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2. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family. Delague V; Bareil C; Bouvagnet P; Salem N; Chouery E; Loiselet J; Mégarbané A; Claustres M Neurogenetics; 2002 Mar; 4(1):23-7. PubMed ID: 12030328 [TBL] [Abstract][Full Text] [Related]
3. [A new form of hereditary ataxia: X-linked congenital cerebellar hypoplasia (a clinical and molecular genetic analysis)]. Illarioshkin SN; Ivanova-Smolenskaia IA; Markova ED; Nikol'skaia NN; Tsudzi S Zh Nevrol Psikhiatr Im S S Korsakova; 1997; 97(10):17-23. PubMed ID: 9424342 [TBL] [Abstract][Full Text] [Related]
5. New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. Mégarbané A; Delague V; Ruchoux MM; Rizkallah E; Maurage CA; Viollet L; Rouaix-Emery N; Urtizberea A Am J Med Genet; 2001 Jun; 101(2):135-41. PubMed ID: 11391656 [TBL] [Abstract][Full Text] [Related]
6. A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology. Bundey S; Webb TP; Thake A; Todd J J Med Genet; 1985 Aug; 22(4):258-66. PubMed ID: 4045951 [TBL] [Abstract][Full Text] [Related]
7. X-linked mental retardation with the fragile X. A study of 15 families. Mattei JF; Mattei MG; Aumeras C; Auger M; Giraud F Hum Genet; 1981; 59(4):281-9. PubMed ID: 7333582 [TBL] [Abstract][Full Text] [Related]
8. A new form of familial ataxia, deafness, and mental retardation. Reardon W; Wilson J; Cavanagh N; Baraitser M J Med Genet; 1993 Aug; 30(8):694-5. PubMed ID: 8411058 [TBL] [Abstract][Full Text] [Related]
9. Autosomal recessive cerebellar hypoplasia in the Hutterite population. Glass HC; Boycott KM; Adams C; Barlow K; Scott JN; Chudley AE; Fujiwara TM; Morgan K; Wirrell E; McLeod DR Dev Med Child Neurol; 2005 Oct; 47(10):691-5. PubMed ID: 16174313 [TBL] [Abstract][Full Text] [Related]
12. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Joubert M; Eisenring JJ; Robb JP; Andermann F Neurology; 1969 Sep; 19(9):813-25. PubMed ID: 5816874 [No Abstract] [Full Text] [Related]
13. Marker X-associated mental retardation. A study of 150 retarded males. Kähkönen M; Leisti J; Wilska M; Varonen S Clin Genet; 1983 Jun; 23(6):397-404. PubMed ID: 6576874 [TBL] [Abstract][Full Text] [Related]
15. Familial X-linked mental retardation and fragile X chromosomes in two Swedish families. Gustavson KH; Holmgren G; Blomquist HK; Mikkelsen M; Nordenson I; Poulsen H; Tommerup N Clin Genet; 1981 Feb; 19(2):101-10. PubMed ID: 7193540 [TBL] [Abstract][Full Text] [Related]
16. Non-progressive congenital ataxia with cerebellar hypoplasia in three families. Yapici Z; Eraksoy M Acta Paediatr; 2005 Feb; 94(2):248-53. PubMed ID: 15981765 [TBL] [Abstract][Full Text] [Related]
17. A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms. Fabisiak K; Erickson RP Clin Genet; 1990 Nov; 38(5):353-8. PubMed ID: 2126489 [TBL] [Abstract][Full Text] [Related]
18. Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. Schurig V; Orman AV; Bowen P Am J Med Genet; 1981; 9(1):43-53. PubMed ID: 7246619 [TBL] [Abstract][Full Text] [Related]
19. Fragile X syndrome: a major cause of X-linked mental retardation. Butler MG Compr Ther; 1988 Jul; 14(7):3-7. PubMed ID: 3060303 [No Abstract] [Full Text] [Related]
20. X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. Illarioshkin SN; Tanaka H; Markova ED; Nikolskaya NN; Ivanova-Smolenskaya IA; Tsuji S Ann Neurol; 1996 Jul; 40(1):75-83. PubMed ID: 8687195 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]