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James Acierno

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Nelly Pitteloud; Richard Quinton; Simon Pearce; Taneli Raivio; James S Acierno; Andrew A Dwyer; Lacey Plummer; Virginia A Hughes; Stephanie B Seminara; Yu-Zhu Cheng; Wei-Ping Li; Gavin MacColl; Anna V Eliseenkova; Shaun K Olsen; Omar A Ibrahimi; Frances J Hayes; Paul Boepple; Janet E Hall; Pierre Bouloux; Moosa Mohammadi; William F Crowley
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
Nelly Pitteloud; Astrid U Meysing; Richard Quinton; James S Acierno; Andrew A Dwyer; Lacey Plummer; Eric Fliers; Paul Boepple; Frances J Hayes; Stephanie B Seminara; Virginia A Hughes; Jinghong Ma; Pierre Bouloux; Moosa Mohammadi; William F Crowley
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Nelly Pitteloud; James S Acierno; Astrid U Meysing; Anna V Eliseenkova; Jinghong Ma; Omar A Ibrahimi; Daniel L Metzger; Frances J Hayes; Andrew A Dwyer; Virginia A Hughes; Maria Yialamas; Janet E Hall; Ellen Grant; Moosa Mohammadi; William F Crowley
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.

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All Publications

2007: Nelly Pitteloud; Richard Quinton; Simon Pearce; Taneli Raivio; James S Acierno; Andrew A Dwyer; Lacey Plummer; Virginia A Hughes; Stephanie B Seminara; Yu-Zhu Cheng; Wei-Ping Li; Gavin MacColl; Anna V Eliseenkova; Shaun K Olsen; Omar A Ibrahimi; Frances J Hayes; Paul Boepple; Janet E Hall; Pierre Bouloux; Moosa Mohammadi; William F Crowley
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
The Journal of clinical investigation 2007;117(2):457-63.
2006: Nelly Pitteloud; Astrid U Meysing; Richard Quinton; James S Acierno; Andrew A Dwyer; Lacey Plummer; Eric Fliers; Paul Boepple; Frances J Hayes; Stephanie B Seminara; Virginia A Hughes; Jinghong Ma; Pierre Bouloux; Moosa Mohammadi; William F Crowley
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Molecular and cellular endocrinology 2006;254-255():60-9.
2006: Nelly Pitteloud; James S Acierno; Astrid U Meysing; Anna V Eliseenkova; Jinghong Ma; Omar A Ibrahimi; Daniel L Metzger; Frances J Hayes; Andrew A Dwyer; Virginia A Hughes; Maria Yialamas; Janet E Hall; Ellen Grant; Moosa Mohammadi; William F Crowley
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(16):6281-6.
2005: Wen-Qi Zeng; Eiman Al-Yamani; James S Acierno; Susan A Slaugenhaupt; Tammy Gillis; Marcy E MacDonald; Pinar T Ozand; James Gusella
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
American journal of human genetics 2005;77(1):16-26.
2005: Nelly Pitteloud; James S Acierno; Astrid U Meysing; Andrew A Dwyer; Frances J Hayes; William F Crowley
Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.
The Journal of clinical endocrinology and metabolism 2005;90(3):1317-22.
2004: Astrid U Meysing; Haruhiko Kanasaki; Gregoy Y Bedecarrats; James S Acierno; P Michael Conn; Kathryn A Martin; Stephanie B Seminara; Janet E Hall; William F Crowley; Ursula B Kaiser
GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone.
The Journal of clinical endocrinology and metabolism 2004;89(7):3189-98.
2004: Kiyonori Miura; James S Acierno; Stephanie B Seminara
Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).
Journal of human genetics 2004;49(5):265-8.
2003: Stephanie B Seminara; Sophie Messager; Emmanouella E Chatzidaki; Rosemary R Thresher; James S Acierno; Jenna K Shagoury; Yousef Bo-Abbas; Wendy Kuohung; Kristine M Schwinof; Alan G Hendrick; Dirk Zahn; Dixon John; Ursula B Kaiser; Susan A Slaugenhaupt; James Gusella; Stephen O'Rahilly; Mark B L Carlton; William F Crowley; Samuel A J R Aparicio; William H Colledge
The GPR54 gene as a regulator of puberty.
The New England journal of medicine 2003;349(17):1614-27.
2003: Mia MacCollin; C Willett; Bianca Heinrich; Lee B Jacoby; James S Acierno; A Perry; David N Louis
Familial schwannomatosis: exclusion of the NF2 locus as the germline event.
Neurology 2003;60(12):1968-74.
2003: James S Acierno; Jenna K Shagoury; Yousef Bo-Abbas; William F Crowley; Stephanie B Seminara
A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.
The Journal of clinical endocrinology and metabolism 2003;88(6):2947-50.
2003: Yousef Bo-Abbas; James S Acierno; Jenna K Shagoury; William F Crowley; Stephanie B Seminara
Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes.
The Journal of clinical endocrinology and metabolism 2003;88(6):2730-7.
2003: Lisa A Freed; James S Acierno; Daisy Dai; Maire Leyne; Jane E Marshall; Francesca Nesta; Robert A Levine; Susan A Slaugenhaupt
A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4.
American journal of human genetics 2003;72(6):1551-9.
2002: Stephanie B Seminara; James S Acierno; Najim A Abdulwahid; William F Crowley; David H Margolin
Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.
The Journal of clinical endocrinology and metabolism 2002;87(4):1607-12.
2002: John Falardeau; John C Kennedy; James S Acierno; Mei Sun; Stefanie Stahl; Ehud Goldin; Susan A Slaugenhaupt
Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans.
BMC genomics 2002;3():3.
2001: James S Acierno; John C Kennedy; John Falardeau; Maire Leyne; M C Bromley; M W Colman; Mei Sun; Catherine M Bove; L K Ashworth; L H Chadwick; Taryn A Schiripo; S Ma; Ehud Goldin; Raphael Schiffmann; Susan A Slaugenhaupt
A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.
Genomics 2001;73(2):203-10.
2001: Jordan W Smoller; James S Acierno; Jerrold F Rosenbaum; Joseph Biederman; Mark H Pollack; S Meminger; J A Pava; L H Chadwick; C White; M Bulzacchelli; Susan A Slaugenhaupt
Targeted genome screen of panic disorder and anxiety disorder proneness using homology to murine QTL regions.
American journal of medical genetics 2001;105(2):195-206.
2000: Mei Sun; Ehud Goldin; Stefanie Stahl; John Falardeau; John C Kennedy; James S Acierno; Catherine M Bove; Christine R Kaneski; James W Nagle; M C Bromley; M Colman; Raphael Schiffmann; Susan A Slaugenhaupt
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.
Human molecular genetics 2000;9(17):2471-8.
1999: Susan A Slaugenhaupt; James S Acierno; LA Helbling; Catherine M Bove; Ehud Goldin; G Bach; Raphael Schiffmann; James Gusella
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes.
American journal of human genetics 1999;65(3):773-8.