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Quoted phrase not found in phrase index: "Ritscher-Schinzel syndrome 3"
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Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.
Leonardi ML, Pai GS, Wilkes B, Lebel RR. Leonardi ML, et al. Am J Med Genet. 2001 Aug 15;102(3):237-42. Am J Med Genet. 2001. PMID: 11484200 Review.
Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. ...We have had the opportunity recently to study four cases of the Ritscher …
Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome charac …
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID. Descipio C, et al. Am J Med Genet A. 2005 Apr 1;134A(1):3-11. doi: 10.1002/ajmg.a.30573. Am J Med Genet A. 2005. PMID: 15704124 Review.
Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated based on recurrence in siblings born to unaffected parents and parental consanguinity in two familial cases. Molecular and cytogenetic mapping …
Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated bas …
Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.
Orstavik KH, Bechensteen AG, Fugelseth D, Orderud W. Orstavik KH, et al. Am J Med Genet. 1998 Jan 23;75(3):300-3. Am J Med Genet. 1998. PMID: 9475602
Ritscher-Schinzel syndrome (cranio-cerebello-cardiac syndrome, 3C syndrome) is a recently delineated disorder with Dandy-Walker malformation, congenital heart defects, and characteristic face. ...The findings in the 3 sibs demonstrate the intraf …
Ritscher-Schinzel syndrome (cranio-cerebello-cardiac syndrome, 3C syndrome) is a recently delineated diso …
Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate.
Bu H, Liu L, Hu S, Tan Z, Zhao T. Bu H, et al. Mol Med Rep. 2019 May;19(5):3831-3840. doi: 10.3892/mmr.2019.10043. Epub 2019 Mar 15. Mol Med Rep. 2019. PMID: 30896870
The copy number variants (CNVs) were determined by conducting a single nucleotide polymorphism (SNP) array with Illumina HumanOmni1-Quad Beadchip, while information on other gene mutations was obtained from targeted sequencing. The functions of gene mutations were then predict …
The copy number variants (CNVs) were determined by conducting a single nucleotide polymorphism (SNP) array with Illumina HumanOmni1-Quad Bea …