Literature DB >> 12070265

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.

C Falcinelli1, L Iughetti, A Percesepe, G Calabrese, F Chiarelli, M Cisternino, L De Sanctis, I Pucarelli, G Radetti, M Wasniewska, G Weber, L Stuppia, S Bernasconi, A Forabosco.   

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Year:  2002        PMID： 12070265      PMCID： PMC1735140          DOI： 10.1136/jmg.39.6.e33

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


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  9 in total

1.  A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

Authors:  Sara Benito-Sanz; N Simon Thomas; Céline Huber; Celine Huber; Darya Gorbenko del Blanco; Darya Gorbenko Del Blanco; Miriam Aza-Carmona; John A Crolla; Vivienne Maloney; Gudrun Rappold; Jesús Argente; Jesus Argente; Angel Campos-Barros; Valérie Cormier-Daire; Valerie Cormier-Daire; Karen E Heath
Journal:  Am J Hum Genet       Date:  2005-08-15       Impact factor: 11.025

2.  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

3.  Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.

Authors:  Katja U Schneider; Nitin Sabherwal; Karin Jantz; Ralph Röth; Nadja Muncke; Werner F Blum; Gordon B Cutler; Gudrun Rappold
Journal:  Am J Hum Genet       Date:  2005-06-01       Impact factor: 11.025

4.  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

5.  Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.

Authors:  Angelos Alexandrou; Ioannis Papaevripidou; Kyriakos Tsangaras; Ioanna Alexandrou; Marios Tryfonidis; Violetta Christophidou-Anastasiadou; Eleni Zamba-Papanicolaou; George Koumbaris; Vassos Neocleous; Leonidas A Phylactou; Nicos Skordis; George A Tanteles; Carolina Sismani
Journal:  J Genet       Date:  2016-12       Impact factor: 1.166

6.  Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay.

Authors:  Valentina Gatta; Ivana Antonucci; Elisena Morizio; Chiara Palka; Rita Fischetto; Vahe Mokini; Stefano Tumini; Giuseppe Calabrese; Liborio Stuppia
Journal:  J Hum Genet       Date:  2006-11-08       Impact factor: 3.172

Review 7.  A Track Record on SHOX: From Basic Research to Complex Models and Therapy.

Authors:  Antonio Marchini; Tsutomu Ogata; Gudrun A Rappold
Journal:  Endocr Rev       Date:  2016-06-29       Impact factor: 19.871

8.  PITX2 gain-of-function induced defects in mouse forelimb development.

Authors:  Johan Holmberg; Gorel Ingner; Curt Johansson; Peter Leander; Tord A Hjalt
Journal:  BMC Dev Biol       Date:  2008-02-29       Impact factor: 1.978

9.  Effectiveness of Chromosomal Microarray Analysis for Prenatal Diagnosis of Fetal Echogenic Intracardiac Focus: A Single-Center Experience.

Authors:  Hailong Huang; Meiying Cai; Linyu Liu; Liangpu Xu; Na Lin
Journal:  Int J Gen Med       Date:  2021-05-21
  9 in total

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