European Journal of Medical Genetics

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IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association
European Journal of Medical Genetics - Tập 63 - Trang 104073 - 2020
Santiago Montolío-Marzo, Jaume Català-Mora, Álvaro Madrid-Aris, Judith Armstrong, Jesús Díaz-Carcajosa, Elisa Carreras
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity
European Journal of Medical Genetics - Tập 57 - Trang 520-523 - 2014
Carolina Courage, Gunnar Houge, Sabina Gallati, Jack Schjelderup, Claudine Rieubland
Haplotype analysis of α-thalassemia chromosomes reveals heterogeneity and multiple founders in Ashkenazi Jews
European Journal of Medical Genetics - Tập 59 - Trang 555-558 - 2016
Adir Shaulov, Dvora Filon, Deborah Rund
Novel TBX3 mutation data in families with Ulnar–Mammary syndrome indicate a genotype–phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects
European Journal of Medical Genetics - Tập 49 - Trang 151 - 2006
Platonova Natalia, Merlo Giorgio R., Odent Sylvie, Meneghini Vasco, Egeo Aliana
We describe a family affected by Ulnar–Mammary syndrome (UMS) in which typical UMS traits (hypoplasia of the breast and axillary hair, upper limbs and genital defects) are present together with cardiac malformations and pulmonary stenosis. Sequence analysis of TBX3 shows a new heterozygous mutation that causes a frame-shift (Nt.1586-1587-insC) in exon 6, resulting in a truncated ORF. Recently the ...... hiện toàn bộ
#Genotype–phenotype relationship #Limb malformation #Mutation #T-box #TBX3 #Ulnar–Mammary syndrome
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90
European Journal of Medical Genetics - Tập 65 - Trang 104403 - 2022
Dhanya Lakshmi Narayanan, Purvi Majethia, Aroor Shrikiran, Shahyan Siddiqui, Ashwin Dalal, Anju Shukla
Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants
European Journal of Medical Genetics - Tập 61 - Trang 329-334 - 2018
Tatjana Bierhals, Georg Christoph Korenke, Martina Baethmann, Laura López Marín, Martin Staudt, Kerstin Kutsche
A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre–Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc
European Journal of Medical Genetics - Tập 54 - Trang e478-e483 - 2011
Patrizia De Marco, Alessandro Raso, Silvana Beri, Stefania Gimelli, Elisa Merello, Samantha Mascelli, Maurizia Baldi, Ave Maria Baffico, Marco Pavanello, Armando Cama, Valeria Capra, Roberto Giorda, Giorgio Gimelli
Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets
European Journal of Medical Genetics - Tập 63 - Trang 103771 - 2020
Neslihan Duzkale, Nilnur Eyerci, Berna Oksuzoglu, Taner Teker, Olcay Kandemir
Craniofacial bony defect with developmental abnormality of facial bones, dental malalignment and ectopic neural tissue in the internal auditory meati – A new syndrome?
European Journal of Medical Genetics - Tập 57 - Trang 302-305 - 2014
G.C. Colleran, R. Hayes, G. Kearns, P. Kavanagh, E. Moylett, S.A. Lynch
DNA promoter methylation of CCM genes in human cerebral cavernous malformations: Importance of confirming MSP data through sequencing
European Journal of Medical Genetics - Tập 63 - Trang 104090 - 2020
Dino Saban, Joel Larisch, Ann-Christin Nickel, Daniela Pierscianek, Philipp Dammann, Ulrich Sure, Yuan Zhu
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