126 related articles for article (PubMed ID: 8157023)
1. Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata.
Wörle H; Lewin MA; Holder M; Bastanier CK; Köhler B
Eur J Pediatr; 1994 Feb; 153(2):140. PubMed ID: 8157023
[No Abstract] [Full Text] [Related]
2. Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.
Kosaki K; Curry CJ; Roeder E; Jones KL
Am J Med Genet; 1997 Feb; 68(4):421-7. PubMed ID: 9021015
[TBL] [Abstract][Full Text] [Related]
3. 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; 102(3):237-42. PubMed ID: 11484200
[TBL] [Abstract][Full Text] [Related]
4. [A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].
Pira-Paredes SM; Montoya-Villada JH; Franco-Restrepo JL; Moncada-Velez M; Cornejo JW
Rev Neurol; 2017 Jun; 64(11):481-488. PubMed ID: 28555453
[TBL] [Abstract][Full Text] [Related]
5. 3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome).
Verloes A; Dresse MF; Jovanovic M; Dodinval P; Geubelle F
Clin Genet; 1989 Mar; 35(3):205-8. PubMed ID: 2650935
[TBL] [Abstract][Full Text] [Related]
6. Ritscher-Schinzel or 3C syndrome, with heterochromatic iris.
Hatzidaki E; Manoura A; Korakaki E; Germanakis J; Karabekios S; Giannakopoulou C
Pediatr Int; 2003 Oct; 45(5):574-6. PubMed ID: 14521535
[No Abstract] [Full Text] [Related]
7. Midline facial defects with ocular colobomata.
Temple IK; Brunner H; Jones B; Burn J; Baraitser M
Am J Med Genet; 1990 Sep; 37(1):23-7. PubMed ID: 1700608
[TBL] [Abstract][Full Text] [Related]
8. Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
Kato K; Oka Y; Muramatsu H; Vasilev FF; Otomo T; Oishi H; Kawano Y; Kidokoro H; Nakazawa Y; Ogi T; Takahashi Y; Saitoh S
J Med Genet; 2020 Apr; 57(4):245-253. PubMed ID: 31712251
[TBL] [Abstract][Full Text] [Related]
9. Parietal bone agenesis and associated multiple congenital anomalies.
de Heer IM; van Nesselrooij BP; Spliet W; Vermeij-Keers C
J Craniofac Surg; 2003 Mar; 14(2):192-6. PubMed ID: 12621289
[TBL] [Abstract][Full Text] [Related]
10. The 3C syndrome: evolution of the phenotype and growth hormone deficiency.
Wheeler PG; Sadeghi-Nejad A; Elias ER
Am J Med Genet; 1999 Nov; 87(1):61-4. PubMed ID: 10528249
[TBL] [Abstract][Full Text] [Related]
11. A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus.
Konya MN; Elmas M; Erginoğlu SE; Yeşil M
Int J Surg Case Rep; 2015; 7C():130-3. PubMed ID: 25434475
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 23072186
[TBL] [Abstract][Full Text] [Related]
13. Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.
Orstavik KH; Bechensteen AG; Fugelseth D; Orderud W
Am J Med Genet; 1998 Jan; 75(3):300-3. PubMed ID: 9475602
[TBL] [Abstract][Full Text] [Related]
14. Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion.
Micheil Innes A
Clin Dysmorphol; 2005 Oct; 14(4):209-210. PubMed ID: 16155425
[No Abstract] [Full Text] [Related]
15. Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.
Verloes A; Dodinval P
Ophthalmic Paediatr Genet; 1990 Mar; 11(1):41-7. PubMed ID: 2348981
[TBL] [Abstract][Full Text] [Related]
16. Joubert syndrome: an affected female with bilateral colobomata.
Dahlstrom JE; Cookman J; Jain S
Pathology; 2000 Nov; 32(4):283-5. PubMed ID: 11186426
[TBL] [Abstract][Full Text] [Related]
17. 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
Eur J Med Genet; 2021 Jul; 64(7):104246. PubMed ID: 34020006
[TBL] [Abstract][Full Text] [Related]
18. [Malformation-retardation syndrome with lobster claws, coloboma of the iris, renal agenesia and ventricular septal defect].
Gehler J; Grosse R
Klin Padiatr; 1972 Sep; 184(5):389-92. PubMed ID: 4673728
[No Abstract] [Full Text] [Related]
19. Cerebellar hypoplasia, facial dysmorphism and internal abnormalities: a new recessive syndrome?
Seller MJ; Pal K; Moscoso G; Nicolaides K; Hyett JA
Clin Dysmorphol; 1998 Jan; 7(1):41-4. PubMed ID: 9546829
[TBL] [Abstract][Full Text] [Related]
20. Congenital cardiac disease and the "cat eye" syndrome.
Freedom RM; Gerald PS
Am J Dis Child; 1973 Jul; 126(1):16-8. PubMed ID: 4723166
[No Abstract] [Full Text] [Related]
[Next] [New Search]
