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other provinces and regions in Vietnam and other country.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Address\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Headquarters of Can Tho Journal of Medicine and Pharmacy, located Scientific Research and International Cooperation Office: 179 Nguyen Van Cu Street, An Khanh Ward, Ninh Kieu District, Can Tho City, Vietnam.\u003C\u002Fspan>\u003C\u002Fp>","\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Ngày 16\u002F7\u002F2015, Tạp chí Y Dược học Cần Thơ được cấp chỉ số quốc tế: ISSN 2354-1210.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Từ tháng 4\u002F2016, Tạp chí đã được Hội đồng Giáo sư ngành Y đưa vào danh sách các tạp chí khoa học Y học được tính điểm công trình 0-0,5 điểm cho một bài báo đăng.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Năm 2020 Tạp chí Y Dược học Cần Thơ đã được phê duyệt vào danh mục của các Hội đồng Giáo sư ngành Dược học được tính điểm công trình 0-0,5 điểm cho một bài báo đăng.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tạp chí Y Dược học Cần Thơ ra 12 số\u002Fnăm, 180-200 trang\u002Fsố.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Từ tháng 12\u002F2022 Tạp chí Y Dược học Cần Thơ là thành viên của hệ thống Crossref và từ tháng 01\u002F2023 tạp chí thực hiện bình duyệt online kín 2 chiều nhằm tăng tính minh bạch, tin cậy của các công trình nghiên cứu khoa học và đảm bảo tốt nhất chất lượng khoa học của bài viết.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tôn chỉ, mục đích và phạm vi của tạp chí\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tôn chỉ và mục đích hoạt động của tạp chí: xuất bản nhằm mục đích phổ biến kết quả từ các đề tài nghiên cứu khoa học; giao lưu trao đổi khoa học, chia sẻ kinh nghiệm, học tập, đồng thời cập nhật thông tin khoa học mới trong các lĩnh vực y, sinh, dược học trong và ngoài nước.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Phạm vi của tạp chí: Tạp chí xuất bản được chia thành 3 chuyên mục: (i) Bài báo nghiên cứu khoa học là kết quả công trình nghiên cứu khoa học có giá trị đã được triển khai nghiên cứu, (ii) Bài tổng quan y, sinh, dược học: phục vụ mục tiêu đào tạo liên tục trong lĩnh vực y, sinh, dược học; nhằm hệ thống hóa những kiến thức kinh điển và hiện đại; (iii) Thông tin cập nhật kiến thức mới về y, sinh, dược học trong nước và trên thế giới.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Chính sách truy cập mở\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tạp chí Y Dược học Cần Thơ áp dụng chính sách truy cập mở đối với các bài báo đã xuất bản đến với độc giả, nhằm mở rộng cơ hội tiếp cận các kết quả nghiên cứu chất lượng cao và tăng cường trao đổi kiến thức. Tạp chí đăng tải trực tuyến (miễn phí) toàn văn các bài báo được công bố trên website của Tạp chí (https:\u002F\u002Ftapchi.ctump.edu.vn).\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Đạo đức xuất bản\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tạp chí Y Dược học Cần Thơ cam kết tuân thủ đạo đức xuất bản phù hợp với các hướng dẫn và tiêu chuẩn của the Committee on Publication Ethics (COPE), tuân thủ các nguyên tắc của COPE’s Core Practices, Best Practices Guidelines for Journal Editors và Guidelines on Good Publication Practices.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Bản thảo bài báo chỉ được chấp nhận khi được tác giả chịu trách nhiệm chính cam kết các nội dung sau: Các nội dung của bản thảo chưa được đăng tải toàn bộ hoặc một phần ở các tạp chí khác; Tất cả các tác giả đều có đóng góp một cách đáng kể vào quá trình nghiên cứu hoặc chuẩn bị bản thảo và cùng chịu trách nhiệm về các nội dung của bản thảo; Tuân thủ các biện pháp đảm bảo đạo đức nghiên cứu (ví dụ thỏa thuận đồng ý tham gia nghiên cứu).\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Cam kết bảo mật\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tạp chí cam kết thực hiện và tuân thủ các quy định của luật và các văn bản hướng dẫn liên quan đến bảo mật thông tin cá nhân trên không gian mạng. Các thông tin mà người dùng (tác giả, độc giả, biên tập viên, người phản biện) nhập vào các biểu mẫu trên Hệ thống Quản lý xuất bản trực tuyến của tạp chí chỉ được sử dụng vào các mục đích đã được tuyên bố rõ ràng và sẽ không được cung cấp cho bất kỳ bên thứ ba nào khác, hay dùng vào bất kỳ mục đích nào khác.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Phí gửi bài\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Lệ phí gửi đăng bài: 1.000.000đ\u002Fbài báo\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Lệ phí gửi đăng nhanh: 1.500.000đ\u002Fbài báo\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Đối với tác giả là cán bộ viên chức thuộc Trường Đại học Y Dược Cần Thơ thì được hỗ trợ 50% lệ phí gửi đăng bài.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Đối với sinh viên thực hiện đề tài nghiên cứu khoa học cấp trường được hỗ trợ 100% lệ phí đăng bài ( Tác giả gửi đính kèm “ Quyết định về việc giao tổ chức thực hiện đề tài nghiên cứu khoa học cấp Trường của sinh viên”).\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Hình thức nộp lệ phí:\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">1. Tiền mặt:\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Nộp trực tiếp tại Phòng Tài chính - Kế toán, Trường Đại học Y Dược Cần Thơ, số 179 Nguyễn Văn Cừ, P. An Khánh, Q. Ninh Kiều, thành phố Cần Thơ.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">2. Chuyển khoản:\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tên Tài khoản: Trường ĐHYD Cần Thơ, Số TK: 0111000115668, tại ngân hàng Vietcombank chi nhánh Cần Thơ.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Thời gian: Áp dụng từ ngày 01\u002F02\u002F2023.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">* Phí gửi bài không được hoàn trả khi bài viết bị từ chối hoặc tác giả xin rút bài viết.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Quy trình phản biện bài báo\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tạp chí Y Dược học Cần Thơ thực hiện quy trình phản biện kín hai chiều nghiêm ngặt. Danh tính của những người phản biện không được tiết lộ cho các tác giả và ngược lại. Quy trình thẩm định bài báo đăng gồm các bước sau:\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tiếp nhận bản thảo\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Tác giả liên hệ gửi bản thảo đến Tạp chí qua hệ thống trực tuyến tại website: https:\u002F\u002Ftapchi.ctump.edu.vn. Hướng dẫn về cách đăng ký, gửi bài và chuẩn bị bản thảo được cung cấp trên website của Tạp chí.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Sàng lọc sơ bộ\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Sau khi Tòa soạn nhận được bài báo của tác giả, Ban Thư ký sẽ tiến hành kiểm tra sơ bộ bài báo (các yêu cầu về nội dung và hình thức). Những bài báo không đúng quy cách hoặc có nội dung không phù hợp hoặc vi phạm bản quyền sẽ bị từ chối (Ban Thư ký thông báo phản hồi đến tác giả trong vòng 1 tuần). Những bài báo đủ điều kiện, được Ban Thư ký tòa soạn chuyển đến Ban Biên tập có cùng chuyên môn với nội dung bài báo để đề xuất người phản biện. Thời gian kể từ khi Ban Biên tập nhận bài báo đến khi đề xuất người phản biện bài báo chậm nhất là 5 ngày.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Vòng phản biện\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">1. Ban Thư ký gửi bài và yêu cầu phản biện đến 02 phản biện độc lập.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">2. Các phản biện gởi nhận xét cho Ban Thư ký. Thời gian từ khi gửi bài cho phản biện đến khi nhận ý kiến của phản biện tối đa là 20 ngày.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Xử ký kết quả phản biện\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">1. Nếu ý kiến đồng ý cho đăng và không cần chỉnh sửa, Ban Thư ký tiếp tục đăng bài theo qui trình.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">2. Nếu ý kiến đồng ý đăng và cần chỉnh sửa, Ban Thư ký sẽ thông tin đến tác giả chỉnh sửa theo yêu cầu của người phản biện. Thời gian chỉnh sửa và gửi lại kéo dài không quá 2 tuần, từ khi tác giả bài báo nhận được thông tin (Quá trình này có thể lặp lại tối đa 2 lần\u002F1 bài báo). Khi có sự thống nhất, đồng ý của người phản biện; bài báo được tiếp tục đăng theo qui trình.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">3. Những bài báo có chất lượng không đạt yêu cầu, cả 2 phản biện không đồng ý cho đăng sẽ bị Tòa soạn từ chối đăng.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">Xuất bản\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">1. Ban Thư ký tổng hợp các bản thảo đã được tác giả hoàn thiện sau thẩm định trình Ban Biên tập xem xét, Tổng Biên tập phê duyệt, quyết định bài đăng theo các tiêu chí: sự phù hợp nội dung với tôn chỉ và mục đích, thể loại bài viết (ưu tiên các bài có bài có nghiên cứu chuyên sâu, hàm lượng khoa học cao), đóng góp mới bài báo, bài báo được ưu tiên đăng trong số gần nhất của Tạp chí theo thứ tự: tính thời sự, chất lượng bài báo và thời gian gửi bài.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">2. Ban Biên tập và Ban Thư ký biên tập bản thảo, chế bản, đọc rà soát lỗi. Thời gian hoàn thành từ 10-15 ngày.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">3. Ban Thư ký có trách nhiệm thông báo cho tác giả bài báo (bằng e-mail) về tình hình phê duyệt bài báo, thời gian, số kỳ, tập xuất bản bài báo theo qui định.\u003C\u002Fspan>\u003C\u002Fp>\u003Cp>\u003Cbr>\u003C\u002Fp>\u003Cp>\u003Cspan style=\"color: rgb(0, 0, 0);\">4. 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At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade on the genetic causes and biochemical processes leading to OI, this review focuses on the clinical classification of OI and elaborates on the newly proposed OI classification from 2010, which returned to a descriptive and numerical grouping of five OI syndromic groups. The new OI nomenclature and the pre‐and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI. This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to evaluate the effect of therapy. A careful clinical description in combination with knowledge of the specific molecular genetic cause is the starting point for development and assessment of therapy in patients with heritable disorders including OI. © 2014 The Authors. \u003Cjats:italic>American Journal of Medical Genetics\u003C\u002Fjats:italic> Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution–NonCommercial–NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.\u003C\u002Fjats:p>\u003C\u002Fjats:sec>",{"EN":773},"Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment",{"VOID":775},"24715559",{"VOID":777},"10.1002\u002Fajmg.a.36545","PUBLICATION","Auto Verify",[102],"https:\u002F\u002Fonlinelibrary.wiley.com\u002Fdoi\u002F10.1002\u002Fajmg.a.36545",[783,802],{"id":784,"sortIndex":36,"researcher":26,"roles":785,"affiliations":786,"properties":797},"a053b577-5c15-4859-a953-fcaa6cb4fa1c",[],[787],{"id":788,"sortIndex":36,"affiliation":789,"properties":26},"01ef079c-b97d-46a5-8619-c5c98174fc14",{"id":790,"createTime":791,"updateTime":791,"relativeEntities":792,"slug":793,"properties":794,"entityType":98,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36},"d6934523-62d8-48bb-b79a-ff739cb07914","2024-09-01T06:54:03.423+00:00",[],"Department-of-Clinical-Genetics-Center-for-Connective-Tissue-Disorders-VU-University-Medical-Center-Amsterdam-The-Netherlands",{"title":795},{"EN":796},"Department of Clinical Genetics Center for Connective Tissue Disorders VU University Medical Center Amsterdam The Netherlands",{"openalex":798,"title":800},{"VOID":799},"A5105979602",{"EN":801},"Fleur S. van Dijk",{"id":803,"sortIndex":115,"researcher":26,"roles":804,"affiliations":805,"properties":816},"12090c4c-42ce-449e-9956-ac9be0e3c72e",[],[806],{"id":807,"sortIndex":36,"affiliation":808,"properties":26},"809e642f-a580-44a4-b5a7-c40eb16b66ec",{"id":809,"createTime":810,"updateTime":810,"relativeEntities":811,"slug":812,"properties":813,"entityType":98,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36},"3c223b53-870d-414d-869d-2bdb53eb662f","2024-09-01T06:54:03.479+00:00",[],"Discipline-of-Genetic-Medicine-The-Children-s-Hospital-at-Westmead-Clinical-School-Sydney-Medical-School-University-of-Sydney-Head-Connective-Tissue-Dysplasia-Management-Service-The-Children-s-Hospital-at-Westmead-Sydney-Australia",{"title":814},{"EN":815},"Discipline of Genetic Medicine The Children's Hospital at Westmead Clinical School Sydney Medical School University of Sydney Head Connective Tissue Dysplasia Management Service The Children's Hospital at Westmead Sydney Australia",{"openalex":817,"orcid":819,"title":821},{"VOID":818},"A5005918886",{"VOID":820},"https:\u002F\u002Forcid.org\u002F0000-0002-5638-2998",{"EN":822},"David Sillence","ARTICLE",{"url":26,"publisher":825,"properties":850},{"id":659,"createTime":660,"updateTime":661,"relativeEntities":826,"slug":663,"properties":827,"entityType":24,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36,"subjectFields":833,"manageAffiliations":834,"indexDatabases":835,"url":752,"thumbnailPath":26,"statistic":26,"gsStatistic":26,"type":26,"analyzePriority":26},[],{"country":828,"issn":829,"introduce":830,"eissn":831,"title":832},{"VOID":666},{"VOID":668},{"EN":670},{"VOID":672},{"EN":674},[],[],[836,843],{"id":734,"indexDatabase":837,"url":749,"indexYears":26,"academicFieldIds":842,"indexDatabaseRanking":26},{"id":736,"createTime":737,"updateTime":738,"relativeEntities":838,"label":839,"description":840,"key":745,"publicationTags":841,"standard":26},[],{"EN":741,"VI":741},{"VI":743,"EN":744},[747,748],[751],{"id":714,"indexDatabase":844,"url":727,"indexYears":728,"academicFieldIds":849,"indexDatabaseRanking":732},{"id":716,"createTime":717,"updateTime":718,"relativeEntities":845,"label":846,"description":847,"key":724,"publicationTags":848,"standard":26},[],{"EN":721,"VI":721},{"EN":721,"VI":723},[726],[730,731],{"volume":851,"pages":853,"issue":855},{"VOID":852},"164",{"VOID":854},"1470-1481",{"VOID":856},"6",618,{"total":857,"publishYear":26,"statisticByYear":859},{"2014":135,"2015":48,"2016":259,"2017":402,"2018":44,"2019":534,"2020":346,"2021":534,"2022":569,"2023":860,"2024":398},61,"2014-06-01",2014,[864,867,870,873,876,879,882,886,889,892,895,898,901,904,907,910,913,916,919,922,925,928,931,934,937,940,943,946,949,952,956,959,962,965,968,971,974,977,980,983,986,989,992,995,998,1001,1004,1007,1010,1013,1016,1019,1022,1025,1028,1031,1034,1037,1040,1043,1046,1049,1052,1055,1059,1062,1066,1069,1072],{"id":26,"text":865,"url":26,"identifiers":866},"10.1159\u002F000351374",{"doi":865},{"id":26,"text":868,"url":26,"identifiers":869},"10.1136\u002Fadc.2006.096552",{"doi":868},{"id":26,"text":871,"url":26,"identifiers":872},"Bailleul‐Forestier I, 2008, The genetic basis of inherited anomalies of the teeth. 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We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease‐onset (74 patients; 22.8% of all patients where data were available), or a post‐natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub‐acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non‐syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow‐up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi‐Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon‐stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon‐stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi–Goutières syndrome‐related genes. 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Active Hedgehog ligand is double lipid modified with a C‐terminal cholesterol moiety and an N‐terminal palmitate. Transport active Hedgehog from the signaling cell to the responding cell occurs through three mechanisms: 1). formation of multimeric Hedgehog which makes it soluble; 2). function of Dispatched in releasing the lipid‐anchored protein from the signaling cell; and 3). movement across the plasma membrane of the responding cell by Tout‐velu‐dependent synthesis of heparan sulfate proteoglycan. In the responding cell, active Hedgehog binds to its receptor Patched, a 12‐pass transmembrane protein, which frees Smoothened, an adjacent 7‐pass transmembrane protein, for downstream signaling. Patched and Smoothened may shuttle oppositely between the plasma membrane and endocytic vesicles in response to active Hedgehog ligand. In downstream signaling, Cubitus interruptus (Gli proteins in vertebrates), Costal 2, Fused, and Suppressor of Fused form a tetrameric complex. Cubitus interruptus is a bifunctional transcription regulator. In the absence of active Hedgehog ligand, a truncated transcriptional repressor is generated that binds target genes and blocks their transcription. In the presence of active Hedgehog ligand, a full length transcriptional activator binds target genes and upregulates their transcription. Target genes include \u003Cjats:italic>Wingless\u003C\u002Fjats:italic> (\u003Cjats:italic>Wnt\u003C\u002Fjats:italic> gene family in vertebrates), \u003Cjats:italic>Decapentaplegic\u003C\u002Fjats:italic> (Bone Morphogenetic Proteins in vertebrates), and \u003Cjats:italic>Patched\u003C\u002Fjats:italic>. The upregulation of Patched expression, resulting in Patched protein at the cell membrane, sequesters Hedgehog and limits its spread beyond the cells in which it is produced. Thus, a balance is created by the antagonism of Hedgehog and Patched, whose relative concentrations alternate with respect to each other. Many more factors that are essential for the hedgehog signaling network are also discussed: Megalin, Rab23, Hip, GAS1, PKA, GSK3, CK1, Slimb, SAP18, and CBP. © 2003 Wiley‐Liss, Inc.\u003C\u002Fjats:p>",{"EN":4095},"The hedgehog signaling network",{"VOID":4097},"14556242",{"VOID":4099},"10.1002\u002Fajmg.a.20495",[102],"https:\u002F\u002Fonlinelibrary.wiley.com\u002Fdoi\u002F10.1002\u002Fajmg.a.20495",[4103],{"id":4104,"sortIndex":36,"researcher":26,"roles":4105,"affiliations":4106,"properties":4117},"403f247e-de7a-490e-a760-f53a6c790798",[],[4107],{"id":4108,"sortIndex":36,"affiliation":4109,"properties":26},"a529401b-5fe0-4651-803f-e1545790be16",{"id":4110,"createTime":4111,"updateTime":4111,"relativeEntities":4112,"slug":4113,"properties":4114,"entityType":98,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36},"32c3d5b5-73eb-4be3-b0c8-445efd71070c","2024-09-23T14:11:46.539+00:00",[],"Departments-of-Oral-Maxillofacial-Sciences-Pediatrics-Community-Health-Epidemiology-Health-Sciences-Administration-and-Sociology-Social-Anthropology-Dalhousie-University-Halifax-Nova-Scotia-Canada",{"title":4115},{"EN":4116},"Departments of Oral & Maxillofacial Sciences, Pediatrics, Community Health & Epidemiology, Health Sciences Administration, and Sociology & Social Anthropology, Dalhousie University, Halifax, Nova Scotia, Canada",{"openalex":4118,"title":4120},{"VOID":4119},"A5103514323",{"EN":4121},"M. 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PP, 1999, Differential requirements of the Fused kinase for Hedgehog signaling in the Drosophila embryo, Development, 126, 4039, 10.1242\u002Fdev.126.18.4039",{"doi":4816},"10.1242\u002Fdev.126.18.4039",{"id":26,"text":4818,"url":26,"identifiers":4819},"10.1038\u002F382547a0",{"doi":4818},{"id":26,"text":4821,"url":26,"identifiers":4822},"10.1016\u002FS0002-9297(07)62934-6",{"doi":4821},{"id":26,"text":4824,"url":26,"identifiers":4825},"10.1038\u002Fsj.onc.1201340",{"doi":4824},{"id":26,"text":4827,"url":26,"identifiers":4828},"Vorechovsky I, 1997, Trichoepitheliomas contain somatic mutations in the overexpressed PTC gene: support for a gatekeeper mechanism in skin tumorigenesis, Cancer Res, 57, 4677",{},{"id":26,"text":4830,"url":26,"identifiers":4831},"10.1126\u002Fscience.273.5275.613",{"doi":4830},{"id":26,"text":4833,"url":26,"identifiers":4834},"10.1038\u002F9718",{"doi":4833},{"id":26,"text":4836,"url":26,"identifiers":4837},"Wang QT, 1999, The subcellular localization and 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21",{},{"id":26,"text":4852,"url":26,"identifiers":4853},"10.1038\u002Fsj.onc.1201644",{"doi":4852},{"id":26,"text":4855,"url":26,"identifiers":4856},"10.1093\u002Fhmg\u002F6.11.1979",{"doi":4855},{"id":26,"text":4858,"url":26,"identifiers":4859},"10.1073\u002Fpnas.93.16.8460",{"doi":4858},{"id":26,"text":4861,"url":26,"identifiers":4862},"10.1086\u002F302760",{"doi":4861},{"id":26,"text":4864,"url":26,"identifiers":4865},"10.1016\u002FS0092-8674(00)80329-3",{"doi":4864},{"id":26,"text":4867,"url":26,"identifiers":4868},"Wolter M, 1997, Mutations in the human homologue of Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system, Cancer Res, 57, 2581",{},{"id":26,"text":4870,"url":26,"identifiers":4871},"Xie J, 1997, Mutations of the Patched gene in several types of sporadic extracutaneous tumors, Cancer Res, 57, 2369",{},{"id":26,"text":4873,"url":26,"identifiers":4874},"10.1038\u002F34201",{"doi":4873},{"id":26,"text":4876,"url":26,"identifiers":4877},"10.1093\u002Fhmg\u002F9.9.1385",{"doi":4876},{"id":26,"text":4879,"url":26,"identifiers":4880},"10.1016\u002FS0168-9525(96)20014-9",{"doi":4879},{"id":26,"text":4882,"url":26,"identifiers":4883},"10.1038\u002F35079648",{"doi":4882},{"id":4885,"createTime":4886,"updateTime":4886,"relativeEntities":4887,"slug":4888,"properties":4889,"entityType":778,"verifyStatus":25,"verifyTime":4886,"verifyNote":779,"syncStatus":28,"languages":4903,"translateLanguages":26,"viewCount":36,"primaryUrl":4904,"fullTextUrl":26,"authors":4905,"publicationType":823,"publisherRelationship":4980,"citationCount":5012,"citationInfo":5013,"publishDate":5015,"publishYear":3956,"citationAnalyzeStatus":28,"lastCitationAnalyze":26,"indexDatabases":26,"openAccess":26,"references":5016,"isForceReanalyzing":1075},"a6d8ea2c-57dd-4d4c-a3ad-12c6fc58fdab","2024-12-14T13:36:19.956+00:00",[],"Estimates-of-the-live-births-natural-losses-and-elective-terminations-with-Down-syndrome-in-the-United-States",{"mag":4890,"keywords":4892,"openalex":4893,"abstract":4895,"title":4897,"pm":4899,"doi":4901},{"VOID":4891},"2157340167",{},{"VOID":4894},"W2157340167",{"EN":4896},"\u003Cjats:sec>\u003Cjats:label \u002F>\u003Cjats:p>The present and future live birth prevalence of Down syndrome (DS) is of practical importance for planning services and prioritizing research to support people living with the condition. Live birth prevalence is influenced by changes in prenatal screening technologies and policies. To predict the future impact of these changes, a model for estimating the live births of people with DS is required. In this study, we combine diverse and robust datasets with validated estimation techniques to describe the non‐selective and live birth prevalence of DS in the United States from 1900–2010. Additionally, for the period 1974–2010, we estimate the impact of DS‐related elective pregnancy terminations (following a prenatal diagnosis of DS) on the live births with DS. The live birth prevalence for DS in the most recent years (2006–2010) was estimated at 12.6 per 10,000 (95% CI 12.4–12.8), with around 5,300 births annually. During this period, an estimated 3,100 DS‐related elective pregnancy terminations were performed in the U.S. annually. As of 2007, the estimated rates at which live births with DS were reduced as a consequence of DS‐related elective pregnancy terminations were 30% (95% CI: 27.3–31.9) for the U.S. as a whole. Our results and our model provide data on the impact of elective pregnancy terminations on live births with DS and may provide a baseline from which future trends for live births with DS can be estimated. © 2015 Wiley Periodicals, Inc.\u003C\u002Fjats:p>\u003C\u002Fjats:sec>",{"EN":4898},"Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States",{"VOID":4900},"25822844",{"VOID":4902},"10.1002\u002Fajmg.a.37001",[102],"https:\u002F\u002Fonlinelibrary.wiley.com\u002Fdoi\u002F10.1002\u002Fajmg.a.37001",[4906,4937,4958],{"id":4907,"sortIndex":115,"researcher":26,"roles":4908,"affiliations":4909,"properties":4930},"11752acf-87e8-4ad9-a69a-6f834c082b0a",[],[4910,4920],{"id":4911,"sortIndex":115,"affiliation":4912,"properties":26},"b06a84d3-df74-4975-a754-f3389baba8fa",{"id":4913,"createTime":4914,"updateTime":4914,"relativeEntities":4915,"slug":4916,"properties":4917,"entityType":98,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36},"df2efb00-fcca-4214-a015-37d1da9bcfab","2024-12-14T13:36:20.116+00:00",[],"Down-Syndrome-Education-USA-Newport-Beach-California",{"title":4918},{"EN":4919},"Down Syndrome Education USA, Newport Beach, California",{"id":4921,"sortIndex":36,"affiliation":4922,"properties":26},"49596967-3aab-4ab8-a4de-7aa1197ee2da",{"id":4923,"createTime":4924,"updateTime":4924,"relativeEntities":4925,"slug":4926,"properties":4927,"entityType":98,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36},"f79d140d-c247-4284-a50e-60cb27d6efdf","2024-12-14T13:36:20.105+00:00",[],"Down-Syndrome-Education-International-Kirkby-Lonsdale-Cumbria-UK",{"title":4928},{"EN":4929},"Down Syndrome Education International, Kirkby Lonsdale, Cumbria, UK",{"openalex":4931,"orcid":4933,"title":4935},{"VOID":4932},"A5004094194",{"VOID":4934},"https:\u002F\u002Forcid.org\u002F0000-0002-9708-2705",{"EN":4936},"F. 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Statistical abstract of the United States: 2003. Available athttp:\u002F\u002Fwww.census.gov\u002Fprod\u002Fwww\u002Fstatistical_abstract.html. Accessed on September 28 2013.",{},{"id":26,"text":5157,"url":26,"identifiers":5158},"10.2105\u002FAJPH.86.5.731",{"doi":5157},{"id":26,"text":5160,"url":26,"identifiers":5161},"Wetzel JR, 1990, American families: 75 years of change, Mon Labor Rev, 113, 4",{},{"id":26,"text":5163,"url":26,"identifiers":5164},"10.1002\u002Fpd.3993",{"doi":5163},{"id":5166,"createTime":5167,"updateTime":5167,"relativeEntities":5168,"slug":5169,"properties":5170,"entityType":778,"verifyStatus":25,"verifyTime":5184,"verifyNote":779,"syncStatus":28,"languages":5185,"translateLanguages":26,"viewCount":36,"primaryUrl":5186,"fullTextUrl":26,"authors":5187,"publicationType":823,"publisherRelationship":5321,"citationCount":5353,"citationInfo":5354,"publishDate":5356,"publishYear":5357,"citationAnalyzeStatus":28,"lastCitationAnalyze":26,"indexDatabases":26,"openAccess":26,"references":5358,"isForceReanalyzing":1075},"5cc1ee9f-635d-40d2-a857-4337e0baae85","2024-09-11T11:08:07.236+00:00",[],"Reviewing-the-evidence-for-mycophenolate-mofetil-as-a-new-teratogen-Case-report-and-review-of-the-literature",{"mag":5171,"keywords":5173,"openalex":5174,"abstract":5176,"title":5178,"pm":5180,"doi":5182},{"VOID":5172},"2093454092",{},{"VOID":5175},"W2093454092",{"EN":5177},"\u003Cjats:title>Abstract\u003C\u002Fjats:title>\u003Cjats:p>Mycophenolate mofetil (MMF) (CellCept®) is an immunosuppressant drug that is teratogenic in rats and rabbits. Reports of malformations in 13 offspring of women exposed to MMF in pregnancy raise concern that MMF is also a human teratogen. We report an additional child with malformations following prenatal exposure to MMF and review the other 13 reports. We identified a Cambodian male born at 31 weeks' gestation to a mother who had been treated for lupus nephritis with MMF from before conception to 12 weeks' gestational age. He had bilateral moderate‐to‐severe microtia, external auditory canal atresia, bilateral conductive hearing loss, mild microcephaly, and apparently normal development. Among the 14 MMF‐exposed offspring now reported, the underlying maternal conditions were kidney transplantation (7), lupus nephritis (4), liver transplantation (1), heart transplantation (1), and recurrent erythema multiforme (1). All were exposed in early pregnancy. The most distinctive malformation was moderate‐to‐severe microtia or anotia (12), with external auditory canal atresia in 9. Other common craniofacial malformations and minor anomalies included orofacial clefts (7), hypertelorism (3), coloboma (3), and micrognathia (3). Six had cardiovascular malformations, of which three were either conotruncal or aortic arch defects. MMF dose, reported in 12 patients, was <1 g\u002Fday in 4 and 1 g or more\u002Fday in 8; no correlation between dose and phenotype severity was apparent. While case reports have limited value in identifying human teratogens, the unusual distribution of malformations among the 14 reported exposed offspring identifies a phenotype suggesting that MMF is likely a human teratogen. © 2009 Wiley‐Liss, Inc.\u003C\u002Fjats:p>",{"EN":5179},"Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature",{"VOID":5181},"19441125",{"VOID":5183},"10.1002\u002Fajmg.a.32685","2024-09-11T11:08:07.235+00:00",[102],"https:\u002F\u002Fonlinelibrary.wiley.com\u002Fdoi\u002F10.1002\u002Fajmg.a.32685",[5188,5229,5251,5273,5304],{"id":5189,"sortIndex":114,"researcher":26,"roles":5190,"affiliations":5191,"properties":5224},"b7b1962a-61e5-4ca5-9623-fac777b28634",[],[5192,5203,5213],{"id":5193,"sortIndex":115,"affiliation":5194,"properties":26},"3f2b2b74-6ef0-44a9-82eb-98060c19be50",{"id":5195,"createTime":5196,"updateTime":5197,"relativeEntities":5198,"slug":5199,"properties":5200,"entityType":98,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36},"371bb681-6f4f-4e86-b16d-cb91412bfa57","2023-12-24T03:48:36.900+00:00","2024-09-11T11:08:07.351+00:00",[],"Hasbro-Children-s-Hospital-Providence-Rhode-Island",{"title":5201},{"VI":5202},"Hasbro Children's Hospital, Providence, Rhode Island",{"id":5204,"sortIndex":36,"affiliation":5205,"properties":26},"43bb0aa9-171c-4c5a-a8cf-4daeaa03f0bb",{"id":5206,"createTime":5207,"updateTime":5207,"relativeEntities":5208,"slug":5209,"properties":5210,"entityType":98,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36},"e0b3b117-aa0b-4916-9b94-61222cecb717","2024-09-11T11:08:07.338+00:00",[],"Division-of-Genetics-Rhode-Island-Hospital-Providence-Rhode-Island",{"title":5211},{"EN":5212},"Division of Genetics, Rhode Island Hospital, Providence, Rhode Island",{"id":5214,"sortIndex":114,"affiliation":5215,"properties":26},"a102a3f6-c19e-4bb7-be57-6aa9e0a08bba",{"id":5216,"createTime":5217,"updateTime":5218,"relativeEntities":5219,"slug":5220,"properties":5221,"entityType":98,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36},"115548b7-5b49-4dff-a561-23393bea2d3d","2023-12-01T18:17:32.898+00:00","2024-09-11T11:08:07.357+00:00",[],"Warren-Alpert-School-of-Medicine-Brown-University-Providence-Rhode-Island",{"title":5222},{"VI":5223},"Warren Alpert School of Medicine, Brown University, Providence, Rhode Island",{"openalex":5225,"title":5227},{"VOID":5226},"A5084124463",{"EN":5228},"Dianne Abuelo",{"id":5230,"sortIndex":59,"researcher":26,"roles":5231,"affiliations":5232,"properties":5244},"ced00b5e-267b-44d8-8be1-ef6f78dce0de",[],[5233],{"id":5234,"sortIndex":36,"affiliation":5235,"properties":26},"85908f8f-83a3-4695-b400-e1b1087ca104",{"id":5236,"createTime":5237,"updateTime":5238,"relativeEntities":5239,"slug":5240,"properties":5241,"entityType":98,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36},"f3e7e7ef-1479-4b91-8392-2c445c26ad75","2023-12-04T06:45:31.425+00:00","2024-10-10T05:35:37.000+00:00",[],"Slone-Epidemiology-Center-at-Boston-University-Boston-Massachusetts",{"title":5242},{"VI":5243},"Slone Epidemiology Center at Boston University, Boston, Massachusetts",{"openalex":5245,"orcid":5247,"title":5249},{"VOID":5246},"A5042954847",{"VOID":5248},"https:\u002F\u002Forcid.org\u002F0000-0003-0950-6799",{"EN":5250},"Allen A. 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However, so far, prospective data on pregnancy outcome allowing quantitative risk assessment are missing. We report on 57 prospectively ascertained pregnancies after maternal therapy with mycophenolate (mycophenolate mofetil or mycophenolate sodium) identified by European Teratology Information Services (ETIS) through their risk consultation process. The outcome of these prospective pregnancies was as follows: 16 spontaneous abortions, 12 elective terminations of pregnancy (ETOP) (including two late terminations for multiple malformations consistent with mycophenolate embryopathy), and 29 liveborn infants. The probability of spontaneous abortion was about 45% (95% CI 29 to 66%) estimated using survival analysis technique. Six out of 29 live born infants had major congenital defects: Two with external auditory canal atresia (EACA) (with and without microtia), one with tracheo‐esophageal atresia, one with severe hydronephrosis, one with an atrial septal defect (ASD) and one with a myelomeningocele. Thus, at least four fetuses\u002Finfants of our prospective case series had a clinical phenotype consistent with mycophenolate embryopathy. Our results confirm a high incidence of major malformations (26%) after first trimester exposure to mycophenolate. 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However, information regarding the incidence of MPS in the Asian population is lacking. An epidemiological study of the MPS disorders in Taiwan using multiple ascertainment sources was undertaken, and incidences of different types of MPS during the period of 1984–2004 were estimated. We compared our data with previous reports in different populations. The combined birth incidence for all MPS cases was 2.04 per 100,000 live births. MPS II (Hunter syndrome) had the highest calculated birth incidence of 1.07 per 100,000 live births (2.05 per 100,000 male live births), comprising 52% of all MPS cases diagnosed. The birth incidences of MPS I (Hurler syndrome), III (Sanfilippo syndrome), IV (Morquio syndrome), and VI (Maroteaux‐Lamy syndrome) were 0.11, 0.39, 0.33, and 0.14 per 100,000 live births, respectively, which accounted for 6%, 19%, 16%, and 7% of all MPS, respectively. No cases of MPS III D (Sanfilippo syndrome type D), MPS IV B (Morquio syndrome type B), MPS VII (Sly syndrome) or MPS IX were ascertained during the study period. Overall incidence of MPS in Taiwan was consistent with that reported in Western populations. However, in contrast to the higher incidence of MPS I in most Western populations, this study showed a higher incidence of MPS II in Taiwan. 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It is considered heterogeneous with respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the disease referred to as MPSIIIA, B, C, and D are known), and causative mutations. The perspective of therapeutic options emphasizes the need for better knowledge of MPSIII incidence and natural history. We performed parallel retrospective epidemiological studies of patients diagnosed with MSPIII in France (n = 128), UK (n = 126), and Greece (n = 20) from 1990 to 2006. Incidences ranged from 0.68 per 100,000 live‐births in France to 1.21 per 100,000 live‐births in UK. MPSIIIA, which predominates in France and UK, was absent in Greece, where most patients have MPSIIIB. The study confirmed the large allelic heterogeneity of MPSIIIA and MPSIIIB and detected several yet undescribed mutations. Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients, whatever the disease subtype, expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and\u002For abnormal behavior. In contrast to relatively homogeneous early onset manifestations, disease progression showed significant variation depending on subtype and age at diagnosis. Different severities of disease progressions and different allele distribution between France and UK suggested that mutations are not equally deleterious, although genotype–phenotype correlation could not be established. 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report on the cognitive and behavioral attributes of 61 children with Down syndrome (DS) and autistic‐spectrum disorder (ASD) according to DSM‐IV criteria; to determine the utility of the aberrant behavior checklist (ABC) to characterize these subjects for research purposes; and to test the hypothesis that subjects with DS + ASD could be distinguished from their typical DS peers using the ABC. Cross‐sectional design. Cases with DS + ASD (N = 61), comparison group of DS + stereotypy movement disorder (SMD) (N = 26) and typical DS controls without behavior problems (N = 44) were ascertained and enrolled sequentially upon presentation to a DS clinic at an academic medical center over a 10‐year period from 1991 to 2001. All subjects underwent neurodevelopmental and medical evaluation, and standardized cognitive testing. The parents provided responses to standardized behavioral questionnaires. Cognitive function (IQ) differed markedly across the three groups. The Lethary and Stereotypy subscales of the ABC were highly significant (\u003Cjats:italic>P\u003C\u002Fjats:italic> < 0.001) in distinguishing the three groups from one another. Within the ASD group differences were apparent by DSM‐IV type on the Lethargy subscale, which reached significance, ANOVA (F = 0.002) and\u003Cjats:italic>t\u003C\u002Fjats:italic>‐test (Autism > PDD,\u003Cjats:italic>P\u003C\u002Fjats:italic> = 0.005; PDD < CDD,\u003Cjats:italic>P\u003C\u002Fjats:italic> = 0.002). Using a multivariate regression model, the ABC scales alone explained 62% of variance of ASD outcome; addition of demographic variables explained up to 68% of the variance. There is good correlation between DSM‐IV criteria for autism and subscales scores on the ABC in subjects with DS. This study demonstrates the feasibility of using the ABC to characterize the neurobehavioral phenotype of a cohort of children with trisomy 21 and ASD for ongoing research purposes. © 2005 Wiley‐Liss, Inc.\u003C\u002Fjats:p>",{"EN":6778},"Down syndrome and comorbid autism‐spectrum disorder: Characterization using the aberrant behavior checklist",{"VOID":6780},"15759262",{"VOID":6782},"10.1002\u002Fajmg.a.30622","2024-10-01T01:44:55.671+00:00",[102],"https:\u002F\u002Fonlinelibrary.wiley.com\u002Fdoi\u002F10.1002\u002Fajmg.a.30622",[6787,6830,6852,6867,6906],{"id":6788,"sortIndex":36,"researcher":26,"roles":6789,"affiliations":6790,"properties":6823},"52ef6d4e-a981-4b7f-b571-c06d34259c69",[],[6791,6802,6812],{"id":6792,"sortIndex":114,"affiliation":6793,"properties":26},"61a02804-b953-45b0-86e5-a9ff96545671",{"id":6794,"createTime":6795,"updateTime":6796,"relativeEntities":6797,"slug":6798,"properties":6799,"entityType":98,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36},"4111e78c-bfcd-46a0-ab3b-66918e47b0bf","2023-12-19T13:39:28.150+00:00","2025-02-10T02:39:21.630+00:00",[],"Department-of-Pediatrics-Johns-Hopkins-University-School-of-Medicine-Baltimore-Maryland",{"title":6800},{"VI":6801},"Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland",{"id":6803,"sortIndex":36,"affiliation":6804,"properties":26},"e78674d2-ec06-461f-974c-bb8cd13aff9d",{"id":6805,"createTime":6806,"updateTime":6806,"relativeEntities":6807,"slug":6808,"properties":6809,"entityType":98,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36},"be02b85c-b2ba-4228-b752-59ba05e4655a","2024-10-01T01:44:55.689+00:00",[],"Center-for-Genetic-Disorders-of-Cognition-and-Behavior-Kennedy-Krieger-Institute-Baltimore-Maryland",{"title":6810},{"EN":6811},"Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, Maryland",{"id":6813,"sortIndex":115,"affiliation":6814,"properties":26},"50333729-ca59-4b10-be85-334bdb0ba219",{"id":6815,"createTime":6816,"updateTime":6817,"relativeEntities":6818,"slug":6819,"properties":6820,"entityType":98,"verifyStatus":28,"verifyTime":26,"verifyNote":26,"syncStatus":28,"languages":26,"translateLanguages":26,"viewCount":36},"50c88274-ce70-4977-b2c6-b1d162090052","2024-01-10T19:06:52.955+00:00","2024-10-01T01:44:55.694+00:00",[],"Department-of-Neurology-and-Developmental-Medicine-Kennedy-Krieger-Institute-Baltimore-Maryland",{"title":6821},{"VI":6822},"Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland",{"openalex":6824,"orcid":6826,"title":6828},{"VOID":6825},"A5017982767",{"VOID":6827},"https:\u002F\u002Forcid.org\u002F0000-0003-3009-3730",{"EN":6829},"George T. 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