Literature DB >> 19654509

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

Emma M M Burkitt Wright1, Rahat Perveen, Peter E Clayton, Catherine M Hall, Teresa Costa, Annie M Procter, Carol A Giblin, Dian Donnai, Graeme C Black.   

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Year:  2009        PMID： 19654509      PMCID： PMC2763399          DOI： 10.1097/MCD.0b013e32832d06f0

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  14 in total

1.  Magnetic resonance imaging of the hypothalamic-pituitary axis in the diagnosis of growth hormone deficiency.

Authors:  V Tillmann; V W Tang; D A Price; D G Hughes; N B Wright; P E Clayton
Journal:  J Pediatr Endocrinol Metab       Date:  2000 Nov-Dec       Impact factor: 1.634

2.  Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.

Authors:  Y Muragaki; S Mundlos; J Upton; B R Olsen
Journal:  Science       Date:  1996-04-26       Impact factor: 47.728

3.  Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

Authors:  P Q Thomas; M T Dattani; J M Brickman; D McNay; G Warne; M Zacharin; F Cameron; J Hurst; K Woods; D Dunger; R Stanhope; S Forrest; I C Robinson; R S Beddington
Journal:  Hum Mol Genet       Date:  2001-01-01       Impact factor: 6.150

4.  Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

Authors:  Frédéric Laumonnier; Nathalie Ronce; Ben C J Hamel; Paul Thomas; James Lespinasse; Martine Raynaud; Christine Paringaux; Hans Van Bokhoven; Vera Kalscheuer; Jean-Pierre Fryns; Jamel Chelly; Claude Moraine; Sylvain Briault
Journal:  Am J Hum Genet       Date:  2002-11-08       Impact factor: 11.025

5.  A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2.

Authors:  J Collignon; S Sockanathan; A Hacker; M Cohen-Tannoudji; D Norris; S Rastan; M Stevanovic; P N Goodfellow; R Lovell-Badge
Journal:  Development       Date:  1996-02       Impact factor: 6.868

Review 6.  Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?

Authors:  Mehul T Dattani
Journal:  Clin Endocrinol (Oxf)       Date:  2005-08       Impact factor: 3.478

Review 7.  A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

Authors:  Boris Utsch; Karl Becker; Detlef Brock; Michael J Lentze; Frank Bidlingmaier; Michael Ludwig
Journal:  Hum Genet       Date:  2002-04-04       Impact factor: 4.132

8.  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

9.  FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients.

Authors:  Siv Fokstuen; Stylianos E Antonarakis; Jean-Louis Blouin
Journal:  Am J Med Genet A       Date:  2003-03-01       Impact factor: 2.802

10.  Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.

Authors:  Kathryn S Woods; Maria Cundall; James Turton; Karine Rizotti; Ameeta Mehta; Rodger Palmer; Jacqueline Wong; W K Chong; Mahmoud Al-Zyoud; Maryam El-Ali; Timo Otonkoski; Juan-Pedro Martinez-Barbera; Paul Q Thomas; Iain C Robinson; Robin Lovell-Badge; Karen J Woodward; Mehul T Dattani
Journal:  Am J Hum Genet       Date:  2005-03-30       Impact factor: 11.025
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  8 in total

Review 1.  Genetic evaluation of short stature.

Authors:  Andrew Dauber; Ron G Rosenfeld; Joel N Hirschhorn
Journal:  J Clin Endocrinol Metab       Date:  2014-06-10       Impact factor: 5.958

Review 2.  Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).

Authors:  Kyriaki S Alatzoglou; Mehul T Dattani
Journal:  Indian J Pediatr       Date:  2011-12-03       Impact factor: 1.967

Review 3.  Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Authors:  Qing Fang; Akima S George; Michelle L Brinkmeier; Amanda H Mortensen; Peter Gergics; Leonard Y M Cheung; Alexandre Z Daly; Adnan Ajmal; María Ines Pérez Millán; A Bilge Ozel; Jacob O Kitzman; Ryan E Mills; Jun Z Li; Sally A Camper
Journal:  Endocr Rev       Date:  2016-11-09       Impact factor: 19.871

4.  A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.

Authors:  Masaki Takagi; Tomohiro Ishii; Chiharu Torii; Kenjiro Kosaki; Tomonobu Hasegawa
Journal:  Pituitary       Date:  2014-12       Impact factor: 4.107

5.  Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.

Authors:  Melitza S M Elizabeth; Annemieke J M H Verkerk; Anita C S Hokken-Koelega; Joost A M Verlouw; Jesús Argente; Roland Pfaeffle; Sebastian J C M M Neggers; Jenny A Visser; Laura C G de Graaff
Journal:  Pituitary       Date:  2020-11-13       Impact factor: 4.107

6.  Case Report: A Novel Point Mutation of SOX3 in a Subject With Growth Hormone Deficiency, Hypogonadotrophic Hypogonadism, and Borderline Intellectual Disability.

Authors:  Jing Li; Yuxia Zhong; Tao Guo; Yerong Yu; Jianwei Li
Journal:  Front Endocrinol (Lausanne)       Date:  2022-02-28       Impact factor: 5.555

Review 7.  Novel Insights Into the Genetic Causes of Short Stature in Children.

Authors:  Concetta Mastromauro; Francesco Chiarelli
Journal:  touchREV Endocrinol       Date:  2022-05-25

8.  Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism.

Authors:  James Hughes; Sandra Piltz; Nicholas Rogers; Dale McAninch; Lynn Rowley; Paul Thomas
Journal:  PLoS Genet       Date:  2013-03-07       Impact factor: 5.917
  8 in total

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