S. C. A. L. Souza

Statistics

Publications

Citations

213

H-Index

Active since

2002

Affiliations

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo(Current)

S. C. A. L. Souza is an author at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo specializing in human genetics, medical genetics, and genetic disorders.

Publications per year

2002–2010

Publications

<i>SHOX</i> mutations in idiopathic short stature and Leri‐Weill dyschondrosteosis: frequency and phenotypic variability

Alexander A.L. Jorge, S. C. A. L. Souza, Mirian Yumie Nishi et al. · Clinical Endocrinology · 2006 · 110 citations

Life Sciences, Genetics, Molecular Genetics +15

Poor Reproducibility of IGF-I and IGF Binding Protein-3 Generation Test in Children with Short Stature and Normal Coding Region of the GH Receptor Gene

Alexander A.L. Jorge, S. C. A. L. Souza, Ivo J.P. Arnhold et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 37 citations · Full text

Medicine, Endocrinology, Pediatrics +16

Usefulness of MLPA in the detection of SHOX deletions

Mariana F.A. Funari, Alexander A.L. Jorge, S. C. A. L. Souza et al. · European Journal of Medical Genetics · 2010 · 29 citations

Life Sciences, Genetics, Molecular Genetics +14

The first homozygous mutation (S226I) in the highly‐conserved WSXWS‐like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration

Alexander A.L. Jorge, S. C. A. L. Souza, Ivo J.P. Arnhold et al. · Clinical Endocrinology · 2003 · 25 citations

Medicine, Endocrinology, Genetics +17

Analysis of the <i>PTPN11</i> gene in idiopathic short stature children and Noonan syndrome patients

Lize Vargas Ferreira, S. C. A. L. Souza, Luciana Ribeiro Montenegro et al. · Clinical Endocrinology · 2008 · 12 citations

Life Sciences, Genetics, Pediatrics +9

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