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Literature DB >> 27884859

Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.

M I Stamou^1,2, P Varnavas², M Kentrou², F Adamidou³, A Voutetakis⁴, J Jing¹, L Plummer¹, V Koika², N A Georgopoulos².

Abstract

Entities: CellLine Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2016 PMID： 27884859 PMCID： PMC5881574 DOI： 10.1530/EJE-16-0505

Source DB: PubMed Journal: Eur J Endocrinol ISSN： 0804-4643 Impact factor: 6.664

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33 in total

1. Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.

Authors: Wei-Jun Gu; Qian Zhang; Ying-Qian Wang; Guo-Qing Yang; Tian-Pei Hong; Da-Long Zhu; Jin-Kui Yang; Guang Ning; Nan Jin; Kang Chen; Li Zang; An-Ping Wang; Jin Du; Xian-Ling Wang; Li-Juan Yang; Jian-Ming Ba; Zhao-Hui Lv; Jing-Tao Dou; Yi-Ming Mu
Journal: Exp Biol Med (Maywood) Date: 2015-06-01

2. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.

Authors: Janne Tornberg; Gerasimos P Sykiotis; Kimberly Keefe; Lacey Plummer; Xuan Hoang; Janet E Hall; Richard Quinton; Stephanie B Seminara; Virginia Hughes; Guy Van Vliet; Stan Van Uum; William F Crowley; Hiroko Habuchi; Koji Kimata; Nelly Pitteloud; Hannes E Bülow
Journal: Proc Natl Acad Sci U S A Date: 2011-06-23 Impact factor: 11.205

3. The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism.

Authors: Nelly Pitteloud; Frances J Hayes; Paul A Boepple; Suzzunne DeCruz; Stephanie B Seminara; David T MacLaughlin; William F Crowley
Journal: J Clin Endocrinol Metab Date: 2002-01 Impact factor: 5.958

4. Mutations in the CHD7 gene: the experience of a commercial laboratory.

Authors: Cynthia F Bartels; Cheryl Scacheri; Lashonda White; Peter C Scacheri; Sherri Bale
Journal: Genet Test Mol Biomarkers Date: 2010-12

5. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.

Authors: Nelly Pitteloud; Richard Quinton; Simon Pearce; Taneli Raivio; James Acierno; Andrew Dwyer; Lacey Plummer; Virginia Hughes; Stephanie 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 Crowley
Journal: J Clin Invest Date: 2007-01-18 Impact factor: 14.808

6. The GPR54 gene as a regulator of puberty.

Authors: 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; John Dixon; Ursula B Kaiser; Susan A Slaugenhaupt; James F Gusella; Stephen O'Rahilly; Mark B L Carlton; William F Crowley; Samuel A J R Aparicio; William H Colledge
Journal: N Engl J Med Date: 2003-10-23 Impact factor: 91.245

7. Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.

Authors: Fatih Gürbüz; L Damla Kotan; Eda Mengen; Zeynep Şıklar; Merih Berberoğlu; Sebila Dökmetaş; Mehmet Fatih Kılıçlı; Ayla Güven; Birgül Kirel; Nurçin Saka; Şükran Poyrazoğlu; Yaşar Cesur; Murat Doğan; Samim Özen; Mehmet Nuri Özbek; Hüseyin Demirbilek; M Burcu Kekil; Fatih Temiz; Neslihan Önenli Mungan; Bilgin Yüksel; Ali Kemal Topaloğlu
Journal: J Clin Res Pediatr Endocrinol Date: 2012-07-05

8. Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants.

Authors: Kalliope Panoutsopoulou; Konstantinos Hatzikotoulas; Dionysia Kiara Xifara; Vincenza Colonna; Aliki-Eleni Farmaki; Graham R S Ritchie; Lorraine Southam; Arthur Gilly; Ioanna Tachmazidou; Segun Fatumo; Angela Matchan; Nigel W Rayner; Ioanna Ntalla; Massimo Mezzavilla; Yuan Chen; Chrysoula Kiagiadaki; Eleni Zengini; Vasiliki Mamakou; Antonis Athanasiadis; Margarita Giannakopoulou; Vassiliki-Eirini Kariakli; Rebecca N Nsubuga; Alex Karabarinde; Manjinder Sandhu; Gil McVean; Chris Tyler-Smith; Emmanouil Tsafantakis; Maria Karaleftheri; Yali Xue; George Dedoussis; Eleftheria Zeggini
Journal: Nat Commun Date: 2014-11-06 Impact factor: 14.919

9. An integrated map of genetic variation from 1,092 human genomes.

Authors: Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal: Nature Date: 2012-11-01 Impact factor: 49.962

10. Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism.

Authors: Elisa Della Valle; Silvia Vezzani; Vincenzo Rochira; Antonio Raffaele Michele Granata; Bruno Madeo; Elisabetta Genovese; Elisa Pignatti; Marco Marino; Cesare Carani; Manuela Simoni
Journal: Front Endocrinol (Lausanne) Date: 2013-06-07 Impact factor: 5.555

5 in total

Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.

1. Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.

2. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.

3. The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism.

4. Mutations in the CHD7 gene: the experience of a commercial laboratory.

5. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.

6. The GPR54 gene as a regulator of puberty.

7. Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.

8. Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants.

9. An integrated map of genetic variation from 1,092 human genomes.

10. Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism.

1. Treatment of congenital hypogonadotropic hypogonadism in male patients.

2. Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome.

3. Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.

4. Replacement of Male Mini-Puberty.

Review 5. Congenital Hypogonadotrophic Hypogonadism: Minipuberty and the Case for Neonatal Diagnosis.