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Heloísa G. dos Santos

Instituto de Medicina Molecular

11

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Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

2013 American Journal of Human Genetics
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Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

2011 Journal of Medical Genetics
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An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy

2010 The Journal of Clinical Endocrinology and Metabolism
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PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

2010 American Journal of Human Genetics
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Muenke syndrome with osteochondroma.

2009 American Journal of Medical Genetics Part A
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Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS (American Journal of Medical Genetic (2007) 143A, (355-359) DOI: 10.002/ajmg.a.31556))

2008 American Journal of Medical Genetics Part A
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Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS

2007 American Journal of Medical Genetics Part A
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Phenotypic Heterogeneity in Body Fat Distribution in Patients with Atypical Werner’s Syndrome Due to Heterozygous Arg133Leu Lamin A/C Mutation

2005 The Journal of Clinical Endocrinology and Metabolism
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LMNA mutations in atypical Werner's syndrome

2003 The Lancet
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Brachydactyly Type B: Linkage to Chromosome 9q22 and Evidence for Genetic Heterogeneity

1999 American Journal of Human Genetics
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