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Results: 1 to 20 of 63

1.

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.

Vaaralahti K, Tommiska J, Tillmann V, Liivak N, Känsäkoski J, Laitinen EM, Raivio T.

Pediatr Res. 2014 Jul;76(1):115-6. doi: 10.1038/pr.2014.60. Epub 2014 Apr 25. No abstract available.

PMID:
24769923
[PubMed - indexed for MEDLINE]
2.

Re: Identification of HESX1 mutations in Kallmann syndrome.

Niederberger C.

J Urol. 2014 Apr;191(4):1081. doi: 10.1016/j.juro.2014.01.067. Epub 2014 Jan 17. No abstract available.

PMID:
24703149
[PubMed - indexed for MEDLINE]
3.

TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction.

Ragancokova D, Rocca E, Oonk AM, Schulz H, Rohde E, Bednarsch J, Feenstra I, Pennings RJ, Wende H, Garratt AN.

J Clin Invest. 2014 Mar 3;124(3):1214-27.

PMID:
24487590
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Early treatment of Kallmann syndrome may prevent eunuchoid appearance and behavior.

Castañeyra-Perdomo A, Castañeyra-Ruiz L, González-Marrero I, Castañeyra-Ruiz A, Gonzalez-Toledo JM, Castañeyra-Ruiz M, Carmona-Calero EM.

Med Hypotheses. 2014 Jan;82(1):74-6. doi: 10.1016/j.mehy.2013.11.011. Epub 2013 Nov 16.

PMID:
24296236
[PubMed - indexed for MEDLINE]
5.

Insulin-like peptide 3 (INSL3) in men with congenital hypogonadotropic hypogonadism/Kallmann syndrome and effects of different modalities of hormonal treatment: a single-center study of 281 patients.

Trabado S, Maione L, Bry-Gauillard H, Affres H, Salenave S, Sarfati J, Bouvattier C, Delemer B, Chanson P, Le Bouc Y, Brailly-Tabard S, Young J.

J Clin Endocrinol Metab. 2014 Feb;99(2):E268-75. doi: 10.1210/jc.2013-2288. Epub 2013 Nov 15.

PMID:
24243640
[PubMed - indexed for MEDLINE]
6.

Discovery of a large deletion of KAL1 in 2 deaf brothers.

Marlin S, Chantot-Bastaraud S, David A, Loundon N, Jonard L, Portnoï MF, Bonnet C, Louha M, Gherbi S, Garabedian EN, Couderc R, Denoyelle F.

Otol Neurotol. 2013 Dec;34(9):1590-4. doi: 10.1097/MAO.0000000000000228.

PMID:
24232061
[PubMed - indexed for MEDLINE]
7.

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.

Vizeneux A, Hilfiger A, Bouligand J, Pouillot M, Brailly-Tabard S, Bashamboo A, McElreavey K, Brauner R.

PLoS One. 2013 Oct 24;8(10):e77827. doi: 10.1371/journal.pone.0077827. eCollection 2013.

PMID:
24204987
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.

Sarfati J, Fouveaut C, Leroy C, Jeanpierre M, Hardelin JP, Dodé C.

Eur J Endocrinol. 2013 Oct 21;169(6):805-9. doi: 10.1530/EJE-13-0419. Print 2013 Dec.

PMID:
24031091
[PubMed - indexed for MEDLINE]
9.

Olfactory system and demyelination.

Garcia-Gonzalez D, Murcia-Belmonte V, Clemente D, De Castro F.

Anat Rec (Hoboken). 2013 Sep;296(9):1424-34. doi: 10.1002/ar.22736. Epub 2013 Jul 31. Review.

PMID:
23904351
[PubMed - indexed for MEDLINE]
Free Article
10.

Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome.

Montenegro LR, Silveira LF, Tusset C, de Castro M, Versiani BR, Latronico AC, Mendonca BB, Trarbach EB.

Fertil Steril. 2013 Sep;100(3):854-9. doi: 10.1016/j.fertnstert.2013.04.045. Epub 2013 May 28.

PMID:
23721716
[PubMed - indexed for MEDLINE]
11.

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
12.

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
13.

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
14.

Identification of HESX1 mutations in Kallmann syndrome.

Newbern K, Natrajan N, Kim HG, Chorich LP, Halvorson LM, Cameron RS, Layman LC.

Fertil Steril. 2013 Jun;99(7):1831-7. doi: 10.1016/j.fertnstert.2013.01.149. Epub 2013 Mar 1.

PMID:
23465708
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome.

Zhang S, Xu H, Wang T, Liu G, Liu J.

Fertil Steril. 2013 May;99(6):1720-3. doi: 10.1016/j.fertnstert.2013.01.099. Epub 2013 Feb 11.

PMID:
23410897
[PubMed - indexed for MEDLINE]
16.

Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.

McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O, Rondard P, Masumoto KH, Nagano M, Shigeyoshi Y, Pfeifer M, Hulse T, Buchanan CR, Pitteloud N, Martinez-Barbera JP, Dattani MT.

J Clin Endocrinol Metab. 2013 Mar;98(3):E547-57. doi: 10.1210/jc.2012-3067. Epub 2013 Feb 5.

PMID:
23386640
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC.

Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31.

PMID:
23378218
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Kallmann syndrome in women: from genes to diagnosis and treatment.

Meczekalski B, Podfigurna-Stopa A, Smolarczyk R, Katulski K, Genazzani AR.

Gynecol Endocrinol. 2013 Apr;29(4):296-300. doi: 10.3109/09513590.2012.752459. Epub 2013 Jan 31. Review.

PMID:
23368665
[PubMed - indexed for MEDLINE]
19.

Computed tomography of the anterior skull base in Kallmann syndrome reveals specific ethmoid bone abnormalities associated with olfactory bulb defects.

Maione L, Benadjaoud S, Eloit C, Sinisi AA, Colao A, Chanson P, Ducreux D, Benoudiba F, Young J.

J Clin Endocrinol Metab. 2013 Mar;98(3):E537-46. doi: 10.1210/jc.2012-3553. Epub 2013 Jan 24.

PMID:
23348397
[PubMed - indexed for MEDLINE]
20.

Kallmann syndrome and paranoid schizophrenia: a rare combination.

Verhoeven WM, Egger JI, Hovens JE, Hoefsloot L.

BMJ Case Rep. 2013 Jan 17;2013. pii: bcr2012007387. doi: 10.1136/bcr-2012-007387.

PMID:
23329708
[PubMed - indexed for MEDLINE]

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