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Homozygous N540K hypochondroplasia-First report: Radiological and clinical features

García de Rosa, María Laura; Fano, Virginia; Araoz, H. Verónica; Chertkoff, Lilien Patricia; Obregon, M. Gabriela (Wiley, 2014-04)

We describe a 16-month-old male with N540K homozygous mutation in the FGFR3 gene who showed a more severe phenotype than hypochondroplasia (HCH). To our knowledge, a homozygous state for this mutation causing HCH has not ...

Mutaciones del gen del receptor 3 del Factor de Crecimiento de Fibroblasto (FGFR3) en pacientes chilenos con talla baja idiopática, hipocondroplasia y acondroplasia

Mancilla V,Edna E; Poggi M,Helena; Repetto L,Gabriela; García B,Cristian; Foradori C,Arnaldo; Cattani O,Andreina (Sociedad Médica de Santiago, 2003)

Frequency Of The Allelic Variant C.1150t > C In Exon 10 Of The Fibroblast Growth Factor Receptor 3 (fgfr3) Gene Is Not Increased In Patients With Pathogenic Mutations And Related Chondrodysplasia Phenotypes.

Kanazawa, Thatiane Yoshie; Bonadia, Luciana Cardoso; Cavalcanti, Denise Pontes (2014)

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

Gomes, Maria E. S.; Kanazawa, Thatiane Y.; Riba, Fernanda R.; Pereira, Natálya Gonçalves; Zuma, Maria C. C.; Rabelo, Natana C.; Sanseverino, Maria T.; Horovitz, Dafne Dain Gandelman; Llerena Junior, Juan Clinton; Cavalcanti, Denise P.; Gonzalez, Sayonara (2019)

Frequency Of The Allelic Variant C.1150t > C In Exon 10 Of The Fibroblast Growth Factor Receptor 3 (fgfr3) Gene Is Not Increased In Patients With Pathogenic Mutations And Related Chondrodysplasia Phenotypes

Kanazawa T.Y.; Bonadia L.C.; Cavalcanti D.P. (Brazilian Journal of Genetics, 2014)

Novas contribuições sobre a correlação genótipo-fenótipo do grupo FGFR3 a partir do estudo de uma coorte de pacientes com fenótipo típico ou sugestivoNew contributions about the genotype-phenotype correlation of the FGFR3 group from the study of a cohort of patients with typical or suggestive phenotype

Kanazawa, Thatiane Yoshie, 1988- ([s.n.], 2014)

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Homozygous N540K hypochondroplasia-First report: Radiological and clinical features

Mutaciones del gen del receptor 3 del Factor de Crecimiento de Fibroblasto (FGFR3) en pacientes chilenos con talla baja idiopática, hipocondroplasia y acondroplasia

Frequency Of The Allelic Variant C.1150t > C In Exon 10 Of The Fibroblast Growth Factor Receptor 3 (fgfr3) Gene Is Not Increased In Patients With Pathogenic Mutations And Related Chondrodysplasia Phenotypes.

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

Frequency Of The Allelic Variant C.1150t > C In Exon 10 Of The Fibroblast Growth Factor Receptor 3 (fgfr3) Gene Is Not Increased In Patients With Pathogenic Mutations And Related Chondrodysplasia Phenotypes

Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

Estudio molecular de pacientes colombianos afectados por enanismo esencial

Clinical Epidemiology Of Skeletal Dysplasias In South America

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Homozygous N540K hypochondroplasia-First report: Radiological and clinical features

Mutaciones del gen del receptor 3 del Factor de Crecimiento de Fibroblasto (FGFR3) en pacientes chilenos con talla baja idiopática, hipocondroplasia y acondroplasia

Frequency Of The Allelic Variant C.1150t > C In Exon 10 Of The Fibroblast Growth Factor Receptor 3 (fgfr3) Gene Is Not Increased In Patients With Pathogenic Mutations And Related Chondrodysplasia Phenotypes.

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

Frequency Of The Allelic Variant C.1150t > C In Exon 10 Of The Fibroblast Growth Factor Receptor 3 (fgfr3) Gene Is Not Increased In Patients With Pathogenic Mutations And Related Chondrodysplasia Phenotypes

Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

Estudio molecular de pacientes colombianos afectados por enanismo esencial

Clinical Epidemiology Of Skeletal Dysplasias In South America