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Literature DB >> 12424438

SHOX mutations.

Raymond L Hintz¹.

Abstract

Entities: Gene

Mesh：

Substances：

Year: 2002 PMID： 12424438 DOI： 10.1023/a:1020909925921

Source DB: PubMed Journal: Rev Endocr Metab Disord ISSN： 1389-9155 Impact factor: 6.514

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21 in total

1. SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development.

Authors: R J Blaschke; A P Monaghan; S Schiller; B Schechinger; E Rao; H Padilla-Nash; T Ried; G A Rappold
Journal: Proc Natl Acad Sci U S A Date: 1998-03-03 Impact factor: 11.205

Review 2. Homeobox genes and disease.

Authors: E Boncinelli
Journal: Curr Opin Genet Dev Date: 1997-06 Impact factor: 5.578

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. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

Authors: D J Shears; H J Vassal; F R Goodman; R W Palmer; W Reardon; A Superti-Furga; P J Scambler; R M Winter
Journal: Nat Genet Date: 1998-05 Impact factor: 38.330

5. 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

6. 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

Review 7. Homeodomain proteins.

Authors: W J Gehring; M Affolter; T Bürglin
Journal: Annu Rev Biochem Date: 1994 Impact factor: 23.643

Review 2. The Amniotic Fluid Cell-Free Transcriptome Provides Novel Information about Fetal Development and Placental Cellular Dynamics.

Authors: Hee Jin Park; Hee Young Cho; Dong Hyun Cha
Journal: Int J Mol Sci Date: 2021-03-05 Impact factor: 5.923

2 in total

SHOX mutations.

1. SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development.

Review 2. Homeobox genes and disease.

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

4. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

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

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

Review 7. Homeodomain proteins.

8. Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis.

9. Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.

10. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.

1. Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome.

Review 2. The Amniotic Fluid Cell-Free Transcriptome Provides Novel Information about Fetal Development and Placental Cellular Dynamics.