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6. A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. Børglum AD; Balslev T; Haagerup A; Birkebaek N; Binderup H; Kruse TA; Hertz JM Eur J Hum Genet; 2001 Oct; 9(10):753-7. PubMed ID: 11781686 [TBL] [Abstract][Full Text] [Related]
7. The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1. Kavaslar GN; Onengüt S; Derman O; Kaya A; Tolun A Am J Hum Genet; 2000 May; 66(5):1705-9. PubMed ID: 10762554 [TBL] [Abstract][Full Text] [Related]
8. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Saar K; Al-Gazali L; Sztriha L; Rueschendorf F; Nur-E-Kamal M; Reis A; Bayoumi R Am J Hum Genet; 1999 Dec; 65(6):1666-71. PubMed ID: 10577920 [TBL] [Abstract][Full Text] [Related]
9. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. Roberts E; Hampshire DJ; Pattison L; Springell K; Jafri H; Corry P; Mannon J; Rashid Y; Crow Y; Bond J; Woods CG J Med Genet; 2002 Oct; 39(10):718-21. PubMed ID: 12362027 [TBL] [Abstract][Full Text] [Related]
10. A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. Vazza G; Zortea M; Boaretto F; Micaglio GF; Sartori V; Mostacciuolo ML Am J Hum Genet; 2000 Aug; 67(2):504-9. PubMed ID: 10877981 [TBL] [Abstract][Full Text] [Related]
11. Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family. Delague V; Bareil C; Bouvagnet P; Salem N; Chouery E; Loiselet J; Mégarbané A; Claustres M Ann Neurol; 2001 Aug; 50(2):250-3. PubMed ID: 11506409 [TBL] [Abstract][Full Text] [Related]
12. A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. Leal GF; Roberts E; Silva EO; Costa SM; Hampshire DJ; Woods CG J Med Genet; 2003 Jul; 40(7):540-2. PubMed ID: 12843329 [No Abstract] [Full Text] [Related]
13. Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Krebsová A; Küster W; Lestringant GG; Schulze B; Hinz B; Frossard PM; Reis A; Hennies HC Am J Hum Genet; 2001 Jul; 69(1):216-22. PubMed ID: 11398099 [TBL] [Abstract][Full Text] [Related]
15. A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. Uyguner O; Kayserili H; Li Y; Karaman B; Nürnberg G; Hennies H; Becker C; Nürnberg P; Başaran S; Apak MY; Wollnik B Clin Genet; 2007 Mar; 71(3):212-9. PubMed ID: 17309643 [TBL] [Abstract][Full Text] [Related]
16. Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Delague V; Bareil C; Tuffery S; Bouvagnet P; Chouery E; Koussa S; Maisonobe T; Loiselet J; Mégarbané A; Claustres M Am J Hum Genet; 2000 Jul; 67(1):236-43. PubMed ID: 10848494 [TBL] [Abstract][Full Text] [Related]
17. A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2. Hassan MJ; Chishti MS; Jamal SM; Tariq M; Ahmad W Hum Genet; 2008 Feb; 123(1):77-82. PubMed ID: 18071751 [TBL] [Abstract][Full Text] [Related]
18. Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. Fischer J; Faure A; Bouadjar B; Blanchet-Bardon C; Karaduman A; Thomas I; Emre S; Cure S; Ozgüc M; Weissenbach J; Prud'homme JF Am J Hum Genet; 2000 Mar; 66(3):904-13. PubMed ID: 10712205 [TBL] [Abstract][Full Text] [Related]
19. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Rajab A; Mochida GH; Hill A; Ganesh V; Bodell A; Riaz A; Grant PE; Shugart YY; Walsh CA Neurology; 2003 May; 60(10):1664-7. PubMed ID: 12771259 [TBL] [Abstract][Full Text] [Related]
20. MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. Hampshire DJ; Ayub M; Springell K; Roberts E; Jafri H; Rashid Y; Bond J; Riley JH; Woods CG Eur J Hum Genet; 2006 May; 14(5):543-8. PubMed ID: 16493448 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]