Výsledky vyhledávání - "Wolfanga L, Boson"

Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome

Autor: Debora M, Miranda, Bernardo L, Wajchenberg, Maria R, Calsolari, Marcos J, Aguiar, José M C L, Silva, Marcia G, Ribeiro, Cristina, Fonseca, Daniela, Amaral, Wolfanga L, Boson, Bruna A, Resende, Luiz, De Marco

Publikováno v: Clinical endocrinology. 71(4)

Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome, is a rare autosomal recessive disease caused by mutations in either the BSCL2 or AGPAT2 genes. This syndrome is characterized by an almost complete loss of adipose tissue usually di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e362b56436147a8744155c28a24f45a9
https://pubmed.ncbi.nlm.nih.gov/19226263

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A signal peptide mutation of the arginine vasopressin gene in monozygotic twins

Autor: Wolfanga L, Boson, Juliana C, Sarubi, Catarina B, d'Alva, Eitan, Friedman, Daniela, Faria, Luiz, De Marco, Bernardo, Wajchenberg

Publikováno v: Clinical endocrinology. 58(1)

Familial neurohypophysial diabetes insipidus (FNDI) is a rare autosomal dominant syndrome stemming from the absence of arginine vasopressin (AVP). More than thirty-five different germline mutations in the arginine vasopressin-neurophysin II gene have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3851fb7eb2ef7ba360473c0548b4f33a
https://pubmed.ncbi.nlm.nih.gov/12519420

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