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Items: 1 to 20 of 712

1.

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.

Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11. Erratum in: Eur J Hum Genet. 2015 May;23(5):720.

2.

A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

Elliott AM, Simard LR, Coghlan G, Chudley AE, Chodirker BN, Greenberg CR, Burch T, Ly V, Hatch GM, Zelinski T.

J Med Genet. 2013 Dec;50(12):819-22. doi: 10.1136/jmedgenet-2013-101715. Epub 2013 Sep 24.

PMID:
24065355
3.

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement.

Seidahmed MZ, Alkuraya FS, Shaheed M, Al Zahrani M, Al Manea W, Mansour F, Mustafa T, Farid G, Salih MA.

Am J Med Genet A. 2011 Jun;155A(6):1393-7. doi: 10.1002/ajmg.a.33966. Epub 2011 May 12.

PMID:
21567916
4.

Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.

Orstavik KH, Bechensteen AG, Fugelseth D, Orderud W.

Am J Med Genet. 1998 Jan 23;75(3):300-3.

PMID:
9475602
5.

A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome.

Yurttutan S, Oncel MY, Yurttutan N, Altug N, Erdeve O, Dilmen U.

Genet Couns. 2012;23(3):383-7.

PMID:
23072186
6.

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.

Am J Med Genet A. 2005 Apr 1;134A(1):3-11. Review.

PMID:
15704124
7.

Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.

Kosaki K, Curry CJ, Roeder E, Jones KL.

Am J Med Genet. 1997 Feb 11;68(4):421-7. Review.

PMID:
9021015
8.

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N.

Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11.

PMID:
26358559
9.

3C syndrome with cryptorchidism and posterior embryotoxon.

Papadopoulou E, Sifakis S, Rogalidou M, Makrigiannakis A, Giannakopoulou C, Petersen MB.

Clin Dysmorphol. 2005 Apr;14(2):97-100.

PMID:
15770133
10.

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Preiksaitiene E, Caro A, Benušienė E, Oltra S, Orellana C, Morkūnienė A, Roselló MP, Kasnauskiene J, Monfort S, Kučinskas V, Mayo S, Martinez F.

Am J Med Genet A. 2015 Jun;167(6):1342-8. doi: 10.1002/ajmg.a.36999. Epub 2015 Apr 21.

PMID:
25900314
11.

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.

Leonardi ML, Pai GS, Wilkes B, Lebel RR.

Am J Med Genet. 2001 Aug 15;102(3):237-42. Review.

PMID:
11484200
12.

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA.

Am J Med Genet A. 2015 Dec;167A(12):3180-5. doi: 10.1002/ajmg.a.37354. Epub 2015 Sep 4.

PMID:
26338144
13.

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

Moortgat S, Désir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I.

Am J Med Genet A. 2016 Nov;170(11):2927-2933. doi: 10.1002/ajmg.a.37792. Epub 2016 Jun 22.

PMID:
27333055
14.

MED23-associated intellectual disability in a non-consanguineous family.

Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ.

Am J Med Genet A. 2015 Jun;167(6):1374-80. doi: 10.1002/ajmg.a.37047. Epub 2015 Apr 2.

PMID:
25845469
15.

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.

Eur J Hum Genet. 2015 May;23(5):720. doi: 10.1038/ejhg.2014.278. No abstract available.

16.

Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.

Takeuchi A, Okamoto N, Fujinaga S, Morita H, Shimizu J, Akiyama T, Ninomiya S, Takanashi J, Kubo T.

Eur J Med Genet. 2015 Aug;58(8):369-71. doi: 10.1016/j.ejmg.2015.05.006. Epub 2015 Jun 19.

PMID:
26096993
17.

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.

Graziano C, Wischmeijer A, Pippucci T, Fusco C, Diquigiovanni C, Nõukas M, Sauk M, Kurg A, Rivieri F, Blau N, Hoffmann GF, Chaubey A, Schwartz CE, Romeo G, Bonora E, Garavelli L, Seri M.

Gene. 2015 Apr 1;559(2):144-8. doi: 10.1016/j.gene.2015.01.026. Epub 2015 Jan 14.

PMID:
25597765
18.

3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst.

Sargar KM, Radmanesh A, Herman TE, Siegel MJ.

J Perinatol. 2015 Mar;35(3):233-4. doi: 10.1038/jp.2014.220. No abstract available.

PMID:
25712599
19.

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J.

Eur J Med Genet. 2014 Sep;57(9):503-9. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27.

PMID:
24874887
20.

Ritscher-Schinzel cranio-cerebello-cardiac syndrome.

Herman TE, Siegel MJ.

J Perinatol. 2008 Oct;28(10):715-8. doi: 10.1038/jp.2008.80. No abstract available.

PMID:
18825150

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