159 related articles for article (PubMed ID: 8737647)
1. Bilateral porencephaly, cerebellar hypoplasia, and internal malformations: two siblings representing a probably new autosomal recessive entity.
Bönnemann CG; Meinecke P
Am J Med Genet; 1996 Jun; 63(3):428-33. PubMed ID: 8737647
[TBL] [Abstract][Full Text] [Related]
2. Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?
Lammer EJ; Scholes T; Abrams L
Clin Dysmorphol; 2001 Jan; 10(1):9-13. PubMed ID: 11152158
[TBL] [Abstract][Full Text] [Related]
3. Familial lissencephaly with cleft palate and severe cerebellar hypoplasia.
Kerner B; Graham JM; Golden JA; Pepkowitz SH; Dobyns WB
Am J Med Genet; 1999 Dec; 87(5):440-5. PubMed ID: 10594886
[TBL] [Abstract][Full Text] [Related]
4. A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.
Hourihane JO; Bennett CP; Chaudhuri R; Robb SA; Martin ND
Neuropediatrics; 1993 Feb; 24(1):43-6. PubMed ID: 7682675
[TBL] [Abstract][Full Text] [Related]
5. A familial syndrome of central nervous system and ocular malformations.
Chemke J; Czernobilsky B; Mundel G; Barishak YR
Clin Genet; 1975 Jan; 7(1):1-7. PubMed ID: 803883
[TBL] [Abstract][Full Text] [Related]
6. Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome).
Rufo-Campos M; Riveros-Huckstadt P; RodrIguez-Criado G; Hernández-Soto R
Brain Dev; 2004 Apr; 26(3):209-12. PubMed ID: 15030912
[TBL] [Abstract][Full Text] [Related]
7. Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family.
Mégarbané A; Delague V; Salem N; Loiselet J
Am J Med Genet; 1999 Nov; 87(1):88-90. PubMed ID: 10528257
[No Abstract] [Full Text] [Related]
8. Genetic malformations of the cerebral cortex and epilepsy.
Guerrini R
Epilepsia; 2005; 46 Suppl 1():32-7. PubMed ID: 15816977
[TBL] [Abstract][Full Text] [Related]
9. Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review.
Bolduc ME; Limperopoulos C
Dev Med Child Neurol; 2009 Apr; 51(4):256-67. PubMed ID: 19191827
[TBL] [Abstract][Full Text] [Related]
10. TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
Maraş-Genç H; Uyur-Yalçın E; Rosti RÖ; Gleeson JG; Kara B
Turk J Pediatr; 2015; 57(3):286-9. PubMed ID: 26701950
[TBL] [Abstract][Full Text] [Related]
11. Ocular malformations and lissencephaly.
Warburg M
Eur J Pediatr; 1987 Sep; 146(5):450-2. PubMed ID: 3119342
[TBL] [Abstract][Full Text] [Related]
12. [Oculocerebral anomalies in Walker's lissencephaly].
Robain O; Dhermy P; Dufier JL; Blanck MF; Dulac O; Bursztyn J
J Fr Ophtalmol; 1985; 8(1):59-72. PubMed ID: 3923093
[TBL] [Abstract][Full Text] [Related]
13. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome.
Hoveyda N; Shield JP; Garrett C; Chong WK; Beardsall K; Bentsi-Enchill E; Mallya H; Thompson MH
J Med Genet; 1999 Sep; 36(9):700-4. PubMed ID: 10507728
[TBL] [Abstract][Full Text] [Related]
14. Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.
Abdel-Salam GM; Abdel-Hamid MS; El-Khayat HA; Eid OM; Saba S; Farag MK; Saleem SN; Gaber KR
Am J Med Genet A; 2015 May; 167A(5):1089-99. PubMed ID: 25755095
[TBL] [Abstract][Full Text] [Related]
15. Autosomal recessive cerebellar hypoplasia.
Mathews KD; Afifi AK; Hanson JW
J Child Neurol; 1989 Jul; 4(3):189-94. PubMed ID: 2768782
[TBL] [Abstract][Full Text] [Related]
16. Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family.
Arnold GL; Bixler D; Girod D
Am J Med Genet; 1983 Sep; 16(1):35-42. PubMed ID: 6638068
[TBL] [Abstract][Full Text] [Related]
17. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
Magen D; Ofir A; Berger L; Goldsher D; Eran A; Katib N; Nijem Y; Vlodavsky E; Tzur S; Behar DM; Fellig Y; Mandel H
Hum Genet; 2015 Mar; 134(3):305-14. PubMed ID: 25560765
[TBL] [Abstract][Full Text] [Related]
18. Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?
Jespers A; Buntinx I; Melis K; Vaerenberg M; Janssens G
Am J Med Genet; 1993 Aug; 47(2):299-302. PubMed ID: 8213924
[TBL] [Abstract][Full Text] [Related]
19. Walker-Warburg syndrome: report of three affected sibs.
Rodgers BL; Vanner LV; Pai GS; Sens MA
Am J Med Genet; 1994 Jan; 49(2):198-201. PubMed ID: 8116667
[TBL] [Abstract][Full Text] [Related]
20. Cerebro-reno-digital syndrome in two sibs.
Piantanida M; Tiberti A; Plebani A; Martelli P; Danesino C
Am J Med Genet; 1993 Sep; 47(3):420-2. PubMed ID: 8135292
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]