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Literature DB >> 23650337

Clinical genetic testing for Kallmann syndrome.

Lawrence C Layman.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2013 PMID： 23650337 PMCID： PMC3644595 DOI： 10.1210/jc.2013-1624

Source DB: PubMed Journal: J Clin Endocrinol Metab ISSN： 0021-972X Impact factor: 5.958

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19 in total

1. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Authors: Lisenka E L M Vissers; Conny M A van Ravenswaaij; Ronald Admiraal; Jane A Hurst; Bert B A de Vries; Irene M Janssen; Walter A van der Vliet; Erik H L P G Huys; Pieter J de Jong; Ben C J Hamel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman; Ad Geurts van Kessel
Journal: Nat Genet Date: 2004-08-08 Impact factor: 38.330

2. Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.

Authors: D Bick; B Franco; R J Sherins; B Heye; L Pike; J Crawford; A Maddalena; B Incerti; A Pragliola; T Meitinger; A Ballabio
Journal: N Engl J Med Date: 1992-06-25 Impact factor: 91.245

3. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

Authors: B Franco; S Guioli; A Pragliola; B Incerti; B Bardoni; R Tonlorenzi; R Carrozzo; E Maestrini; M Pieretti; P Taillon-Miller; C J Brown; H F Willard; C Lawrence; M Graziella Persico; G Camerino; A Ballabio
Journal: Nature Date: 1991-10-10 Impact factor: 49.962

4. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.

Authors: N de Roux; J Young; M Misrahi; R Genet; P Chanson; G Schaison; E Milgrom
Journal: N Engl J Med Date: 1997-11-27 Impact factor: 91.245

5. Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism.

Authors: L C Layman; D P Cohen; M Jin; J Xie; Z Li; R H Reindollar; S Bolbolan; D P Bick; R R Sherins; L W Duck; L C Musgrove; J C Sellers; J D Neill
Journal: Nat Genet Date: 1998-01 Impact factor: 38.330

6. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Authors: Catherine Dodé; Jacqueline Levilliers; Jean-Michel Dupont; Anne De Paepe; Nathalie Le Dû; Nadia Soussi-Yanicostas; Roney S Coimbra; Sedigheh Delmaghani; Sylvie Compain-Nouaille; Françoise Baverel; Christophe Pêcheux; Dominique Le Tessier; Corinne Cruaud; Marc Delpech; Frank Speleman; Stefan Vermeulen; Andrea Amalfitano; Yvan Bachelot; Philippe Bouchard; Sylvie Cabrol; Jean-Claude Carel; Henriette Delemarre-van de Waal; Barbara Goulet-Salmon; Marie-Laure Kottler; Odile Richard; Franco Sanchez-Franco; Robert Saura; Jacques Young; Christine Petit; Jean-Pierre Hardelin
Journal: Nat Genet Date: 2003-03-10 Impact factor: 38.330

7. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.

Authors: R Legouis; J P Hardelin; J Levilliers; J M Claverie; S Compain; V Wunderle; P Millasseau; D Le Paslier; D Cohen; D Caterina
Journal: Cell Date: 1991-10-18 Impact factor: 41.582

8. X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.

Authors: J P Hardelin; J Levilliers; I del Castillo; M Cohen-Salmon; R Legouis; S Blanchard; S Compain; P Bouloux; J Kirk; C Moraine
Journal: Proc Natl Acad Sci U S A Date: 1992-09-01 Impact factor: 11.205

9. Identification of HESX1 mutations in Kallmann syndrome.

Authors: Kayce Newbern; Nithya Natrajan; Hyung-Goo Kim; Lynn P Chorich; Lisa M Halvorson; Richard S Cameron; Lawrence C Layman
Journal: Fertil Steril Date: 2013-03-01 Impact factor: 7.329

10. Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

Authors: J P Hardelin; J Levilliers; S Blanchard; J C Carel; M Leutenegger; J P Pinard-Bertelletto; P Bouloux; C Petit
Journal: Hum Mol Genet Date: 1993-04 Impact factor: 6.150

14 in total

1. Functional rescue of Kallmann syndrome-associated prokineticin receptor 2 (PKR2) mutants deficient in trafficking.

Authors: Dan-Na Chen; Yan-Tao Ma; Huadie Liu; Qun-Yong Zhou; Jia-Da Li
Journal: J Biol Chem Date: 2014-04-21 Impact factor: 5.157

2. Olfactory Agenesis in Kallmann Syndrome (KS).

Authors: Sahana Shetty; Nitin Kapoor; Reetu Amritha John; Thomas Vizhalil Paul
Journal: J Clin Diagn Res Date: 2015-04-01

3. Next-generation sequencing of patients with congenital anosmia.

Authors: Anna Alkelai; Tsviya Olender; Catherine Dode; Sagit Shushan; Pavel Tatarskyy; Edna Furman-Haran; Valery Boyko; Ruth Gross-Isseroff; Matthew Halvorsen; Lior Greenbaum; Roni Milgrom; Kazuya Yamada; Ayumi Haneishi; Ilan Blau; Doron Lancet
Journal: Eur J Hum Genet Date: 2017-11-13 Impact factor: 4.246

4. Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.

Authors: Lacey S Williams; Durkadin Demir Eksi; Yiping Shen; Amy C Lossie; Lynn P Chorich; Megan E Sullivan; John A Phillips; Munire Erman; Hyung-Goo Kim; Ozgul M Alper; Lawrence C Layman
Journal: Fertil Steril Date: 2017-06-07 Impact factor: 7.329

5. Fertility and fragrance: another cause of Kallmann syndrome.

Authors: Shlomo Melmed
Journal: J Clin Invest Date: 2015-05-18 Impact factor: 14.808

Review 6. Genetics of Male Infertility.

Authors: Filipe Tenorio Lira Neto; Phil Vu Bach; Bobby Baback Najari; Philip Shihua Li; Marc Goldstein
Journal: Curr Urol Rep Date: 2016-10 Impact factor: 3.092