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Journal Abstract Search

228 related items for PubMed ID: 10577920

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  • 4. 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
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  • 5. Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene.
    Bennett CL, Parisi MA, Eckert ML, Huynh HM, Chance PF, Glass IA.
    Am J Med Genet A; 2004 Mar 01; 125A(2):117-24; discussion 117. PubMed ID: 14981711
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  • 6. Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.
    Afzal AR, Rajab A, Fenske C, Crosby A, Lahiri N, Ternes-Pereira E, Murday VA, Houlston R, Patton MA, Jeffery S.
    Hum Genet; 2000 Mar 01; 106(3):351-4. PubMed ID: 10798366
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  • 7. 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 01; 50(2):250-3. PubMed ID: 11506409
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  • 10. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.
    Moynihan L, Jackson AP, Roberts E, Karbani G, Lewis I, Corry P, Turner G, Mueller RF, Lench NJ, Woods CG.
    Am J Hum Genet; 2000 Feb 01; 66(2):724-7. PubMed ID: 10677332
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  • 14. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
    Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D.
    Am J Hum Genet; 2008 Nov 01; 83(5):559-71. PubMed ID: 18950740
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  • 15. 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 01; 69(1):216-22. PubMed ID: 11398099
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  • 16. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.
    Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K, Wrogemann K.
    Am J Hum Genet; 1998 Jul 01; 63(1):140-7. PubMed ID: 9634523
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  • 17. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.
    Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, Albanese A, Wood NW.
    Am J Hum Genet; 2001 Apr 01; 68(4):895-900. PubMed ID: 11254447
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  • 18. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.
    Chafai-Elalaoui S, Chalon M, Elkhartoufi N, Kriouele Y, Mansouri M, Attié-Bitach T, Sefiani A, Baala L.
    J Med Case Rep; 2015 Nov 05; 9():254. PubMed ID: 26541515
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