Literature DB >> 22510850

Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).

Juliette Albuisson1, Sébastien Schmitt, Sabine Baron, Stéphane Bézieau, Sara Benito-Sanz, Karen E Heath.   

Abstract

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Year:  2012        PMID： 22510850      PMCID： PMC3400739          DOI： 10.1038/ejhg.2012.64

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


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  11 in total

1.  Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature.

Authors:  Sara Benito-Sanz; Miriam Aza-Carmona; Amaya Rodríguez-Estevez; Ixaso Rica-Etxebarria; Ricardo Gracia; Angel Campos-Barros; Karen E Heath
Journal:  Eur J Hum Genet       Date:  2011-11-09       Impact factor: 4.246

2.  PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.

Authors:  Sara Benito-Sanz; Darya Gorbenko del Blanco; Miriam Aza-Carmona; Luis F Magano; Pablo Lapunzina; Jesús Argente; Angel Campos-Barros; Karen E Heath
Journal:  Hum Mutat       Date:  2006-10       Impact factor: 4.878

3.  Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial.

Authors:  Werner F Blum; Brenda J Crowe; Charmian A Quigley; Heike Jung; Dachuang Cao; Judith L Ross; LeeAnn Braun; Gudrun Rappold
Journal:  J Clin Endocrinol Metab       Date:  2006-10-17       Impact factor: 5.958

4.  Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Authors:  Gudrun Rappold; Werner F Blum; Elena P Shavrikova; Brenda J Crowe; Ralph Roeth; Charmian A Quigley; Judith L Ross; Beate Niesler
Journal:  J Med Genet       Date:  2006-12-20       Impact factor: 6.318

5.  Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.

Authors:  Katja U Schneider; Antonio Marchini; Nitin Sabherwal; Ralph Röth; Beate Niesler; Tiina Marttila; Rüdiger J Blaschke; Margaret Lawson; Miroslav Dumic; Gudrun Rappold
Journal:  Hum Mutat       Date:  2005-07       Impact factor: 4.878

6.  Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Authors:  Verónica Barca-Tierno; Miriam Aza-Carmona; Eva Barroso; Damia Heine-Suner; Dimitar Azmanov; Jordi Rosell; Begoña Ezquieta; Lucia Sentchordi Montané; Teresa Vendrell; Jaime Cruz; Fernando Santos; José Ignacio Rodríguez; Jesús Pozo; Jesús Argente; Luba Kalaydjieva; Ricardo Gracía; Angel Campos-Barros; Sara Benito-Sanz; Karen E Heath
Journal:  Eur J Hum Genet       Date:  2011-06-29       Impact factor: 4.246

7.  High incidence of SHOX anomalies in individuals with short stature.

Authors:  C Huber; M Rosilio; A Munnich; V Cormier-Daire
Journal:  J Med Genet       Date:  2006-04-05       Impact factor: 6.318

8.  Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

Authors:  S Benito-Sanz; E Barroso; D Heine-Suñer; A Hisado-Oliva; V Romanelli; J Rosell; A Aragones; M Caimari; J Argente; J L Ross; A R Zinn; R Gracia; P Lapunzina; A Campos-Barros; K E Heath
Journal:  J Clin Endocrinol Metab       Date:  2010-12-08       Impact factor: 5.958

9.  Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.

Authors:  Sara Benito-Sanz; Jose Luis Royo; Eva Barroso; Beatriz Paumard-Hernández; Ana C Barreda-Bonis; Pengfei Liu; Ricardo Gracía; James R Lupski; Ángel Campos-Barros; José Luis Gómez-Skarmeta; Karen Elise Heath
Journal:  J Med Genet       Date:  2012-07       Impact factor: 6.318

10.  Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain.

Authors:  J Chen; G Wildhardt; Z Zhong; R Röth; B Weiss; D Steinberger; J Decker; W F Blum; G Rappold
Journal:  J Med Genet       Date:  2009-07-02       Impact factor: 6.318
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  4 in total

1.  Genetic interactions between Shox2 and Hox genes during the regional growth and development of the mouse limb.

Authors:  Stanley J Neufeld; Fan Wang; John Cobb
Journal:  Genetics       Date:  2014-09-11       Impact factor: 4.562

2.  Copy number variants in short children born small for gestational age.

Authors:  Jan M Wit; Hermine A van Duyvenvoorde; Jan B van Klinken; Janina Caliebe; Cathy A J Bosch; Julian C Lui; Antoinet C J Gijsbers; Egbert Bakker; Martijn H Breuning; Wilma Oostdijk; Monique Losekoot; Jeffrey Baron; Gerhard Binder; Michael B Ranke; Claudia A L Ruivenkamp
Journal:  Horm Res Paediatr       Date:  2014-10-08       Impact factor: 2.852

3.  Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.

Authors:  Hannah Verdin; Ana Fernández-Miñán; Sara Benito-Sanz; Sandra Janssens; Bert Callewaert; Kathleen De Waele; Jean De Schepper; Inge François; Björn Menten; Karen E Heath; José Luis Gómez-Skarmeta; Elfride De Baere
Journal:  Sci Rep       Date:  2015-12-03       Impact factor: 4.379

4.  Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.

Authors:  Adrian Mc Cormack; Karen Claxton; Fern Ashton; Philip Asquith; Edward Atack; Roberto Mazzaschi; Paula Moverley; Rachel O'Connor; Methat Qorri; Karen Sheath; Donald R Love; Alice M George
Journal:  Mol Cytogenet       Date:  2016-03-31       Impact factor: 2.009
  4 in total

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