PMC Articles for MedGen (Select 322127) - PMC

Select item 57897351.

Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan, Faiqa Imtiaz

BMC Med Genet. 2018; 19: 18. Published online 2018 Jan 30. doi: 10.1186/s12881-018-0531-y

PMCID:: PMC5789735

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Select item 42941862.

Sclerocornea in a Patient with Van Den Ende–Gupta Syndrome Homozygous for a SCARF2 Microdeletion

Michele P. Migliavacca, Nara L. M. Sobreira, Graziela P.M. Antonialli, Mariana M. Oliveira, Maria Isabel S.A. Melaragno, Ingele Casteels, Thomy de Ravel, Decio Brunoni, David Valle, Ana Beatriz A. Perez

Am J Med Genet A. Author manuscript; available in PMC 2015 Jan 14.

Published in final edited form as: Am J Med Genet A. 2014 May; 0(5): 1170–1174. Published online 2014 Jan 29. doi: 10.1002/ajmg.a.36425

PMCID:: PMC4294186

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Select item 32149473.

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

M.F. Bedeschi, L. Colombo, F. Mari, K. Hofmann, A. Rauch, B. Gentilin, A. Renieri, D. Clerici

Mol Syndromol. 2011 May; 1(5): 239–245. Published online 2011 May 18. doi: 10.1159/000328135

PMCID:: PMC3214947

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Select item 29488004.

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

Natascia Anastasio, Tawfeg Ben-Omran, Ahmad Teebi, Kevin C.H. Ha, Emilie Lalonde, Rehab Ali, Mariam Almureikhi, Vazken M. Der Kaloustian, Junhui Liu, David S. Rosenblatt, Jacek Majewski, Loydie A. Jerome-Majewska

Am J Hum Genet. 2010 Oct 8; 87(4): 553–559. doi: 10.1016/j.ajhg.2010.09.005

PMCID:: PMC2948800

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Select item 10517075.

A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation

Ajay Gupta, Christine M Hall, Yvonne F Ransley, Victoria A Murday

J Med Genet. 1995 Oct; 32(10): 809–812. doi: 10.1136/jmg.32.10.809

PMCID:: PMC1051707

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Select item 48713436.

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

Marjo K. Hytönen, Meharji Arumilli, Anu K. Lappalainen, Marta Owczarek-Lipska, Vidhya Jagannathan, Sruthi Hundi, Elina Salmela, Patrick Venta, Eva Sarkiala, Tarja Jokinen, Daniela Gorgas, Juha Kere, Pekka Nieminen, Cord Drögemüller, Hannes Lohi

PLoS Genet. 2016 May; 12(5): e1006037. Published online 2016 May 17. doi: 10.1371/journal.pgen.1006037

PMCID:: PMC4871343

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