Literature DB >> 15909185

Disproportionate stature but normal height in hypochondroplasia.

Felix G Riepe1, Nils Krone, Wolfgang G Sippell.   

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Year:  2005        PMID： 15909185     DOI： 10.1007/s00431-005-1640-0

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  7 in total

1.  Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

Authors:  G Mortier; L Nuytinck; M Craen; J P Renard; J G Leroy; A de Paepe
Journal:  J Med Genet       Date:  2000-03       Impact factor: 6.318

2.  Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

Authors:  Christel Thauvin-Robinet; Laurence Faivre; Patricia Lewin; Jean-Vital De Monléon; Catherine François; Frédéric Huet; Jean-François Couailler; Ana Bélinda Campos-Xavier; Jacky Bonaventure; Martine Le Merrer
Journal:  Am J Med Genet A       Date:  2003-05-15       Impact factor: 2.802

3.  A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.

Authors:  G Grigelioniené; L Hagenäs; O Eklöf; L Neumeyer; P E Haereid; M Anvret
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

4.  Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

Authors:  G A Bellus; E B Spector; P W Speiser; C A Weaver; A T Garber; C R Bryke; J Israel; S S Rosengren; M K Webster; D J Donoghue; C A Francomano
Journal:  Am J Hum Genet       Date:  2000-10-27       Impact factor: 11.025

5.  Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.

Authors:  R Shiang; L M Thompson; Y Z Zhu; D M Church; T J Fielder; M Bocian; S T Winokur; J J Wasmuth
Journal:  Cell       Date:  1994-07-29       Impact factor: 41.582

6.  [Longitudinal data of physical growth of healthy children. II. Height, weight, skinfold thickness of children aged 1.5--16 years (author's transl)].

Authors:  L Reinken; H Stolley; W Droese; G van Oost
Journal:  Klin Padiatr       Date:  1980-01       Impact factor: 1.349

7.  Genotype and phenotype in hypochondroplasia.

Authors:  U Ramaswami; G Rumsby; P C Hindmarsh; C G Brook
Journal:  J Pediatr       Date:  1998-07       Impact factor: 4.406
  7 in total

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