PMC Articles for MedGen (Select 1618560) - PMC

Select item 109303011.

陈柏谕, 陈施梦, 熊娟, 尹飞

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Apr 28; 46(4): 432–437. Chinese. doi: 10.11817/j.issn.1672-7347.2021.190756

PMCID:: PMC10930301

Select item 105014842.

Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape

Dezső David, João P. Freixo, Joana Fino, Inês Carvalho, Mariana Marques, Manuela Cardoso, Raul E. Piña-Aguilar, Cynthia C. Morton

Hum Genet. Author manuscript; available in PMC 2023 Sep 14.

Published in final edited form as: Hum Genet. 2020 Apr; 139(4): 531–543. Published online 2020 Feb 6. doi: 10.1007/s00439-020-02121-x

PMCID:: PMC10501484

Abstract Article PDF–1.2M

Select item 86856243.

Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region

Xin (Cynthia) Ye, Nicole M Roslin, Andrew D Paterson, Christopher J Lyons, Victor Pegado, Phillip Richmond, Casper Shyr, Oriol Fornes, XiaoHua Han, Michelle Higginson, Colin J Ross, Deborah Giaschi, Cheryl Gregory-Evans, Millan S Patel, Wyeth W Wasserman

J Med Genet. 2022 Jan; 59(1): 46–55. Published online 2020 Nov 30. doi: 10.1136/jmedgenet-2020-107226

PMCID:: PMC8685624

Abstract Article PDF–3.4M

Select item 86312504.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret H. Harr, Nina Gold, Dong Li, Hans T. Bjornsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline R. Harris, Catherine Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Jr, Pedro A. Sanchez-Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul-Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie D. Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca Miller, Beverly Nelson, Malgorzata J. Nowaczyk, Zuhair Rahbeeni, Shay Ben-Shachar, Joseph T. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary-Alice Abbott, Dawn C. Allain, Louise Amlie-Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon-Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores-Daboub, Holly Dubbs, Carolyn A. Felix, Chin-To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui-Yan Kwok, Rebekah K. Jobling, Amy E. Knight Johnson, Jessica Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth McCormick, D. Ross McLeod, Frank D. Mentch, Kelly Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina N. Powell-Hamilton, Zoe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois Starr, Joan Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk, Hakon Hakonarson, Elaine H. Zackai, Fabiola Quintero-Rivera

Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Am J Med Genet A. 2021 Jun; 185(6): 1649–1665. Published online 2021 Mar 30. doi: 10.1002/ajmg.a.62124

Correction in:: Am J Med Genet A. 2021 Nov 11

PMCID:: PMC8631250

Abstract Article PDF–2.2M

Select item 58594845.

Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel, E. Robert Wassman

BMC Med Genet. 2018; 19: 46. Published online 2018 Mar 20. doi: 10.1186/s12881-018-0555-3

PMCID:: PMC5859484

Abstract Article PDF–432K

Select item 48680236.

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

Valerie Maduro, Barbara N. Pusey, Praveen F. Cherukuri, Paul Atkins, Christèle du Souich, Rosemarie Rupps, Marjolaine Limbos, David R. Adams, Samarth S. Bhatt, Patrice Eydoux, Amanda E. Links, Anna Lehman, May C. Malicdan, Christopher E. Mason, Marie Morimoto, James C. Mullikin, Andrew Sear, Clara Van Karnebeek, Pawel Stankiewicz, William A. Gahl, Camilo Toro, Cornelius F. Boerkoel

Orphanet J Rare Dis. 2016; 11: 62. Published online 2016 May 14. doi: 10.1186/s13023-016-0439-6

PMCID:: PMC4868023

Abstract Article PDF–1.4M

Select item 39383987.

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Gabriela E Jones, Pia Ostergaard, Anthony T Moore, Fiona C Connell, Denise Williams, Oliver Quarrell, Angela F Brady, Isabel Spier, Filiz Hazan, Oana Moldovan, Dagmar Wieczorek, Barbara Mikat, Florence Petit, Christine Coubes, Robert A Saul, Glen Brice, Kristiana Gordon, Steve Jeffery, Peter S Mortimer, Pradeep C Vasudevan, Sahar Mansour

Eur J Hum Genet. 2014 Jul; 22(7): 881–887. Published online 2013 Nov 27. doi: 10.1038/ejhg.2013.263

PMCID:: PMC3938398

Abstract Article PDF–976K

Select item 33592088.

Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature

Tom B Davidson, Pedro A Sanchez-Lara, Linda M Randolph, Mark D Krieger, Shi-Qi Wu, Ashok Panigrahy, Hiroyuki Shimada, Anat Erdreich-Epstein

BMC Med Genet. 2012; 13: 19. Published online 2012 Mar 22. doi: 10.1186/1471-2350-13-19

PMCID:: PMC3359208

Abstract Article PDF–2.5M

Select item 10511309.

Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2).

M Masuno, K Imaizumi, Y Fukushima, Y Tanaka, T Ishii, M Nakamura, Y Kuroki

J Med Genet. 1997 Nov; 34(11): 952–954. doi: 10.1136/jmg.34.11.952

PMCID:: PMC1051130

Summary Page Browse PDF–786K

Select item 105088810.

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

V des Portes, J M Pinard, D Smadja, J Motte, O Boespflüg-Tanguy, M L Moutard, I Desguerre, P Billuart, A Carrie, T Bienvenu, M C Vinet, L Bachner, C Beldjord, O Dulac, A Kahn, G Ponsot, J Chelly

J Med Genet. 1997 Mar; 34(3): 177–183. doi: 10.1136/jmg.34.3.177

PMCID:: PMC1050888

Summary Page Browse PDF–1.5M

Select item 104992311.

Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

C Eng, V Murday, S Seal, S Mohammed, S V Hodgson, M A Chaudary, I S Fentiman, B A Ponder, R A Eeles

J Med Genet. 1994 Jun; 31(6): 458–461. doi: 10.1136/jmg.31.6.458

PMCID:: PMC1049923

Summary Page Browse PDF–798K

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