PMC Articles for MedGen (Select 1785087) - PMC

Select item 104235091.

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha S Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden

J Med Genet. 2023 Aug; 60(8): 791–796. Published online 2022 Dec 29. doi: 10.1136/jmg-2022-108566

PMCID:: PMC10423509

Abstract Article PDF–739K

Select item 103302312.

Jansen-DeVries Syndrome: Expansion of the PPM1D Clinical and Phenotypic Spectrum in 34 Families

Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cross, Kalliope Demetriou, Katy Drazba, Marina Dutra-Clarke, Matthew Edwards, Casie A Genetti, Dorothy K Grange, Scott E Hickey, Bertrand Isidor, Sébastien Küry, Herbert M Lachman, Alinoe Lavillaureix, Michael J Lyons, Carlo Marcelis, Elysa J Marco, Julian A Martinez-Agosto, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J Prijoles, Evelise Riberi, Eric T Rush, Bianca E Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A Stevenson, Kate Wilson, Sandra Jansen, Bert B.A. deVries, Cynthia J Curry

Am J Med Genet A. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: Am J Med Genet A. 2023 Jul; 191(7): 1900–1910. Published online 2023 May 14. doi: 10.1002/ajmg.a.63226

PMCID:: PMC10330231

Abstract Article PDF–2.1M

Select item 99575223.

Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review

Eva-Cristiana Gavril, Irina Nucă, Monica-Cristina Pânzaru, Anca Viorica Ivanov, Cosmin-Teodor Mihai, Lucian-Mihai Antoci, Cristian-Gabriel Ciobanu, Cristina Rusu, Roxana Popescu

Genes (Basel) 2023 Feb; 14(2): 465. Published online 2023 Feb 11. doi: 10.3390/genes14020465

PMCID:: PMC9957522

Abstract Article PDF–2.1M

Select item 95875824.

Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report

Hao-Yi Tan, Bin Wang, Yuan-Zong Song

BMC Pediatr. 2022; 22: 612. Published online 2022 Oct 22. doi: 10.1186/s12887-022-03672-w

PMCID:: PMC9587582

Abstract Article PDF–960K

Select item 86198155.

Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report

Wolfgang Briegel

Int J Environ Res Public Health. 2021 Nov; 18(22): 12064. Published online 2021 Nov 17. doi: 10.3390/ijerph182212064

PMCID:: PMC8619815

Abstract Article PDF–352K

Select item 78985476.

Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy

Stephanie Efthymiou, Marina Dutra‐Clarke, Reza Maroofian, Rauan Kaiyrzhanov, Marcello Scala, Javeria Reza Alvi, Tipu Sultan, Marilena Christoforou, Thi Tuyet Mai Nguyen, Kshitij Mankad, Barbara Vona, Aboulfazl Rad, Pasquale Striano, Vincenzo Salpietro, Maria J. Guillen Sacoto, Maha S. Zaki, Joseph G. Gleeson, Philippe M. Campeau, Bianca E. Russell, Henry Houlden

Epilepsia. 2021 Feb; 62(2): e35–e41. Published online 2021 Jan 7. doi: 10.1111/epi.16801

PMCID:: PMC7898547

Abstract Article PDF–945K

Select item 66988797.

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

Alexej Knaus, Fanny Kortüm, Tjitske Kleefstra, Asbjørg Stray-Pedersen, Dejan Đukić, Yoshiko Murakami, Thorsten Gerstner, Hans van Bokhoven, Zafar Iqbal, Denise Horn, Taroh Kinoshita, Maja Hempel, Peter M. Krawitz

Am J Hum Genet. 2019 Aug 1; 105(2): 395–402. Published online 2019 Jul 25. doi: 10.1016/j.ajhg.2019.06.009

PMCID:: PMC6698879

Abstract Article PDF–958K

Select item 63414668.

Expanding the Clinical and Molecular Characteristics of PIGT-CDG, a Disorder of Glycosylphosphatidylinositol Anchors

Christina Lam, Gretchen A. Golas, Mariska Davids, Marjan Huizing, Megan S. Kane, Donna M. Krasnewich, May Christine V. Malicdan, David R. Adams, Thomas C. Markello, Wadih M. Zein, Andrea L. Gropman, Maya B. Lodish, Constantine A. Stratakis, Irina Maric, Sergio D. Rosenzweig, Eva H. Baker, Carlos R. Ferreira, Noelle R. Danylchuk, Stephen Kahler, Adolfo D. Garnica, G. Bradley Schaefer, Cornelius F. Boerkoel, William A. Gahl, Lynne A. Wolfe

Mol Genet Metab. Author manuscript; available in PMC 2019 Jan 22.

Published in final edited form as: Mol Genet Metab. 2015 Jun-Jul; 115(2-3): 128–140. Published online 2015 May 1. doi: 10.1016/j.ymgme.2015.04.007

PMCID:: PMC6341466

Abstract Article PDF–1.9M

Select item 46787949.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Jason A. O’Rawe, Yiyang Wu, Max J. Dörfel, Alan F. Rope, P.Y. Billie Au, Jillian S. Parboosingh, Sungjin Moon, Maria Kousi, Konstantina Kosma, Christopher S. Smith, Maria Tzetis, Jane L. Schuette, Robert B. Hufnagel, Carlos E. Prada, Francisco Martinez, Carmen Orellana, Jonathan Crain, Alfonso Caro-Llopis, Silvestre Oltra, Sandra Monfort, Laura T. Jiménez-Barrón, Jeffrey Swensen, Sara Ellingwood, Rosemarie Smith, Han Fang, Sandra Ospina, Sander Stegmann, Nicolette Den Hollander, David Mittelman, Gareth Highnam, Reid Robison, Edward Yang, Laurence Faivre, Agathe Roubertie, Jean-Baptiste Rivière, Kristin G. Monaghan, Kai Wang, Erica E. Davis, Nicholas Katsanis, Vera M. Kalscheuer, Edith H. Wang, Kay Metcalfe, Tjitske Kleefstra, A. Micheil Innes, Sophia Kitsiou-Tzeli, Monica Rosello, Catherine E. Keegan, Gholson J. Lyon

Am J Hum Genet. 2015 Dec 3; 97(6): 922–932. Published online 2015 Dec 3. doi: 10.1016/j.ajhg.2015.11.005

PMCID:: PMC4678794

Abstract Article PDF–1007K

Select item 431095010.

The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses

Young Bae Sohn, Shin-Young Yim, Eun-Hae Cho, Ok-Hwa Kim

J Korean Med Sci. 2015 Feb; 30(2): 214–217. Published online 2015 Jan 21. doi: 10.3346/jkms.2015.30.2.214

PMCID:: PMC4310950

Abstract Article PDF–894K

Select item 406755911.

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

Fan Xia, Matthew N. Bainbridge, Tiong Yang Tan, Michael F. Wangler, Angela E. Scheuerle, Elaine H. Zackai, Margaret H. Harr, V. Reid Sutton, Roopa L. Nalam, Wenmiao Zhu, Margot Nash, Monique M. Ryan, Joy Yaplito-Lee, Jill V. Hunter, Matthew A. Deardorff, Samantha J. Penney, Arthur L. Beaudet, Sharon E. Plon, Eric A. Boerwinkle, James R. Lupski, Christine M. Eng, Donna M. Muzny, Yaping Yang, Richard A. Gibbs

Am J Hum Genet. 2014 May 1; 94(5): 784–789. doi: 10.1016/j.ajhg.2014.04.006

PMCID:: PMC4067559

Abstract Article PDF–1.0M

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