PMC Articles for MedGen (Select 98390) - PMC

Ranim Mahmoud, Anna Leonenko, Merlin G. Butler, Pamela Flodman, June-Anne Gold, Jennifer L. Miller, Elizabeth Roof, Elisabeth Dykens, Daniel J. Driscoll, Virginia Kimonis

Clin Genet. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Clin Genet. 2021 Jul; 100(1): 29–39. Published online 2021 Mar 13. doi: 10.1111/cge.13947

PMCID:: PMC8568051

Abstract Article PDF–167K

Select item 78206324.

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

Pauline E. Schneeberger, Leonie von Elsner, Emma L. Barker, Peter Meinecke, Iris Marquardt, Malik Alawi, Katharina Steindl, Pascal Joset, Anita Rauch, Petra J.G. Zwijnenburg, Marjan M. Weiss, Catherine L.R. Merry, Kerstin Kutsche

Am J Hum Genet. 2020 Dec 3; 107(6): 1044–1061. Published online 2020 Nov 6. doi: 10.1016/j.ajhg.2020.10.007

PMCID:: PMC7820632

Abstract Article PDF–2.6M

Select item 65495515.

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA

Maria Blomqvist, Marie Falkenberg Smeland, Julia Lindgren, Per Sikora, Hilde Monica Frostad Riise Stensland, Jorge Asin-Cayuela

Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3): a003954. doi: 10.1101/mcs.a003954

PMCID:: PMC6549551

Abstract Article PDF–5.6M

Select item 64075276.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. Blackburn, Stephan J. Sanders, Kévin Uguen, Jacqueline Harris, Julie S. Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy H. Li, Usha Kini, Shelagh Joss, Charlotte von der Lippe, Christopher T. Gordon, Jennifer B. Humberson, Laurie Robak, Daryl A. Scott, Vernon R. Sutton, Cara M. Skraban, Jennifer J. Johnston, Annapurna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica H. Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri A. Zarate, Malin Kvarnung, Kevin P. Lally, Peggy A. Kulch, Brina Daniels, Andres Hernandez-Garcia, Nicholas Stong, Julie McGaughran, Kyle Retterer, Kristian Tveten, Jennifer Sullivan, Madeleine R. Geisheker, Asbjorg Stray-Pedersen, Jennifer M. Tarpinian, Eric W. Klee, Julie C. Sapp, Jacob Zyskind, Øystein L. Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind L. Busk, Jaya Punetha, Rolph Pfundt, Anna Lindstrand, Ann Nordgren, Fayth Kalb, Megha Desai, Ashley Harmon Ebanks, Shalini N. Jhangiani, Tammie Dewan, Zeynep H. Coban Akdemir, Aida Telegrafi, Elaine H. Zackai, Amber Begtrup, Xiaofei Song, Annick Toutain, Ingrid M. Wentzensen, Sylvie Odent, Dominique Bonneau, Xénia Latypova, Wallid Deb, CAUSES Study, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine I. Murphree, Pavel N. Pichurin, Katherine Agre, Ralitza Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin L. Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie G. Biesecker, Dan Lowenstein, Jennifer E. Posey, Anne-Sophie Denommé-Pichon, Deciphering Developmental Disorders study, Claude Férec, Xiang-Jiao Yang, Jill A. Rosenfeld, Brigitte Gilbert-Dussardier, Séverine Audebert-Bellanger, Richard Redon, Holly A.F. Stessman, Christoffer Nellaker, Yaping Yang, James R. Lupski, David B. Goldstein, Evan E. Eichler, Francois Bolduc, Stéphane Bézieau, Sébastien Küry, Philippe M. Campeau

Am J Hum Genet. 2019 Mar 7; 104(3): 530–541. Published online 2019 Feb 28. doi: 10.1016/j.ajhg.2019.01.010

PMCID:: PMC6407527

Abstract Article PDF–2.4M

Select item 62794727.

Roger E. Stevenson, Albert E. Chudley, Anand K. Srivastava, Jayson Rodriguez, Michael J. Friez, Charles E. Schwartz

Clin Dysmorphol. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Clin Dysmorphol. 2019 Jan; 28(1): 1–6. doi: 10.1097/MCD.0000000000000242

PMCID:: PMC6279472

Abstract Article PDF–304K

Select item 60836198.

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten

BMC Med Genet. 2018; 19: 140. Published online 2018 Aug 8. doi: 10.1186/s12881-018-0655-0

PMCID:: PMC6083619

Abstract Article PDF–5.9M

Select item 59921339.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa M. Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth-Bolard, Charu Deshpande, Claudia A.L. Ruivenkamp, Dagmar Wieczorek, The Deciphering Developmental Disorders Study, Diana Baralle, Edward M. Blair, Hartmut Engels, Hermann-Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton-Smith, Kate Chandler, Katrina Tatton-Brown, Katelyn Payne, Katherine Helbig, Kelly Radtke, Kimberly M. Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner-Glindzicz, Marieke F. van Dooren, Marielle Alders, Marije Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola S. Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek-Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellaker, Han G. Brunner, Andrew O.M. Wilkie

Am J Hum Genet. 2018 Jun 7; 102(6): 1195–1203. Published online 2018 May 31. doi: 10.1016/j.ajhg.2018.04.014

PMCID:: PMC5992133

Abstract Article PDF–1.3M

Select item 574930310.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Mark J Hamilton, Richard C Caswell, Natalie Canham, Trevor Cole, Helen V Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury-Ecob, Soo-Mi Park, Leema Robert, Cecilie F Rustad, Emma Wakeling, Andrew O M Wilkie, The Deciphering Developmental Disorders Study, Stephen R F Twigg, Mohnish Suri

J Med Genet. 2018 Jan; 55(1): 28–38. Published online 2017 Oct 11. doi: 10.1136/jmedgenet-2017-104620

PMCID:: PMC5749303

Abstract Article PDF–1.3M

Select item 496238011.

Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report

Felipe Ruiz-Botero, Harry Pachajoa

J Med Case Rep. 2016; 10: 204. Published online 2016 Jul 27. doi: 10.1186/s13256-016-0988-2

PMCID:: PMC4962380

Abstract Article PDF–1.9M

Select item 398052112.

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Michael J. Parker, Hayley Archer, Helen V. Firth, Soo-Mi Park, Natalie Canham, Susan E. Holder, Meredith Wilson, Anna Hackett, Michael Field, James A.B. Floyd, UK10K Consortium, Matthew Hurles, F. Lucy Raymond

Am J Hum Genet. 2014 Apr 3; 94(4): 618–624. doi: 10.1016/j.ajhg.2014.03.006

PMCID:: PMC3980521

Abstract Article PDF–1.2M

Select item 372451413.

Analysis of MLL2 genein the first Brazilian family with Kabuki syndrome

Nancy Mizue Kokitsu-Nakata, Aline Lourenço Petrin, Jason Paul Heard, Siulan Vendramini-Pittoli, Laura E Henkle, Daniela Vera Cruz dos Santos, Jeffrey Clark Murray, Antonio Richieri-Costa

Am J Med Genet A. Author manuscript; available in PMC 2013 Jul 26.

Published in final edited form as: Am J Med Genet A. 2012 Aug; 0(8): 2003–2008. Published online 2012 Jun 27. doi: 10.1002/ajmg.a.35454

PMCID:: PMC3724514

Abstract Article PDF–1.2M

Select item 320862614.

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Benjamin D. Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J. Clegg, Mauricio R. Delgado, Kenneth Rosenbaum, Christèle Dubourg, Véronique David, Ann Haskins Olney, Lars-Erik Wehner, Ute Hehr, Sherri Bale, Aimee Paulussen, Hubert J. Smeets, Emily Hardisty, Anna Tylki-Szymanska, Ewa Pronicka, Michelle Clemens, Elizabeth Mcpherson, Raoul Cm Hennekam, Jin Hahn, Elaine Stashinko, Eric Levey, Dagmar Wieczorek, Elizabeth Roeder, Chayim Can Schell-Apacik, Carol W. Booth, Ronald L. Thomas, Sue Kenwrick, Amelia Keaton, Joan Z. Balog, Donald Hadley, Nan Zhou, Robert Long, Jorge I. Velez, Daniel E. Pineda-Alvarez, Sylvie Odent, Erich Roessler, Maximilian Muenke

J Med Genet. Author manuscript; available in PMC 2011 Nov 7.

Published in final edited form as: J Med Genet. 2010 Aug; 47(8): 513–524. Published online 2009 Dec 2. doi: 10.1136/jmg.2009.073049

PMCID:: PMC3208626

Abstract Article

Select item 318332815.

Long Term Survival in TARP Syndrome and Confirmation of RBM10 as the Disease Causing Gene

Karen W. Gripp, Elizabeth Hopkins, Jennifer J. Johnston, Caitlin Krause, William B. Dobyns, Leslie G. Biesecker

Am J Med Genet A. Author manuscript; available in PMC 2012 Oct 1.

Published in final edited form as: Am J Med Genet A. 2011 Oct; 155(10): 2516–2520. Published online 2011 Sep 9. doi: 10.1002/ajmg.a.34190

PMCID:: PMC3183328

Abstract Article PDF–796K

Select item 306032416.

The phenotype of recurrent 10q22q23 deletions and duplications

Bregje W M van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh Chakravarthy Sreenath Nagamani, Diane L Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sebastien Jacquemont, Jacques S Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Pawel Stankiewicz, Han G Brunner, Orsetta Zuffardi, Scott B Selleck, James R Lupski, Bert B A de Vries

Eur J Hum Genet. 2011 Apr; 19(4): 400–408. Published online 2011 Jan 19. doi: 10.1038/ejhg.2010.211

PMCID:: PMC3060324

Abstract Article PDF–568K

Select item 270009117.

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

Luis Fernández, Julián Nevado, Fernando Santos, Damià Heine-Suñer, Victor Martinez-Glez, Sixto García-Miñaur, Rebeca Palomo, Alicia Delicado, Isidora López Pajares, María Palomares, Luis García-Guereta, Eva Valverde, Federico Hawkins, Pablo Lapunzina

BMC Med Genet. 2009; 10: 48. Published online 2009 Jun 2. doi: 10.1186/1471-2350-10-48

PMCID:: PMC2700091

Abstract Article PDF–1.9M

Select item 247544918.

Accuracy of the clinical diagnosis of Down syndrome.

L. Devlin, P. J. Morrison

Ulster Med J. 2004 May; 73(1): 4–12.

PMCID:: PMC2475449

Summary Page Browse PDF–1.6M

Select item 128829119.

Chromosome Breakage Hotspots and Delineation of the Critical Region for the 9p-Deletion Syndrome

Laurie A. Christ, Carol A. Crowe, Mark A. Micale, Jeffrey M. Conroy, Stuart Schwartz

Am J Hum Genet. 1999 Nov; 65(5): 1387–1395. Published online 1999 Oct 8. doi: 10.1086/302606

PMCID:: PMC1288291

Abstract Article PDF–695K

Select item 105128520.

Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.

J P Fryns, C Van Lingen, K Devriendt, E Legius, P Raus

J Med Genet. 1998 Apr; 35(4): 333–335. doi: 10.1136/jmg.35.4.333

PMCID:: PMC1051285

Summary Page Browse PDF–928K

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