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Results: 1 to 20 of 112

1.

The best-laid plans go oft awry: synaptogenic growth factor signaling in neuropsychiatric disease.

Williams AJ, Umemori H.

Front Synaptic Neurosci. 2014 Mar 18;6:4. doi: 10.3389/fnsyn.2014.00004. eCollection 2014. Review.

PMID:
24672476
[PubMed]
Free PMC Article
2.

Invertebrate models of kallmann syndrome: molecular pathogenesis and new disease genes.

Di Schiavi E, Andrenacci D.

Curr Genomics. 2013 Mar;14(1):2-10. doi: 10.2174/138920213804999174.

PMID:
23997646
[PubMed]
Free PMC Article
3.

Ontogenesis of gonadotropin-releasing hormone neurons: a model for hypothalamic neuroendocrine cell development.

Stevenson EL, Corella KM, Chung WC.

Front Endocrinol (Lausanne). 2013 Jul 16;4:89. doi: 10.3389/fendo.2013.00089. eCollection 2013.

PMID:
23882261
[PubMed]
Free PMC Article
4.

The Novel Actions of the Metabolite GnRH-(1-5) are Mediated by a G Protein-Coupled Receptor.

Larco DO, Semsarzadeh NN, Cho-Clark M, Mani SK, Wu TJ.

Front Endocrinol (Lausanne). 2013 Jul 8;4:83. doi: 10.3389/fendo.2013.00083. eCollection 2013.

PMID:
23847594
[PubMed]
Free PMC Article
5.

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C.

J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28.

PMID:
23812909
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Molecular mechanisms of fibroblast growth factor signaling in physiology and pathology.

Belov AA, Mohammadi M.

Cold Spring Harb Perspect Biol. 2013 Jun 1;5(6). pii: a015958. doi: 10.1101/cshperspect.a015958. Review.

PMID:
23732477
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Clinical genetic testing for Kallmann syndrome.

Layman LC.

J Clin Endocrinol Metab. 2013 May;98(5):1860-2. doi: 10.1210/jc.2013-1624. No abstract available.

PMID:
23650337
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N.

Am J Hum Genet. 2013 May 2;92(5):725-43. doi: 10.1016/j.ajhg.2013.04.008.

PMID:
23643382
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

Pingault V, Bodereau V, Baral V, Marcos S, Watanabe Y, Chaoui A, Fouveaut C, Leroy C, Vérier-Mine O, Francannet C, Dupin-Deguine D, Archambeaud F, Kurtz FJ, Young J, Bertherat J, Marlin S, Goossens M, Hardelin JP, Dodé C, Bondurand N.

Am J Hum Genet. 2013 May 2;92(5):707-24. doi: 10.1016/j.ajhg.2013.03.024.

PMID:
23643381
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

PROK2/PROKR2 Signaling and Kallmann Syndrome.

Dodé C, Rondard P.

Front Endocrinol (Lausanne). 2013 Apr 12;4:19. doi: 10.3389/fendo.2013.00019. eCollection 2013.

PMID:
23596439
[PubMed]
Free PMC Article
11.

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, Dwyer AA, Buck CL, Choi JH, Seminara SB, Quinton R, Monies D, Meyer B, Hall JE, Pitteloud N, Crowley WF Jr.

J Clin Endocrinol Metab. 2013 May;98(5):E943-53. doi: 10.1210/jc.2012-4116. Epub 2013 Mar 26.

PMID:
23533228
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A comprehensive review of genetics and genetic testing in azoospermia.

Hamada AJ, Esteves SC, Agarwal A.

Clinics (Sao Paulo). 2013;68 Suppl 1:39-60. Review.

PMID:
23503954
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The genetic basis of female reproductive disorders: etiology and clinical testing.

Layman LC.

Mol Cell Endocrinol. 2013 May 6;370(1-2):138-48. doi: 10.1016/j.mce.2013.02.016. Epub 2013 Mar 14. Review.

PMID:
23499866
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation.

Brioude F, Bouligand J, Francou B, Fagart J, Roussel R, Viengchareun S, Combettes L, Brailly-Tabard S, Lombès M, Young J, Guiochon-Mantel A.

PLoS One. 2013;8(1):e53896. doi: 10.1371/journal.pone.0053896. Epub 2013 Jan 18.

PMID:
23349759
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mutual influences between the main olfactory and vomeronasal systems in development and evolution.

Suárez R, García-González D, de Castro F.

Front Neuroanat. 2012 Dec 24;6:50. doi: 10.3389/fnana.2012.00050. eCollection 2012.

PMID:
23269914
[PubMed]
Free PMC Article
16.

Opposite-sex housing reactivates the declining GnRH system in aged transgenic male mice with FGF signaling deficiency.

Rochester JR, Chung WC, Hayes TB, Tsai PS.

Am J Physiol Endocrinol Metab. 2012 Dec 15;303(12):E1428-39. doi: 10.1152/ajpendo.00289.2012. Epub 2012 Oct 9.

PMID:
23047985
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Maternal behavior in transgenic mice with reduced fibroblast growth factor receptor function in gonadotropin-releasing hormone neurons.

Brooks LR, Le CD, Chung WC, Tsai PS.

Behav Brain Funct. 2012 Sep 5;8:47. doi: 10.1186/1744-9081-8-47.

PMID:
22950531
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

Hanchate NK, Giacobini P, Lhuillier P, Parkash J, Espy C, Fouveaut C, Leroy C, Baron S, Campagne C, Vanacker C, Collier F, Cruaud C, Meyer V, García-Piñero A, Dewailly D, Cortet-Rudelli C, Gersak K, Metz C, Chabrier G, Pugeat M, Young J, Hardelin JP, Prevot V, Dodé C.

PLoS Genet. 2012 Aug;8(8):e1002896. doi: 10.1371/journal.pgen.1002896. Epub 2012 Aug 23.

PMID:
22927827
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.

Vaaralahti K, Raivio T, Koivu R, Valanne L, Laitinen EM, Tommiska J.

Mol Syndromol. 2012 Jun;3(1):1-5. Epub 2012 May 16.

PMID:
22855648
[PubMed]
Free PMC Article
20.

An ancient founder mutation in PROKR2 impairs human reproduction.

Avbelj Stefanija M, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dode C, Crowley WF Jr, Pitteloud N.

Hum Mol Genet. 2012 Oct 1;21(19):4314-24. doi: 10.1093/hmg/dds264. Epub 2012 Jul 5.

PMID:
22773735
[PubMed - indexed for MEDLINE]
Free PMC Article

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