Results 111 to 120 of about 6,753,476 (214)

Diagnostic exome sequencing in 266 Dutch patients with visual impairment [PDF]

, 2017
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis.
Boon, C.J.F. (Camiel), Born, L.I. (Ingeborgh) van den, Breuning, M.H. (Martijn), Castelein, S. (Steven), Cremers, F.P.M. (Frans), Haer-Wigman, L. (Lonneke), Hagen, J.M. (Johanna) van, Hehir-Kwa, J. (Jayne), Hoefsloot, E.H. (Lies), Hoyng, C.B. (Carel), Kievit, A.J.A. (Anneke J.A.), Klaver, C.C.W. (Caroline), Kroes, H.Y. (Hester), Lelieveld, S.H. (Stefan H.), Lugtenberg, D. (Dorien), Nelen, M.R. (Marcel), Pfundt, R. (Rolph), Plomp, A. (Astrid), Pott, J.W.R., Sallevelt, S.C.E.H. (Suzanne), Scheffer, H. (Hans), Verheij, J.B. (Joke), Verhoeven, V.J.M. (Virginie), Yntema, H.G., Zelst-Stams, W.A. van   +24 more
core   +1 more source

Familial Alström syndrome: a rare cause of bilateral progressive hearing loss

Brazilian Journal of Otorhinolaryngology, 2014
Introdução: A Síndrome de Alstrom é uma doença muito rara, causada pela mutação no gene Obesidade infantil; ALMS1, que apresenta uma degeneração progressiva das funções sensoriais, resultando em de-Diabetes mellitus tipo 2; ficiências visuais e ...
Fayez Bahmad Jr., Carolina Sousa Alves Costa, Marina Santos Teixeira, Jairo de Barros Filho, Lucas Moura Viana, Jan Marshall   +5 more
doaj   +1 more source

Development of refractive errors - what can we learn from inherited retinal dystrophies? [PDF]

, 2017
PURPOSE: It is unknown which retinal cells are involved in the retina-to-sclera signaling cascade causing myopia. As inherited retinal dystrophies (IRD) are characterized by dysfunction of a single retinal cell type and have a high risk of refractive ...
Born, L.I. (Ingeborgh) van den, Buitendijk, G.H.S. (Gabrielle), Hendriks, M. (Michelle), Hofman, A. (Albert), Kamermans, M. (Maarten), Klaver, C.C.W. (Caroline), Meester-Smoor, M.A. (Magda), Polling, J.R. (Jan Roelof), Verhoeven, V.J.M. (Virginie)   +8 more
core   +1 more source

Additional file 1: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of the results of the WGS statistics in the family. (PDF 12Â kb)
Yang, Lin, Zixiu Li, Mei, Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
openaire   +1 more source

Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy

Journal of Cardiovascular Development and Disease, 2017
Dilated cardiomyopathy (DCM) is a heritable, genetically heterogeneous disorder characterized by progressive heart failure. DCM typically remains clinically silent until adulthood, yet symptomatic disease can develop in childhood.
Pamela A. Long, Jared M. Evans, Timothy M. Olson   +2 more
doaj   +1 more source

Genetics of Growth Disorders-Which Patients Require Genetic Testing? [PDF]

, 2019
The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in
Argente, J, Lehwalder, D, Pfäffle, R, Tatton-Brown, K   +3 more
core   +1 more source

Additional file 3: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of InDels identification in the family. (DOCX 16Â kb)
Yang, Lin, Zixiu Li, Mei, Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
openaire   +1 more source

Additional file 5: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of InDels identification after polymorphism in the dbSNP and 1000 Genome Project were filtered. (DOCX 15Â kb)
Yang, Lin, Zixiu Li, Mei, Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
openaire   +1 more source

Additional file 2: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of SNV identification in the family. (DOCX 16Â kb)
Yang, Lin, Zixiu Li, Mei, Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
openaire   +1 more source

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source