PMC Articles for MedGen (Select 108279) - PMC

Slimane Allali, Carine Le Goff, Isabelle PressaceDiebold, Gwendoline Pfennig, Clémentine Mahaut, Nathalie Dagoneau, Yasemin Alanay, Angela F Brady, Yanick J Crow, Koen Devriendt, Valérie Drouin-Garraud, Elisabeth Flori, David Geneviève, Raoul C Hennekam, Jane Hurst, Deborah Krakow, Martine Le Merrer, Klaske D Lichtenbelt, Sally A Lynch, Stanislas Lyonnet, Kay MacDermot, Sahar Mansour, André Megarbané, Heloisa G Santos, Miranda Splitt, Andrea Superti-Furga, Sheila Unger, Denise Williams, Arnold Munnich, Valérie Cormier-Daire

J Med Genet. Author manuscript; available in PMC 2015 Apr 29.

Published in final edited form as: J Med Genet. 2011 Jun; 48(6): 417–421. Published online 2011 Mar 17. doi: 10.1136/jmg.2010.087544

PMCID:: PMC4413937

Abstract Article PDF–436K

Select item 25979589.

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

I K Temple, V Shrubb, M Lever, H Bullman, D J G Mackay

J Med Genet. 2007 Oct; 44(10): 637–640. Published online 2007 Jun 29. doi: 10.1136/jmg.2007.050807

PMCID:: PMC2597958

Abstract Article PDF–432K

Select item 856805110.

Influence of Molecular Classes and Growth Hormone Treatment on Growth and Dysmorphology in Prader-Willi Syndrome: A Multicenter Study

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 622079111.

Deletion at 12q12 increases the risk of developmental delay and intellectual disability

Ying Weng, Xiaoping Luo, Ling Hou

Ann Hum Genet. 2018 Nov; 82(6): 482–487. Published online 2018 Aug 29. doi: 10.1111/ahg.12279

PMCID:: PMC6220791

Abstract Article PDF–425K

Select item 292128512.

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly

Nadezda Maksimova, Kenju Hara, Irina Nikolaeva, Tan Chun-Feng, Tomoaki Usui, Mineo Takagi, Yasushi Nishihira, Akinori Miyashita, Hiroshi Fujiwara, Tokuhide Oyama, Anna Nogovicina, Aitalina Sukhomyasova, Svetlana Potapova, Ryozo Kuwano, Hitoshi Takahashi, Masatoyo Nishizawa, Osamu Onodera

J Med Genet. 2010 Aug; 47(8): 538–548. Published online 2010 Jun 24. doi: 10.1136/jmg.2009.074815

PMCID:: PMC2921285

Abstract Article PDF–1.8M

Select item 448169113.

Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs

Estela Cruvinel, Tara Budinetz, Noelle Germain, Stormy Chamberlain, Marc Lalande, Kristen Martins-Taylor

Hum Mol Genet. 2014 Sep 1; 23(17): 4674–4685. Published online 2014 Apr 23. doi: 10.1093/hmg/ddu187

PMCID:: PMC4481691

Abstract Article PDF–905K

Select item 624590814.

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

Giulia Trippella, Paolo Lionetti, Sara Naldini, Francesca Peluso, Matteo Della Monica, Stefano Stagi

Ital J Pediatr. 2018; 44: 138. Published online 2018 Nov 20. doi: 10.1186/s13052-018-0580-z

PMCID:: PMC6245908

Abstract Article PDF–1.9M

Select item 306162315.

Craniofacioskeletal Syndrome: An X-Linked Dominant Disorder With Early Lethality in Males

Roger E. Stevenson, Cam K. Brasington, Cindy Skinner, Richard J. Simensen, J. Edward Spence, Shelli Kesler, Allan L. Reiss, Charles E. Schwartz

Am J Med Genet A. Author manuscript; available in PMC 2011 Mar 21.

Published in final edited form as: Am J Med Genet A. 2007 Oct 1; 143A(19): 2321–2329. doi: 10.1002/ajmg.a.31928

PMCID:: PMC3061623

Abstract Article PDF–776K

Select item 310951016.

Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25

Deepika D’Cunha Burkardt, Jill A. Rosenfeld, Maria Helgeson, Brad Angle, Valerie Banks, Wendy Smith, Karen W. Gripp, Jessica Moline, Rocio Moran, Dmitriy M. Niyazov, Cathy Stevens, Elaine Zackai, Robert Roger Lebel, Douglas Ashley, Nancy Kramer, Ralph S. Lachman, John M. Graham, Jr.

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

Published in final edited form as: Am J Med Genet A. 2011 Jun; 155(6): 1336–1351. Published online 2011 May 5. doi: 10.1002/ajmg.a.34049

PMCID:: PMC3109510

Abstract Article PDF–4.1M

Select item 821329017.

Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene

Yanjie Duan, Lu Liu, Xiujuan Zhang, Xiuyun Jiang, Jin Xu, Qingbo Guan

Medicine (Baltimore) 2021 Jun 18; 100(24): e26309. Published online 2021 Jun 18. doi: 10.1097/MD.0000000000026309

PMCID:: PMC8213290

Abstract Article PDF–261K

Select item 627982818.

Antimicrobial resistance prediction and phylogenetic analysis of Neisseria gonorrhoeae isolates using the Oxford Nanopore MinION sequencer

Daniel Golparian, Valentina Donà, Leonor Sánchez-Busó, Sunniva Foerster, Simon Harris, Andrea Endimiani, Nicola Low, Magnus Unemo

Sci Rep. 2018; 8: 17596. Published online 2018 Dec 4. doi: 10.1038/s41598-018-35750-4

PMCID:: PMC6279828

Abstract Article PDF–1.6M

Select item 674251519.

Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches

Merlin G. Butler, Ann M. Manzardo, Janice L. Forster

Curr Pediatr Rev. Author manuscript; available in PMC 2019 Sep 12.

Published in final edited form as: Curr Pediatr Rev. 2016; 12(2): 136–166. doi: 10.2174/1573396312666151123115250

PMCID:: PMC6742515

Abstract Article PDF–351K

Select item 645169720.

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

Kevin C.J. Nixon, Justine Rousseau, Max H. Stone, Mohammed Sarikahya, Sophie Ehresmann, Seiji Mizuno, Naomichi Matsumoto, Noriko Miyake, DDD Study, Diana Baralle, Shane McKee, Kosuke Izumi, Alyssa L. Ritter, Solveig Heide, Delphine Héron, Christel Depienne, Hannah Titheradge, Jamie M. Kramer, Philippe M. Campeau

Am J Hum Genet. 2019 Apr 4; 104(4): 596–610. Published online 2019 Mar 14. doi: 10.1016/j.ajhg.2019.02.001

PMCID:: PMC6451697

Abstract Article PDF–2.0M

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