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Quoted phrase not found in phrase index: "Orofaciodigital syndrome type 12"
Page 1
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ. Mascibroda LG, et al. Nat Commun. 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. Nat Commun. 2022. PMID: 36229431 Free PMC article.
Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit anomalies. Mutations within 12 cilia-related genes have been identified that cause several types of OFD, sugge …
Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and …
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).
Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G. Monroe GR, et al. Eur J Hum Genet. 2016 Dec;24(12):1752-1760. doi: 10.1038/ejhg.2016.103. Epub 2016 Aug 17. Eur J Hum Genet. 2016. PMID: 27530628 Free PMC article.
We investigated the molecular basis of disease in two brothers with OFD type II, Mohr syndrome, by performing single-nucleotide polymorphism (SNP)-array analysis on the brothers and their healthy parents to identify homozygous regions and candidate genes. ...Our res …
We investigated the molecular basis of disease in two brothers with OFD type II, Mohr syndrome, by performing single-nucleotid …
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C. Thevenon J, et al. Clin Genet. 2016 Dec;90(6):509-517. doi: 10.1111/cge.12785. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 27060890 Free PMC article.
The 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. ...Sanger sequencing of IFT57 in 13 OFDS subjects and 12 subjects with Ellis-Van Creveld syndrome was negative. This report identifies the implication of …
The 13 subtypes of oral-facial-digital syndrome (OFDS) belong to the heterogeneous group of ciliopathies. ...Sanger sequencing of IFT …
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group. Prattichizzo C, et al. Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792. Hum Mutat. 2008. PMID: 18546297
Oral-facial-digital type I (OFDI) syndrome is a male-lethal X-linked dominant developmental disorder belonging to the heterogeneous group of oral-facial-digital syndromes (OFDS). ...Our results contribute to further expand our knowledge on the molecular basis …
Oral-facial-digital type I (OFDI) syndrome is a male-lethal X-linked dominant developmental disorder belonging to the heteroge …