Lathrop M - Search Results

1

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.

Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C. Delmaghani S, et al. Among authors: lathrop m. Nat Genet. 2006 Jul;38(7):770-8. doi: 10.1038/ng1829. Epub 2006 Jun 25. Nat Genet. 2006. PMID: 16804542

2

DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.

Delmaghani S, Aghaie A, Compain-Nouaille S, Ataie A, Lemainque A, Zeinali S, Lathrop M, Weil D, Petit C. Delmaghani S, et al. Among authors: lathrop m. Eur J Hum Genet. 2003 Oct;11(10):816-8. doi: 10.1038/sj.ejhg.5201045. Eur J Hum Genet. 2003. PMID: 14512974

3

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D. Mustapha M, et al. Among authors: lathrop m. Hum Genet. 2002 Apr;110(4):348-50. doi: 10.1007/s00439-002-0690-x. Epub 2002 Mar 12. Hum Genet. 2002. PMID: 11941484

4

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.

Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Mégarbané A, Loiselet J, Weil D, Lathrop M, Petit C. Mustapha M, et al. Among authors: lathrop m. Eur J Hum Genet. 2002 Mar;10(3):210-2. doi: 10.1038/sj.ejhg.5200780. Eur J Hum Genet. 2002. PMID: 11973626

5

Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.

Medlej-Hashim M, Mustapha M, Chouery E, Weil D, Parronaud J, Salem N, Delague V, Loiselet J, Lathrop M, Petit C, Mégarbané A. Medlej-Hashim M, et al. Among authors: lathrop m. Eur J Hum Genet. 2002 Jun;10(6):391-4. doi: 10.1038/sj.ejhg.5200813. Eur J Hum Genet. 2002. PMID: 12080392

6

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.

Masmoudi S, Tlili A, Majava M, Ghorbel AM, Chardenoux S, Lemainque A, Zina ZB, Moala J, Männikkö M, Weil D, Lathrop M, Ala-Kokko L, Drira M, Petit C, Ayadi H. Masmoudi S, et al. Among authors: lathrop m. Eur J Hum Genet. 2003 Feb;11(2):185-8. doi: 10.1038/sj.ejhg.5200934. Eur J Hum Genet. 2003. PMID: 12634867

7

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.

Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. Grall A, et al. Among authors: lathrop m. Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. Nat Genet. 2012. PMID: 22246504

8

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.

Shi J, Yang XR, Ballew B, Rotunno M, Calista D, Fargnoli MC, Ghiorzo P, Bressac-de Paillerets B, Nagore E, Avril MF, Caporaso NE, McMaster ML, Cullen M, Wang Z, Zhang X; NCI DCEG Cancer Sequencing Working Group; NCI DCEG Cancer Genomics Research Laboratory; French Familial Melanoma Study Group; Bruno W, Pastorino L, Queirolo P, Banuls-Roca J, Garcia-Casado Z, Vaysse A, Mohamdi H, Riazalhosseini Y, Foglio M, Jouenne F, Hua X, Hyland PL, Yin J, Vallabhaneni H, Chai W, Minghetti P, Pellegrini C, Ravichandran S, Eggermont A, Lathrop M, Peris K, Scarra GB, Landi G, Savage SA, Sampson JN, He J, Yeager M, Goldin LR, Demenais F, Chanock SJ, Tucker MA, Goldstein AM, Liu Y, Landi MT. Shi J, et al. Among authors: lathrop m. Nat Genet. 2014 May;46(5):482-6. doi: 10.1038/ng.2941. Epub 2014 Mar 30. Nat Genet. 2014. PMID: 24686846 Free PMC article.

9

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.

Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F. Modamio-Høybjør S, et al. Among authors: lathrop m. Hum Genet. 2003 Jan;112(1):24-8. doi: 10.1007/s00439-002-0836-x. Epub 2002 Oct 16. Hum Genet. 2003. PMID: 12483295

10

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

Lefèvre C, Bouadjar B, Ferrand V, Tadini G, Mégarbané A, Lathrop M, Prud'homme JF, Fischer J. Lefèvre C, et al. Among authors: lathrop m. Hum Mol Genet. 2006 Mar 1;15(5):767-76. doi: 10.1093/hmg/ddi491. Epub 2006 Jan 25. Hum Mol Genet. 2006. PMID: 16436457

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