Literature DB >> 16572514

A second recombination hotspot associated with SHOX deletions.

Andrew R Zinn, Purita Ramos, Judith L Ross.   

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Year:  2006        PMID： 16572514      PMCID： PMC1380296          DOI： 10.1086/500958

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  9 in total

1.  The Turner syndrome-associated neurocognitive phenotype maps to distal Xp.

Authors:  J L Ross; D Roeltgen; H Kushner; F Wei; A R Zinn
Journal:  Am J Hum Genet       Date:  2000-08-08       Impact factor: 11.025

2.  Segmental duplications and copy-number variation in the human genome.

Authors:  Andrew J Sharp; Devin P Locke; Sean D McGrath; Ze Cheng; Jeffrey A Bailey; Rhea U Vallente; Lisa M Pertz; Royden A Clark; Stuart Schwartz; Rick Segraves; Vanessa V Oseroff; Donna G Albertson; Daniel Pinkel; Evan E Eichler
Journal:  Am J Hum Genet       Date:  2005-05-25       Impact factor: 11.025

3.  SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).

Authors:  V Belin; V Cusin; G Viot; D Girlich; A Toutain; A Moncla; M Vekemans; M Le Merrer; A Munnich; V Cormier-Daire
Journal:  Nat Genet       Date:  1998-05       Impact factor: 38.330

4.  Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.

Authors:  E Rao; B Weiss; M Fukami; A Rump; B Niesler; A Mertz; K Muroya; G Binder; S Kirsch; M Winkelmann; G Nordsiek; U Heinrich; M H Breuning; M B Ranke; A Rosenthal; T Ogata; G A Rappold
Journal:  Nat Genet       Date:  1997-05       Impact factor: 38.330

5.  Phenotypes Associated with SHOX Deficiency.

Authors:  J L Ross; C Scott; P Marttila; K Kowal; A Nass; P Papenhausen; J Abboudi; L Osterman; H Kushner; P Carter; M Ezaki; F Elder; F Wei; H Chen; A R Zinn
Journal:  J Clin Endocrinol Metab       Date:  2001-12       Impact factor: 5.958

6.  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

7.  Gene duplications as a recurrent theme in the evolution of the human pseudoautosomal region 1: isolation of the gene ASMTL.

Authors:  K Ried; E Rao; K Schiebel; G A Rappold
Journal:  Hum Mol Genet       Date:  1998-10       Impact factor: 6.150

8.  Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.

Authors:  S Schiller; S Spranger; B Schechinger; M Fukami; S Merker; S L Drop; J Tröger; H Knoblauch; J Kunze; J Seidel; G A Rappold
Journal:  Eur J Hum Genet       Date:  2000-01       Impact factor: 4.246

9.  A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father.

Authors:  F Wei; S Cheng; N Badie; F Elder; C Scott; L Nicholson; J L Ross; A R Zinn
Journal:  Am J Med Genet       Date:  2001-09-01
  9 in total
  3 in total

1.  Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.

Authors:  Sara Benito-Sanz; Darya Gorbenko del Blanco; Celine Huber; N Simon Thomas; Miriam Aza-Carmona; David Bunyan; Vivienne Maloney; Jesús Argente; Valérie Cormier-Daire; Angel Campos-Barros; Karen E Heath
Journal:  Am J Hum Genet       Date:  2006-08       Impact factor: 11.025

2.  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

3.  A Turner syndrome neurocognitive phenotype maps to Xp22.3.

Authors:  Andrew R Zinn; David Roeltgen; Gerry Stefanatos; Purita Ramos; Frederick F Elder; Harvey Kushner; Karen Kowal; Judith L Ross
Journal:  Behav Brain Funct       Date:  2007-05-21       Impact factor: 3.759
  3 in total

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