Literature DB >> 28626954

Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family.

Catalina Cabrera-Salcedo1,2, Amy S Shah1,2, Melissa Andrew1, Leah Tyzinski1, Vivian Hwa1,2, Iris Gutmark-Little1,2, Philippe Backeljauw1,2, Andrew Dauber1,2.   

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Year:  2017        PMID： 28626954      PMCID： PMC5698139          DOI： 10.1111/cen.13400

Source DB:  PubMed          Journal:  Clin Endocrinol (Oxf)        ISSN： 0300-0664            Impact factor:   3.478


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  8 in total

1.  Longevity in untreated congenital growth hormone deficiency due to a homozygous mutation in the GHRH receptor gene.

Authors:  Manuel H Aguiar-Oliveira; Francielle T Oliveira; Rossana M C Pereira; Carla R P Oliveira; Amanda Blackford; Eugenia H O Valenca; Elenilde G Santos; Miburge B Gois-Junior; Rafael A Meneguz-Moreno; Vanessa P Araujo; Luis A Oliveira-Neto; Roque P Almeida; Mário A Santos; Natalia T Farias; Debora C R Silveira; Gabriel W Cabral; Flavia R Calazans; Juliane D Seabra; Tiago F Lopes; Endrigo O Rodrigues; Livia A Porto; Igor P Oliveira; Enaldo V Melo; Marco Martari; Roberto Salvatori
Journal:  J Clin Endocrinol Metab       Date:  2009-12-04       Impact factor: 5.958

2.  Isolated GH deficiency due to a GHRH receptor mutation causes hip joint problems and genu valgum, and reduces size but not density of trabecular and mixed bone.

Authors:  Carlos C Epitácio-Pereira; Gabriella M F Silva; Roberto Salvatori; João A M Santana; Francisco A Pereira; Miburge B Gois-Junior; Allan V O Britto; Carla R P Oliveira; Anita H O Souza; Elenilde G Santos; Viviane C Campos; Rossana M C Pereira; Eugênia H O Valença; Rita A A Barbosa; Maria Isabel T Farias; Francisco J A de Paula; Taisa V Ribeiro; Mario C P Oliveira; Manuel H Aguiar-Oliveira
Journal:  J Clin Endocrinol Metab       Date:  2013-09-20       Impact factor: 5.958

3.  Familial isolated growth hormone deficiency is associated with increased systolic blood pressure, central obesity, and dyslipidemia.

Authors:  José Augusto Soares Barreto-Filho; Marta Regina S Alcântara; Roberto Salvatori; Martha Azevedo Barreto; Antônio Carlos Sobral Sousa; Valquíria Bastos; Anita Hermínia Souza; Rossana Maria C Pereira; Peter E Clayton; Matthew S Gill; Manuel Hermínio Aguiar-Oliveira
Journal:  J Clin Endocrinol Metab       Date:  2002-05       Impact factor: 5.958

4.  Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion.

Authors:  J Deladoëy; P Stocker; P E Mullis
Journal:  J Clin Endocrinol Metab       Date:  2001-08       Impact factor: 5.958

5.  Reduced longevity in untreated patients with isolated growth hormone deficiency.

Authors:  Amélie Besson; Souzan Salemi; Sabina Gallati; Arthur Jenal; Rudolf Horn; Pia S Mullis; Primus E Mullis
Journal:  J Clin Endocrinol Metab       Date:  2003-08       Impact factor: 5.958

6.  Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene.

Authors:  Ora Hess; Yasir Hujeirat; Michael P Wajnrajch; Stavit Allon-Shalev; Zvi Zadik; Idit Lavi; Yardena Tenenbaum-Rakover
Journal:  J Clin Endocrinol Metab       Date:  2007-09-04       Impact factor: 5.958

7.  Lack of evidence of premature atherosclerosis in untreated severe isolated growth hormone (GH) deficiency due to a GH-releasing hormone receptor mutation.

Authors:  Joselina Luzia Menezes Oliveira; Celi Marques-Santos; José Augusto Barreto-Filho; Roberto Ximenes Filho; Allan Valadão de Oliveira Britto; Anita Hermínia Oliveira Souza; Clarisse Miranda Prado; Carla Raquel Pereira Oliveira; Rossana Maria C Pereira; Tábita de Almeida Ribeiro Vicente; Catarine Teles Farias; Manuel Hermínio Aguiar-Oliveira; Roberto Salvatori
Journal:  J Clin Endocrinol Metab       Date:  2006-03-07       Impact factor: 5.958

8.  Prolonged retention after aggregation into secretory granules of human R183H-growth hormone (GH), a mutant that causes autosomal dominant GH deficiency type II.

Authors:  Yong Lian Zhu; Becky Conway-Campbell; Michael J Waters; Priscilla S Dannies
Journal:  Endocrinology       Date:  2002-11       Impact factor: 4.736
  8 in total
  1 in total

1.  Polymorphism of the growth hormone gene GH1 in Polish children and adolescents with short stature.

Authors:  Katarzyna Anna Majewska; Andrzej Kedzia; Przemyslaw Kontowicz; Magdalena Prauzinska; Jaroslaw Szydlowski; Marek Switonski; Joanna Nowacka-Woszuk
Journal:  Endocrine       Date:  2020-04-27       Impact factor: 3.633
  1 in total

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