Literature DB >> 11073544

Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy.

M A Aldred, R J Bagshaw, K Macdermot, D Casson, S H Murch, J A Walker-Smith, R C Trembath.   

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Year:  2000        PMID： 11073544      PMCID： PMC1734481          DOI： 10.1136/jmg.37.11.e35

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.

Authors:  Meena Balasubramanian; Edward Atack; Kath Smith; Michael James Parker
Journal:  J Hum Genet       Date:  2015-03-12       Impact factor: 3.172

2.  Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle.

Authors:  Noriko Makita; Junichiro Sato; Philippe Rondard; Hiroshi Fukamachi; Yasuhito Yuasa; Micheala A Aldred; Makiko Hashimoto; Toshiro Fujita; Taroh Iiri
Journal:  Proc Natl Acad Sci U S A       Date:  2007-10-25       Impact factor: 11.205

3.  Case Report: A Paternal 20q13.2-q13.32 Deletion Patient With Growth Retardation Improved by Growth Hormone.

Authors:  Yu Liu; Ying Yang; Liming Chu; Shuai Ren; Ying Li; Aimin Gao; Jing Wen; Wanling Deng; Yan Lu; Lingyin Kong; Bo Liang; Xiaoshan Shao
Journal:  Front Genet       Date:  2022-03-24       Impact factor: 4.599

4.  A mouse model for osseous heteroplasia.

Authors:  Michael T Cheeseman; Kate Vowell; Tertius A Hough; Lynn Jones; Paras Pathak; Hayley E Tyrer; Michelle Kelly; Roger Cox; Madhuri V Warren; Jo Peters
Journal:  PLoS One       Date:  2012-12-19       Impact factor: 3.240

Review 5.  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
  5 in total

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