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Pediatric Research|November 18, 2016
A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24Kate V Everett, Paris Ataliotis, Barry A Chioza, et al.
Human Genetics|August 25, 2009
Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencingKate V Everett, Barry A Chioza, Christina Georgoula, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23Helen L Hanson, Meredith J Wilson, John P Short, et al.
European Journal of Human Genetics : EJHG|May 15, 2008
Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24Kate V Everett, Francesca Capon, Christina Georgoula, et al.
BMC Medical Genetics|February 21, 2018
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case reportMuhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, et al.
BMC Medical Genetics|November 18, 2016
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from IsraelSharon Aharoni, Katy E S Barwick, Rachel Straussberg, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasiaLettie E Rawlins, Hannah Jones, Olivia Wenger, et al.
Iranian Journal of Public Health|December 14, 2016
A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case ReportMasoud Dehghan Tezerjani, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, et al.
BMC Medical Genetics|November 12, 2015
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentationsThomas Iype, Vafa Alakbarzade, Mary Iype, et al.
American Journal of Human Genetics|March 1, 2008
Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23Kate V Everett, Barry A Chioza, Christina Georgoula, et al.
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