Literature DB >> 22968134

Clinical utility gene card for: pseudohypoparathyroidism.

Giovanna Mantovani1, Agnes Linglart, Intza Garin, Caroline Silve, Francesca M Elli, Guiomar Perez de Nanclares.   

Abstract

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Year:  2012        PMID： 22968134      PMCID： PMC3658187          DOI： 10.1038/ejhg.2012.211

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  24 in total

1.  GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.

Authors:  Agnès Linglart; Jean Claude Carel; Michèle Garabédian; Tran Lé; Eric Mallet; Marie Laure Kottler
Journal:  J Clin Endocrinol Metab       Date:  2002-01       Impact factor: 5.958

2.  Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.

Authors:  Guiomar Pérez de Nanclares; Eduardo Fernández-Rebollo; Izortze Santin; Beatriz García-Cuartero; Sonia Gaztambide; Edelmiro Menéndez; Maria Jose Morales; Manuel Pombo; José Ramón Bilbao; Francisco Barros; Nuria Zazo; Wiebke Ahrens; Harald Jüppner; Olaf Hiort; Luis Castaño; Murat Bastepe
Journal:  J Clin Endocrinol Metab       Date:  2007-04-03       Impact factor: 5.958

3.  Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.

Authors:  M Bastepe; A H Lane; H Jüppner
Journal:  Am J Hum Genet       Date:  2001-04-09       Impact factor: 11.025

4.  A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.

Authors:  Agnès Linglart; Robert C Gensure; Robert C Olney; Harald Jüppner; Murat Bastepe
Journal:  Am J Hum Genet       Date:  2005-03-30       Impact factor: 11.025

5.  Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.

Authors:  Murat Bastepe; Leopold F Fröhlich; Agnès Linglart; Hilal S Abu-Zahra; Katsuyoshi Tojo; Leanne M Ward; Harald Jüppner
Journal:  Nat Genet       Date:  2004-12-12       Impact factor: 38.330

6.  Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.

Authors:  Eduardo Fernandez-Rebollo; Beatriz García-Cuartero; Intza Garin; Cristina Largo; Francisco Martínez; Concepcion Garcia-Lacalle; Luis Castaño; Murat Bastepe; Guiomar Pérez de Nanclares
Journal:  J Clin Endocrinol Metab       Date:  2009-12-11       Impact factor: 5.958

7.  Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid.

Authors:  Ugur Unluturk; Ayla Harmanci; Melih Babaoglu; Umit Yasar; Kubilay Varli; Murat Bastepe; Miyase Bayraktar
Journal:  Am J Med Sci       Date:  2008-07       Impact factor: 2.378

8.  Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus.

Authors:  Agnès Linglart; Murat Bastepe; Harald Jüppner
Journal:  Clin Endocrinol (Oxf)       Date:  2007-07-25       Impact factor: 3.478

Review 9.  The GNAS locus and pseudohypoparathyroidism.

Authors:  Murat Bastepe
Journal:  Adv Exp Med Biol       Date:  2008       Impact factor: 2.622

10.  A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

Authors:  Virginie Mariot; Stéphanie Maupetit-Méhouas; Christiane Sinding; Marie-Laure Kottler; Agnès Linglart
Journal:  J Clin Endocrinol Metab       Date:  2008-01-08       Impact factor: 5.958
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  9 in total

1.  Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

Authors:  Shinichiro Sano; Keiko Matsubara; Keisuke Nagasaki; Toru Kikuchi; Kazuhiko Nakabayashi; Kenichiro Hata; Maki Fukami; Masayo Kagami; Tsutomu Ogata
Journal:  J Hum Genet       Date:  2016-04-28       Impact factor: 3.172

2.  European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

Authors:  Intza Garin; Giovanna Mantovani; Urko Aguirre; Anne Barlier; Bettina Brix; Francesca M Elli; Kathleen Freson; Virginie Grybek; Benedetta Izzi; Agnès Linglart; Guiomar Perez de Nanclares; Caroline Silve; Susanne Thiele; Ralf Werner
Journal:  Eur J Hum Genet       Date:  2014-07-09       Impact factor: 4.246

Review 3.  Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care.

Authors:  Thomas Eggermann; Irène Netchine; I Karen Temple; Zeynep Tümer; David Monk; Deborah Mackay; Karin Grønskov; Andrea Riccio; Agnès Linglart; Eamonn R Maher
Journal:  Clin Epigenetics       Date:  2015-03-14       Impact factor: 6.551

4.  Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus.

Authors:  Gustavo Perez-Nanclares; Teresa Velayos; Amaya Vela; Manuel Muñoz-Torres; Luis Castaño
Journal:  PLoS One       Date:  2015-02-24       Impact factor: 3.240

5.  What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.

Authors:  Arrate Pereda; Intza Garin; Guiomar Perez de Nanclares
Journal:  BMC Med Genet       Date:  2018-03-02       Impact factor: 2.103

6.  Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman.

Authors:  Patrizia Del Monte; Carla Micaela Cuttica; Alessandro Marugo; Luca Foppiani; Daniela Audenino; Tomasz Tadeusz Godowicz; Francesca Marta Elli; Giovanna Mantovani; Emilio Di Maria
Journal:  Case Rep Endocrinol       Date:  2019-01-09

7.  Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.

Authors:  Faisal I Rezwan; Rebecca L Poole; Trine Prescott; Joanna M Walker; I Karen Temple; Deborah J G Mackay
Journal:  Eur J Hum Genet       Date:  2014-07-09       Impact factor: 4.246

Review 8.  Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Authors:  Giovanna Mantovani; Murat Bastepe; David Monk; Luisa de Sanctis; Susanne Thiele; Alessia Usardi; S Faisal Ahmed; Roberto Bufo; Timothée Choplin; Gianpaolo De Filippo; Guillemette Devernois; Thomas Eggermann; Francesca M Elli; Kathleen Freson; Aurora García Ramirez; Emily L Germain-Lee; Lionel Groussin; Neveen Hamdy; Patrick Hanna; Olaf Hiort; Harald Jüppner; Peter Kamenický; Nina Knight; Marie-Laure Kottler; Elvire Le Norcy; Beatriz Lecumberri; Michael A Levine; Outi Mäkitie; Regina Martin; Gabriel Ángel Martos-Moreno; Masanori Minagawa; Philip Murray; Arrate Pereda; Robert Pignolo; Lars Rejnmark; Rebecca Rodado; Anya Rothenbuhler; Vrinda Saraff; Ashley H Shoemaker; Eileen M Shore; Caroline Silve; Serap Turan; Philip Woods; M Carola Zillikens; Guiomar Perez de Nanclares; Agnès Linglart
Journal:  Nat Rev Endocrinol       Date:  2018-08       Impact factor: 43.330

9.  Hypercalcitoninaemia in pseudohypo-parathyroidism type 1A and type 1B.

Authors:  Maria P Yavropoulou; Efstathios Chronopoulos; George Trovas; Emmanouil Avramidis; Francesca Marta Elli; Giovanna Mantovani; Pantelis Zebekakis; John G Yovos
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2019-01-31
  9 in total

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