PMC Articles for MedGen (Select 1673448) - PMC

Select item 103934171.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian

Brain. 2023 Aug; 146(8): 3273–3288. Published online 2023 Feb 9. doi: 10.1093/brain/awad039

PMCID:: PMC10393417

Abstract Article PDF–34M

Select item 103649282.

Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population

Rai‐Hseng Hsu, Chen‐Hao Lee, Yin‐Hsiu Chien, Shuan‐Pei Lin, Miao‐Zi Hung, Nai‐Chi Chen, Yi‐Lin Lin, Wuh‐Liang Hwu, Ni‐Chung Lee

Mol Genet Genomic Med. 2023 Jun; 11(6): e2160. Published online 2023 Feb 27. doi: 10.1002/mgg3.2160

PMCID:: PMC10364928

Abstract Article PDF–462K

Select item 84507643.

Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant

Ahmed K. Saad, Dana Marafi, Tadahiro Mitani, Haowei Du, Karima Rafat, Jawid M. Fatih, Shalini N. Jhangiani, Zeynep Coban-Akdemir, Baylor-Hopkins Center for Mendelian Genomics, Richard A. Gibbs, Davut Pehlivan, Jill V. Hunter, Jennifer E. Posey, Maha S. Zaki, James R. Lupski

Am J Med Genet A. Author manuscript; available in PMC 2021 Sep 20.

Published in final edited form as: Am J Med Genet A. 2021 Apr; 185(4): 1288–1293. Published online 2021 Feb 5. doi: 10.1002/ajmg.a.62100

PMCID:: PMC8450764

Abstract Article PDF–506K

Select item 61487584.

Mapping of a Gene for Alopecia with Mental Retardation Syndrome (APMR3) on Chromosome 18q11.2-q12.2

A. Wali, G. Ali, P. John, K. Lee, M. S. Chishti, S. M. Leal, W. Ahmad

Ann Hum Genet. Author manuscript; available in PMC 2018 Sep 21.

Published in final edited form as: Ann Hum Genet. 2007 Sep; 71(Pt 5): 570–577. Published online 2007 Apr 19. doi: 10.1111/j.1469-1809.2007.00362.x

PMCID:: PMC6148758

Abstract Article PDF–429K

Select item 60679255.

Hypopigmentation in the Prader-Willi Syndrome Correlates With P Gene Deletion But Not With Haplotype of the Hemizygous P Allele

Richard A. Spritz, Tu Bailin, Robert D. Nicholls, Seung-Taek Lee, Sang-Kyu Park, Maria J. Mascari, Merlin G. Butler

Am J Med Genet. Author manuscript; available in PMC 2018 Jul 31.

Published in final edited form as: Am J Med Genet. 1997 Jul 11; 71(1): 57–62. doi: 10.1002/(sici)1096-8628(19970711)71:1<57::aid-ajmg11>3.0.co;2-u

PMCID:: PMC6067925

Abstract Article PDF–394K

Select item 40764346.

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

Jens Schuster, Tahir Naeem Khan, Muhammad Tariq, Pakeeza Arzoo Shaiq, Katrin Mäbert, Shahid Mahmood Baig, Joakim Klar

BMC Med Genet. 2014; 15: 71. Published online 2014 Jun 24. doi: 10.1186/1471-2350-15-71

PMCID:: PMC4076434

Abstract Article PDF–1.1M

Select item 38654137.

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot-Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Diane Doummar, Nathalie Dorison, Marion Leboyer, Jean-Pierre Siffroi, David Cohen, Alexis Brice, Delphine Héron, Christel Depienne

Eur J Hum Genet. 2014 Jan; 22(1): 71–78. Published online 2013 May 1. doi: 10.1038/ejhg.2013.88

PMCID:: PMC3865413

Abstract Article PDF–2.2M

Select item 10412368.

Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity

Calbert I Phillips, Anthony M Levy, Marjorie Newton, N Leslie Stokoe

Br J Ophthalmol. 1987 Aug; 71(8): 578–584. doi: 10.1136/bjo.71.8.578

PMCID:: PMC1041236

Summary Page Browse PDF–896K

Select item 3785489.

Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12

Nadia Ehtesham, Rita M. Cantor, Lily M. King, Kent Reinker, Berkley R. Powell, Alan Shanske, Sheila Unger, David L. Rimoin, Daniel H. Cohn

Am J Hum Genet. 2002 Oct; 71(4): 947–951. Published online 2002 Aug 2. doi: 10.1086/342669

PMCID:: PMC378548

Abstract Article PDF–107K

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