PMC Articles for MedGen (Select 349761) - PMC

Select item 32345041.

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

Peter Hammond, Femke Hannes, Michael Suttie, Koen Devriendt, Joris Robert Vermeesch, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steve Williams, Dominic McMullan, Sarah T South, John C Carey, Oliver Quarrell

Eur J Hum Genet. 2012 Jan; 20(1): 33–40. Published online 2011 Jul 27. doi: 10.1038/ejhg.2011.135

PMCID:: PMC3234504

Abstract Article PDF–590K

Select item 77138622.

Anesthetic considerations for an adult with Wolf-Hirschhorn syndrome - A case report -

Hye-Jin Kim, Jun A You, Seyeon Park, Eun-Jung Kim, Soon Ji Park, Hee Young Kim

Anesth Pain Med (Seoul) 2020 Jan 31; 15(1): 120–123. Published online 2020 Jan 31. doi: 10.17085/apm.2020.15.1.120

PMCID:: PMC7713862

Abstract Article PDF–1.2M

Select item 71337473.

The tale of two genes: from next-generation sequencing to phenotype

Mersedeh Rohanizadegan, Aishwarya Siddharath, Kyle Retterer, Christina Hung, Olaf Bodamer

Cold Spring Harb Mol Case Stud. 2020 Apr; 6(2): a004846. doi: 10.1101/mcs.a004846

PMCID:: PMC7133747

Abstract Article PDF–3.0M

Select item 66374834.

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

Claudia Ismania Samogy-Costa, Elisa Varella-Branco, Frederico Monfardini, Helen Ferraz, Rodrigo Ambrósio Fock, Ricardo Henrique Almeida Barbosa, André Luiz Santos Pessoa, Ana Beatriz Alvarez Perez, Naila Lourenço, Maria Vibranovski, Ana Krepischi, Carla Rosenberg, Maria Rita Passos-Bueno

J Neurodev Disord. 2019; 11: 13. Published online 2019 Jul 18. doi: 10.1186/s11689-019-9273-1

PMCID:: PMC6637483

Abstract Article PDF–1.6M

Select item 37245145.

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

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