Slaugenhaupt SA - Search Results

1

The GPR54 gene as a regulator of puberty.

Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF Jr, Aparicio SA, Colledge WH. Seminara SB, et al. Among authors: slaugenhaupt sa. N Engl J Med. 2003 Oct 23;349(17):1614-27. doi: 10.1056/NEJMoa035322. N Engl J Med. 2003. PMID: 14573733 Free article.

2

Familial dysautonomia.

Slaugenhaupt SA, Gusella JF. Slaugenhaupt SA, et al. Curr Opin Genet Dev. 2002 Jun;12(3):307-11. doi: 10.1016/s0959-437x(02)00303-9. Curr Opin Genet Dev. 2002. PMID: 12076674 Review.

3

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF. Zeng WQ, et al. Am J Hum Genet. 2005 Jul;77(1):16-26. doi: 10.1086/431216. Epub 2005 May 3. Am J Hum Genet. 2005. PMID: 15871139 Free PMC article.

4

Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.

Slaugenhaupt SA, Acierno JS Jr, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF. Slaugenhaupt SA, et al. Am J Hum Genet. 1999 Sep;65(3):773-8. doi: 10.1086/302549. Am J Hum Genet. 1999. PMID: 10441585 Free PMC article.

5

A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4.

Freed LA, Acierno JS Jr, Dai D, Leyne M, Marshall JE, Nesta F, Levine RA, Slaugenhaupt SA. Freed LA, et al. Among authors: slaugenhaupt sa. Am J Hum Genet. 2003 Jun;72(6):1551-9. doi: 10.1086/375452. Epub 2003 Apr 21. Am J Hum Genet. 2003. PMID: 12707861 Free PMC article.

6

Identification of the first non-Jewish mutation in familial Dysautonomia.

Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA. Leyne M, et al. Among authors: slaugenhaupt sa. Am J Med Genet A. 2003 May 1;118A(4):305-8. doi: 10.1002/ajmg.a.20052. Am J Med Genet A. 2003. PMID: 12687659

7

Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor.

Reppert SM, Godson C, Mahle CD, Weaver DR, Slaugenhaupt SA, Gusella JF. Reppert SM, et al. Among authors: slaugenhaupt sa. Proc Natl Acad Sci U S A. 1995 Sep 12;92(19):8734-8. doi: 10.1073/pnas.92.19.8734. Proc Natl Acad Sci U S A. 1995. PMID: 7568007 Free PMC article.

8

Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR.

Chadwick BP, Helbling LA, Angrist M, Chakravarti A, Gusella JF, Slaugenhaupt SA. Chadwick BP, et al. Among authors: slaugenhaupt sa. Cytogenet Cell Genet. 1998;83(3-4):236-7. doi: 10.1159/000015189. Cytogenet Cell Genet. 1998. PMID: 10072588 No abstract available.

9

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.

Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, Liu L, Gusella JF, Slaugenhaupt SA. Hims MM, et al. Among authors: slaugenhaupt sa. Genomics. 2007 Sep;90(3):389-96. doi: 10.1016/j.ygeno.2007.05.012. Epub 2007 Jul 17. Genomics. 2007. PMID: 17644305 Free PMC article.

10

The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain.

McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF. McClatchey AI, et al. Among authors: slaugenhaupt sa. Hum Mol Genet. 1993 Jun;2(6):745-9. doi: 10.1093/hmg/2.6.745. Hum Mol Genet. 1993. PMID: 8394762

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