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Results: 1 to 20 of 85

1.

Population genetic analysis of the N-acylsphingosine amidohydrolase gene associated with mental activity in humans.

Kim HL, Satta Y.

Genetics. 2008 Mar;178(3):1505-15. doi: 10.1534/genetics.107.083691. Epub 2008 Feb 1.

PMID:
18245333
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations.

Mateu E, Pérez-Lezaun A, Martínez-Arias R, Andrés A, Vallés M, Bertranpetit J, Calafell F.

Hum Genet. 2002 Jun;110(6):532-44. Epub 2002 May 22.

PMID:
12107439
[PubMed - indexed for MEDLINE]
3.

Identification of the N-acylsphingosine amidohydrolase 1 gene (ASAH1) for susceptibility to schizophrenia in a Han Chinese population.

Zhang H, Li D, Su Y, Jiang S, Xu Y, Jiang K, Cui D.

World J Biol Psychiatry. 2012 Feb;13(2):106-13. doi: 10.3109/15622975.2011.559273. Epub 2011 Mar 4.

PMID:
21375364
[PubMed - indexed for MEDLINE]
4.

Global analysis of ATM polymorphism reveals significant functional constraint.

Thorstenson YR, Shen P, Tusher VG, Wayne TL, Davis RW, Chu G, Oefner PJ.

Am J Hum Genet. 2001 Aug;69(2):396-412. Epub 2001 Jul 3.

PMID:
11443540
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family.

Devi AR, Gopikrishna M, Ratheesh R, Savithri G, Swarnalata G, Bashyam M.

J Hum Genet. 2006;51(9):811-4. Epub 2006 Sep 2.

PMID:
16951918
[PubMed - indexed for MEDLINE]
6.

Molecular evolution and balancing selection in the flavin-containing monooxygenase 3 gene (FMO3).

Allerston CK, Shimizu M, Fujieda M, Shephard EA, Yamazaki H, Phillips IR.

Pharmacogenet Genomics. 2007 Oct;17(10):827-39.

PMID:
17885620
[PubMed - indexed for MEDLINE]
7.

SNP frequency, haplotype structure and linkage disequilibrium in elite maize inbred lines.

Ching A, Caldwell KS, Jung M, Dolan M, Smith OS, Tingey S, Morgante M, Rafalski AJ.

BMC Genet. 2002 Oct 7;3:19. Epub 2002 Oct 7.

PMID:
12366868
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Cloning and characterization of the full-length cDNA and genomic sequences encoding murine acid ceramidase.

Li CM, Hong SB, Kopal G, He X, Linke T, Hou WS, Koch J, Gatt S, Sandhoff K, Schuchman EH.

Genomics. 1998 Jun 1;50(2):267-74.

PMID:
9653654
[PubMed - indexed for MEDLINE]
9.

Identification and characterization of coding single-nucleotide polymorphisms within human protocadherin-alpha and -beta gene clusters.

Miki R, Hattori K, Taguchi Y, Tada MN, Isosaka T, Hidaka Y, Hirabayashi T, Hashimoto R, Fukuzako H, Yagi T.

Gene. 2005 Apr 11;349:1-14.

PMID:
15777644
[PubMed - indexed for MEDLINE]
10.

Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations.

Kidd JR, Pakstis AJ, Zhao H, Lu RB, Okonofua FE, Odunsi A, Grigorenko E, Tamir BB, Friedlaender J, Schulz LO, Parnas J, Kidd KK.

Am J Hum Genet. 2000 Jun;66(6):1882-99. Epub 2000 Apr 27.

PMID:
10788337
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Global patterns of human DNA sequence variation in a 10-kb region on chromosome 1.

Yu N, Zhao Z, Fu YX, Sambuughin N, Ramsay M, Jenkins T, Leskinen E, Patthy L, Jorde LB, Kuromori T, Li WH.

Mol Biol Evol. 2001 Feb;18(2):214-22.

PMID:
11158380
[PubMed - indexed for MEDLINE]
Free Article
12.

Phylogeography, genetic structure and diversity in the endangered bearded vulture (Gypaetus barbatus, L) as revealed by mitochondrial DNA.

Godoy JA, Negro JJ, Hiraldo F, Donázar JA.

Mol Ecol. 2004 Feb;13(2):371-90.

PMID:
14717893
[PubMed - indexed for MEDLINE]
13.

Emergence of complex haplotypes from microevolutionary variation in sequence and structure of Colias phosphoglucose isomerase.

Wang B, Watt WB, Aakre C, Hawthorne N.

J Mol Evol. 2009 May;68(5):433-47. doi: 10.1007/s00239-009-9237-2. Epub 2009 May 8.

PMID:
19424742
[PubMed - indexed for MEDLINE]
14.

A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.

Cagliani R, Guerini FR, Fumagalli M, Riva S, Agliardi C, Galimberti D, Pozzoli U, Goris A, Dubois B, Fenoglio C, Forni D, Sanna S, Zara I, Pitzalis M, Zoledziewska M, Cucca F, Marini F, Comi GP, Scarpini E, Bresolin N, Clerici M, Sironi M.

Mol Biol Evol. 2012 Jun;29(6):1599-613. doi: 10.1093/molbev/mss002. Epub 2012 Jan 6.

PMID:
22319148
[PubMed - indexed for MEDLINE]
Free Article
15.

Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.

Koch J, Gärtner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K.

J Biol Chem. 1996 Dec 20;271(51):33110-5.

PMID:
8955159
[PubMed - indexed for MEDLINE]
Free Article
16.

Nucleotide variability at G6pd and the signature of malarial selection in humans.

Saunders MA, Hammer MF, Nachman MW.

Genetics. 2002 Dec;162(4):1849-61.

PMID:
12524354
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A comparison of the variability spectra of two genomic loci in a European group of individuals reveals fundamental differences pointing to selection or a population bottleneck.

Schmegner C, Hoegel J, Vogel W, Assum G.

Ann Hum Genet. 2007 May;71(Pt 3):370-8. Epub 2007 Jan 11.

PMID:
17222291
[PubMed - indexed for MEDLINE]
18.

Molecular cloning and characterization of a human cDNA and gene encoding a novel acid ceramidase-like protein.

Hong SB, Li CM, Rhee HJ, Park JH, He X, Levy B, Yoo OJ, Schuchman EH.

Genomics. 1999 Dec 1;62(2):232-41.

PMID:
10610717
[PubMed - indexed for MEDLINE]
19.

Variation and linkage disequilibrium within odorant receptor gene clusters linked to the human major histocompatibility complex.

Santos PS, Seki Uehara CJ, Ziegler A, Uchanska-Ziegler B, Bicalho Mda G.

Hum Immunol. 2010 Sep;71(9):843-50. doi: 10.1016/j.humimm.2010.06.011. Epub 2010 Jun 12.

PMID:
20547194
[PubMed - indexed for MEDLINE]
20.

Fixation of the human-specific CMP-N-acetylneuraminic acid hydroxylase pseudogene and implications of haplotype diversity for human evolution.

Hayakawa T, Aki I, Varki A, Satta Y, Takahata N.

Genetics. 2006 Feb;172(2):1139-46. Epub 2005 Nov 4.

PMID:
16272417
[PubMed - indexed for MEDLINE]
Free PMC Article

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