Search Results - "Acierno JS Jr."

The GPR54 gene as a regulator of puberty.

Authors: Seminara SB Messager S Chatzidaki EE et al.

Source: New England Journal of Medicine. 10/23/2003, Vol. 349 Issue 17, p1614-1627. 14p.

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).

Authors: Miura K Acierno JS Jr Seminara SB

Source: Journal of human genetics [J Hum Genet] 2004; Vol. 49 (5), pp. 265-8.

Publication Type: Comparative Study; Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print Cited Medium: Print ISSN: 1434-5161 (Print) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans.

Authors: Falardeau JL Kennedy JC Acierno JS Jr et al.

Source: BMC genomics [BMC Genomics] 2002; Vol. 3, pp. 3. Date of Electronic Publication: 2002 Feb 05.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1471-2164 (Print) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: PubMed not MEDLINE

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Authors: Sun M Goldin E Stahl S et al.

Source: Human molecular genetics [Hum Mol Genet] 2000 Oct 12; Vol. 9 (17), pp. 2471-8.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

β-Klotho deficiency protects against obesity through a crosstalk between liver, microbiota, and brown adipose tissue.

Authors: Somm E Henry H Bruce SJ et al.

Source: JCI insight [JCI Insight] 2017 Apr 20; Vol. 2 (8). Date of Electronic Publication: 2017 Apr 20 (Print Publication: 2017).

Publication Type: Journal Article

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: PubMed not MEDLINE

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.

Authors: Pitteloud N Meysing A Quinton R et al.

Source: Molecular and cellular endocrinology [Mol Cell Endocrinol] 2006 Jul 25; Vol. 254-255, pp. 60-9. Date of Electronic Publication: 2006 Jun 09.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: North Holland Publishing Country of Publication: Ireland NLM ID: 7500844 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0303-7207 (Print) Linking ISSN: 03037207 NLM ISO Abbreviation: Mol Cell Endocrinol Subsets: MEDLINE

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.

Authors: Pitteloud N Acierno JS Jr Meysing A et al.

Source: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2006 Apr 18; Vol. 103 (16), pp. 6281-6. Date of Electronic Publication: 2006 Apr 10.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0027-8424 (Print) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

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

Authors: Zeng WQ Al-Yamani E Acierno JS Jr et al.

Source: American journal of human genetics [Am J Hum Genet] 2005 Jul; Vol. 77 (1), pp. 16-26. Date of Electronic Publication: 2005 May 03.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.

Authors: Pitteloud N Acierno JS Jr Meysing AU et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2005 Mar; Vol. 90 (3), pp. 1317-22. Date of Electronic Publication: 2004 Dec 21.

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0021-972X (Print) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone.

Authors: Meysing AU Kanasaki H Bedecarrats GY et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2004 Jul; Vol. 89 (7), pp. 3189-98.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Print ISSN: 0021-972X (Print) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Familial schwannomatosis: exclusion of the NF2 locus as the germline event.

Authors: MacCollin M Willett C Heinrich B et al.

Source: Neurology [Neurology] 2003 Jun 24; Vol. 60 (12), pp. 1968-74.

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.

Authors: Acierno JS Jr Shagoury JK Bo-Abbas Y et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2003 Jun; Vol. 88 (6), pp. 2947-50.

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Print ISSN: 0021-972X (Print) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

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

Authors: Freed LA Acierno JS Jr Dai D et al.

Source: American journal of human genetics [Am J Hum Genet] 2003 Jun; Vol. 72 (6), pp. 1551-9. Date of Electronic Publication: 2003 Apr 21.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes.

Authors: Bo-Abbas Y Acierno JS Jr Shagoury JK et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2003 Jun; Vol. 88 (6), pp. 2730-7.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Print ISSN: 0021-972X (Print) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.

Authors: Seminara SB Acierno JS Jr Abdulwahid NA et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2002 Apr; Vol. 87 (4), pp. 1607-12.

Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Print ISSN: 0021-972X (Print) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.

Authors: Acierno JS Jr Kennedy JC Falardeau JL et al.

Source: Genomics [Genomics] 2001 Apr 15; Vol. 73 (2), pp. 203-10.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 8800135 Publication Model: Print Cited Medium: Print ISSN: 0888-7543 (Print) Linking ISSN: 08887543 NLM ISO Abbreviation: Genomics Subsets: MEDLINE

Targeted genome screen of panic disorder and anxiety disorder proneness using homology to murine QTL regions.

Authors: Smoller JW Acierno JS Jr Rosenbaum JF et al.

Source: American journal of medical genetics [Am J Med Genet] 2001 Mar 08; Vol. 105 (2), pp. 195-206.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

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

Authors: Slaugenhaupt SA Acierno JS Jr Helbling LA et al.

Source: American journal of human genetics [Am J Hum Genet] 1999 Sep; Vol. 65 (3), pp. 773-8.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

The role of vitamin D in normal prostate growth and differentiation.

Authors: Konety BR Schwartz GG Acierno JS Jr et al.

Source: Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research [Cell Growth Differ] 1996 Nov; Vol. 7 (11), pp. 1563-70.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: The Association Country of Publication: United States NLM ID: 9100024 Publication Model: Print Cited Medium: Print ISSN: 1044-9523 (Print) Linking ISSN: 10449523 NLM ISO Abbreviation: Cell Growth Differ Subsets: MEDLINE