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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C. Simonis N, et al. Among authors: heinrichs c. J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28. J Med Genet. 2013. PMID: 23812909 Free PMC article.
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
Heide S, Chantot-Bastaraud S, Keren B, Harbison MD, Azzi S, Rossignol S, Michot C, Lackmy-Port Lys M, Demeer B, Heinrichs C, Newfield RS, Sarda P, Van Maldergem L, Trifard V, Giabicani E, Siffroi JP, Le Bouc Y, Netchine I, Brioude F. Heide S, et al. Among authors: heinrichs c. J Med Genet. 2018 Mar;55(3):205-213. doi: 10.1136/jmedgenet-2017-104919. Epub 2017 Dec 9. J Med Genet. 2018. PMID: 29223973
The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
Ulgiati F, Lhoir S, Balikova I, Tenoutasse S, Boros E, Vilain C, Heinrichs C, Brachet C. Ulgiati F, et al. Among authors: heinrichs c. Front Endocrinol (Lausanne). 2021 Nov 12;12:729056. doi: 10.3389/fendo.2021.729056. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34867779 Free PMC article. Clinical Trial.
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.
Peeters S, Declerck K, Thomas M, Boudin E, Beckers D, Chivu O, Heinrichs C, Devriendt K, de Zegher F, Van Hul W, Vanden Berghe W, De Schepper J, Rooman R, Mortier G; WES-BESPEED Study Group. Peeters S, et al. Among authors: heinrichs c. J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa465. doi: 10.1210/clinem/dgaa465. J Clin Endocrinol Metab. 2020. PMID: 32685970
146 results