Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature-Reference-Cited by-同舟云学术

Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature

Published:2018-12-21 Issue:1 Volume:7 Page:88-101
ISSN:2047-2919
Container-title:Andrology
language:en
Short-container-title:Andrology

Author:

Cioppi F.¹,Riera‐Escamilla A.²,Manilall A.³,Guarducci E.¹,Todisco T.¹,Corona G.⁴,Colombo F.⁵,Bonomi M.⁶⁷,Flanagan C. A.³,Krausz C.¹^ORCID

Affiliation:

1. Department of Biomedical, Experimental and Clinical Sciences “Mario Serio” University of Florence Florence Italy

2. Andrology Department Fundació Puigvert Universitat Autònoma de Barcelona Instituto de Investigaciones Biomédicas Sant Pau (IIB‐Sant Pau) Barcelona Catalonia Spain

3. School of Physiology University of the Witwatersrand Faculty of Health Sciences Johannesburg South Africa

4. Endocrinology Unit Maggiore‐Bellaria Hospital Bologna Bologna Italy

5. Department of Urology and Gynecology Bologna University Hospital ‐ Policlinico S.Orsola Bologna Italy

6. Department of Clinical Sciences and Community Health University of Milan Milan Italy

7. Division of Endocrinology and Metabolism IRCCS Istituto Auxologico Italiano Milan Italy

Funder

Ministry of Health

National Research Foundation

Publisher

Wiley

Subject

Urology,Endocrinology,Reproductive Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/andr.12563

Reference42 articles.

1. Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia

2. A reassessment of imprinting regions and phenotypes on mouse chromosome 6: Nap1l5 locates within the currently defined sub-proximal imprinting region

3. European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

4. Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency

5. Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology

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