PMC Articles for MedGen (Select 387834) - PMC

Select item 70688961.

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque, Swathi Shetty

BMC Med Genet. 2020; 21: 50. Published online 2020 Mar 12. doi: 10.1186/s12881-020-0986-5

PMCID:: PMC7068896

Abstract Article PDF–3.3M

Select item 70571132.

Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome

Zhuoguang Li, Caiqi Du, Cai Zhang, Mini Zhang, Yanqin Ying, Yan Liang, Xiaoping Luo

Mol Genet Genomic Med. 2020 Mar; 8(3): e1120. Published online 2020 Jan 8. doi: 10.1002/mgg3.1120

PMCID:: PMC7057113

Abstract Article PDF–689K

Select item 60856503.

Smith–Lemli–Opitz syndrome presenting as acute adrenal crisis in a child: a case report

Chamara Jayamanne, Sajith Sandamal, Kasun Jayasundara, Mayoorathy Saranavabavananthan, Sachith Mettananda

J Med Case Rep. 2018; 12: 217. Published online 2018 Aug 10. doi: 10.1186/s13256-018-1738-4

PMCID:: PMC6085650

Abstract Article PDF–535K

Select item 57493034.

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 35999195.

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]

Julia C Schröder, Anne K Läßig, Danuta Galetzka, Angelika Peters, John C Castle, Stefan Diederich, Ulrich Zechner, Wibke Müller-Forell, Annerose Keilmann, Oliver Bartsch

Behav Brain Funct. 2013; 9: 7. Published online 2013 Feb 18. doi: 10.1186/1744-9081-9-7

PMCID:: PMC3599919

Abstract Article PDF–2.6M

Select item 28690096.

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

Elif Uz, Yasemin Alanay, Dilek Aktas, Ibrahim Vargel, Safak Gucer, Gokhan Tuncbilek, Ferdinand von Eggeling, Engin Yilmaz, Ozgur Deren, Nicole Posorski, Hilal Ozdag, Thomas Liehr, Sevim Balci, Mehmet Alikasifoglu, Bernd Wollnik, Nurten A. Akarsu

Am J Hum Genet. 2010 May 14; 86(5): 789–796. doi: 10.1016/j.ajhg.2010.04.002