American Journal of Medical Genetics, Part A

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Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst
American Journal of Medical Genetics, Part A - Tập 158A Số 8 - Trang 2043-2046 - 2012
Manuela Cerbone, Jun Wang, Silvère M. van der Maarel, Alessandra D’Amico, Antonio D’Agostino, Alfonso Romano, Nicola Brunetti‐Pierri
AbstractThe immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome is an autosomal recessive disease presenting with immunodeficiency secondary to hypo‐ or agamma‐globulinemia, developmental delay, and facial anomalies. Centromeric instability is the cytogenetic hallmark of the disorder which results from targeted chromosomal rearrangements rela...... hiện toàn bộ
A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO‐1 and UBC9
American Journal of Medical Genetics, Part A - Tập 136A Số 1 - Trang 31-37 - 2005
Barbara Kloeckener‐Gruissem, David R. Betts, Andreas Zankl, Wolfgang Berger, Tayfun Güngör
AbstractThe ICF syndrome (immunodeficiency, centromeric instability, facial anomalies) (OMIM#242860) is a rare autosomal, recessively inherited disorder. Another rare condition, ischiadic hypoplasia, renal dysgenesis, immunodeficiency, and polydactyly (IHRDIP, OMIM#243340), displays features that resemble those of the ICF syndrome. Due to the overlapping symptoms i...... hiện toàn bộ
A novel mutation in theDIA1 gene in a patient with methemoglobinemia type II
American Journal of Medical Genetics, Part A - Tập 133A Số 1 - Trang 101-102 - 2005
Mustafa Deniz Yılmaz, �zg�r �og ulu, Ferda Özkınay, Kaan Kavaklı, Dirk Roos
Genotype của thai nhi và mẹ MTHFR C677T, mức tiêu thụ folate của mẹ và nguy cơ dị tật môi miệng không hội chứng Dịch bởi AI
American Journal of Medical Genetics, Part A - Tập 143A Số 3 - Trang 248-257 - 2007
Cécile Chevrier, Claire Perret, Michel Bahuau, Huiping Zhu, Agnès Nelva, Christine Herman, Jill A. Rosenfeld, Elisabeth Robert‐Gnansia, Richard H. Finnell, Sylvaine Cordier
Tóm tắtSự liên quan giữa mức tiêu thụ folate của mẹ và nguy cơ dị tật môi miệng không hội chứng đã được nghiên cứu trong nhiều quần thể với kết quả trái ngược nhau. Gen methylenetetrahydrofolate reductase (MTHFR) đóng vai trò quan trọng trong chuyển hóa folate, và một số đa hình, bao gồm C677T, phổ biến trong cá...... hiện toàn bộ
#Mức tiêu thụ folate #đa hình <i>MTHFR</i> #dị tật môi miệng không hội chứng #kiểu gen <i>TT</i> #nghiên cứu trường hợp-đối chứng #nghiên cứu trường hợp-phụ huynh.
Segmental neurofibromatosis in childhood
American Journal of Medical Genetics, Part A - Tập 121A Số 2 - Trang 132-135 - 2003
Robert Listernick, Anthony J. Mancini, Joel Charrow
AbstractSegmental neurofibromatosis refers to individuals who have manifestations of neurofibromatosis type 1 (NF‐1) limited to one area of the body. It results from a post‐conceptional mutation in the NF‐1 gene leading to somatic mosaicism. Although it is generally considered a rare condition, this report of 39 children with segmental NF...... hiện toàn bộ
Variable expression of neurofibromatosis 1 in monozygotic twins
American Journal of Medical Genetics, Part A - Tập 155 Số 3 - Trang 478-485 - 2011
Margaret B. Rieley, David A. Stevenson, David Viskochil, Brad T. Tinkle, Lisa J. Martin, Elizabeth K. Schorry
AbstractNeurofibromatosis 1 (NF1) is a common autosomal dominant disorder with high penetrance but extreme variability of expression. Monozygotic (MZ) twins with NF1 who have phenotypic discordances are a useful tool in evaluating which traits are influenced by non‐hereditary influences such as second hit somatic events, environmental agents, epigenetic modificatio...... hiện toàn bộ
Intelligence in individuals with a neurofibromatosis type 1 microdeletion
American Journal of Medical Genetics, Part A - Tập 131A Số 3 - Trang 325-326 - 2004
Mie‐Jef Descheemaeker, K. Roelandts, Thomas De Raedt, Hilde Brems, J. P. Fryns, Eric Legius
Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients
American Journal of Medical Genetics, Part A - Tập 132A Số 1 - Trang 49-53 - 2005
Kiarash Khosrotehrani, Sylvie Bastuji‐Garin, Vincent M. Riccardi, Patricia Birch, Jan M. Friedman, P. Wolkenstein
AbstractNeurofibromatosis 1 (NF1) is a common genetic disorder with an autosomal dominant mode of inheritance, an increased morbidity and mortality, and a shorter lifespan. Although the disease is fully penetrant by the age of 8, the variability in symptoms and complications is high, even among members of the same family. The aim of this study was to identify easil...... hiện toàn bộ
Hepatoblastoma in a patient with methylmalonic aciduria
American Journal of Medical Genetics, Part A - Tập 167 Số 3 - Trang 635-638 - 2015
Randall Y. Chan, Leo Mascarenhas, Richard G. Boles, Nanda Kerkar, Yuri Genyk, Rajkumar Venkatramani
Childhood malignant tumors and their treatment are not well described in the natural history of methylmalonic aciduria (MMA). Here we present a case of hepatoblastoma occurring in the native liver of a 19‐month‐old male with MMA. His tumor was unresectable at diagnosis and he received neoadjuvant chemotherapy with cisplatin, 5‐fluorouracil and vincristine. He develo...... hiện toàn bộ
Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States
American Journal of Medical Genetics, Part A - Tập 167 Số 4 - Trang 756-767 - 2015
Gert de Graaf, F. Buckley, Brian G. Skotko
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...... hiện toàn bộ
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