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Quoted phrase not found in phrase index: "Ritscher-Schinzel syndrome 2"
Page 1
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Neri S, Maia N, Fortuna AM, Damasio J, Coale E, Willis M, Jorge P, Højte AF, Fenger CD, Møller RS, Bayat A. Neri S, et al. Eur J Med Genet. 2022 Nov;65(11):104624. doi: 10.1016/j.ejmg.2022.104624. Epub 2022 Sep 18. Eur J Med Genet. 2022. PMID: 36130690
Ritscher-Schinzel syndrome (RTSCS) is a rare genetic condition characterized by peculiar craniofacial features and cerebellar and cardiovascular malformations. ...The first two genes described were the autosomal recessive inherited gene WASHC5 associated with …
Ritscher-Schinzel syndrome (RTSCS) is a rare genetic condition characterized by peculiar craniofacial features and cere …
Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?
Gjerulfsen CE, Møller RS, Fenger CD, Hammer TB, Bayat A. Gjerulfsen CE, et al. Eur J Med Genet. 2021 Jul;64(7):104246. doi: 10.1016/j.ejmg.2021.104246. Epub 2021 May 18. Eur J Med Genet. 2021. PMID: 34020006 Review.
The Ritscher-Schinzel syndrome (RTSCS) is a rare condition with craniofacial, cardiac and fossa posterior abnormalities. RTSCS is subdivided into Ritscher-Schinzel syndrome 1 (RTSCS1) caused by pathogenic variants in coiled-coil domain-co …
The Ritscher-Schinzel syndrome (RTSCS) is a rare condition with craniofacial, cardiac and fossa posterior abnormalities …
Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.
Kosaki K, Curry CJ, Roeder E, Jones KL. Kosaki K, et al. Am J Med Genet. 1997 Feb 11;68(4):421-7. doi: 10.1002/(sici)1096-8628(19970211)68:4<421::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9021015 Review.
Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial defects. ...In our review of patients with vermis hypoplasia we ascertained a patient diagnosed as having "Joube …
Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar ver …
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D. Kolanczyk M, et al. Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916641 Free PMC article.
Ritscher-Schinzel syndrome (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and craniofac …
Ritscher-Schinzel syndrome (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogene …
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 functions of gene mutations were then predicted using the PolyPhen-2, SIFT and Mutation Taster tools. Finally, Sanger sequencing was used to verify the mutations. ...The 4 known diseases were Opitz G/BBB syndrome caused by MID1 gene mutation, Loeys-Dietz syndrome cause …
The functions of gene mutations were then predicted using the PolyPhen-2, SIFT and Mutation Taster tools. Finally, Sanger sequencing …
Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome.
Rusnak AJ, Hadfield MI, Chudley AE, Marles SL, Reid GJ, Chodirker BN. Rusnak AJ, et al. Fetal Diagn Ther. 2008;24(4):395-9. doi: 10.1159/000165697. Epub 2008 Oct 28. Fetal Diagn Ther. 2008. PMID: 18957854
OBJECTIVE: The Ritscher-Schinzel syndrome (RSS), also known as the 3C syndrome, is an autosomal recessive disorder classically comprising craniofacial, cerebellar and cardiac defects. ...All went on to develop malformations consistent with RSS d …
OBJECTIVE: The Ritscher-Schinzel syndrome (RSS), also known as the 3C syndrome, is an autosomal recessive …
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.
Wineland A, Menezes MD, Shimony JS, Shinawi MS, Hullar TE, Hirose K. Wineland A, et al. JAMA Otolaryngol Head Neck Surg. 2017 Feb 1;143(2):168-177. doi: 10.1001/jamaoto.2016.3175. JAMA Otolaryngol Head Neck Surg. 2017. PMID: 27832265
We tested 16 patients for mutations in the CHD7 gene; 10 were positive (63%) for mutations, 4 (25%) were negative, and 2 (13%) were inconclusive. CONCLUSIONS AND RELEVANCE: Semicircular canal anomalies were the most consistent finding in our patients with CHARGE syndrome. …
We tested 16 patients for mutations in the CHD7 gene; 10 were positive (63%) for mutations, 4 (25%) were negative, and 2 (13%) were i …
3C syndrome with cryptorchidism and posterior embryotoxon.
Papadopoulou E, Sifakis S, Rogalidou M, Makrigiannakis A, Giannakopoulou C, Petersen MB. Papadopoulou E, et al. Clin Dysmorphol. 2005 Apr;14(2):97-100. Clin Dysmorphol. 2005. PMID: 15770133
We report a case of the 3C (cranio-cerebello-cardiac) syndrome, also known as Ritscher-Schinzel syndrome, a rare autosomal recessive disorder characterized by craniofacial, cerebellar, and cardiac anomalies. In addition to features previously reported the chi …
We report a case of the 3C (cranio-cerebello-cardiac) syndrome, also known as Ritscher-Schinzel syndrome, a rare autoso …
Severe feeding difficulties in 3C syndrome.
Iyer P, Smith R. Iyer P, et al. Clin Dysmorphol. 2005 Apr;14(2):101-103. Clin Dysmorphol. 2005. PMID: 15770134
We describe a further patient with cranio-cerebellar-cardiac or 3C syndrome. She presented with the characteristic features of Dandy-Walker malformation of the brain, congenital cardiac defect, dysmorphic facies and post-natal growth failure. ...Despite her numerous …
We describe a further patient with cranio-cerebellar-cardiac or 3C syndrome. She presented with the characteristic features of …