Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.

Autor: Karlsson L; Department of Women's and Children's Health, Karolinska Institutet, Pediatric Endocrinology Unit (Q2:08), Karolinska University Hospital, Stockholm, Sweden., de Paula Michelatto D; Department of Women's and Children's Health, Karolinska Institutet, Pediatric Endocrinology Unit (Q2:08), Karolinska University Hospital, Stockholm, Sweden; Laboratório de Genética Molecular Humana, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil., Lusa ALG; Laboratório de Genética Molecular Humana, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil., D'Almeida Mgnani Silva C; Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., Östberg LJ; Science for Life Laboratory and eSSENCE, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Persson B; Science for Life Laboratory, Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden., Guerra-Júnior G; Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., Valente de Lemos-Marini SH; Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brazil., Baldazzi L; Department of Woman, Child and Urological Diseases, Centre for Rare Endocrine Conditions (CARENDO BO; Endo-ERN), S.Orsola-Malpighi University Hospital, Bologna, Italy., Menabó S; Department of Woman, Child and Urological Diseases, Centre for Rare Endocrine Conditions (CARENDO BO; Endo-ERN), S.Orsola-Malpighi University Hospital, Bologna, Italy., Balsamo A; Department of Woman, Child and Urological Diseases, Centre for Rare Endocrine Conditions (CARENDO BO; Endo-ERN), S.Orsola-Malpighi University Hospital, Bologna, Italy., Greggio NA; Department of Women's and Children's Health of Padua, Pediatric Endocrinology Unit, Italy., Palandi de Mello M; Laboratório de Genética Molecular Humana, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Campinas, SP, Brazil., Barbaro M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Center for Inherited Metabolic Diseases (CMMS L7:05), Karolinska University Hospital, Stockholm, Sweden., Lajic S; Department of Women's and Children's Health, Karolinska Institutet, Pediatric Endocrinology Unit (Q2:08), Karolinska University Hospital, Stockholm, Sweden. Electronic address: Svetlana.Lajic@ki.se.

Publikováno v: Clinical biochemistry [Clin Biochem] 2019 Nov; Vol. 73, pp. 50-56. Date of Electronic Publication: 2019 Jul 22.

A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins.

Autor: Esquiaveto-Aun AM; Department of Pediatrics, School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, SP Brazil ; Center of Molecular Biology and Genetic Engineering (CBMEG), UNICAMP, Campinas, Brazil ; Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, Brazil., De Mello MP; Center of Molecular Biology and Genetic Engineering (CBMEG), UNICAMP, Campinas, Brazil., Paulino MF; Department of Pediatrics, School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, SP Brazil., Minicucci WJ; Division of Endocrinology, Department of Clinical Medicine, FCM, UNICAMP, Campinas, Brazil., Guerra-Júnior G; Department of Pediatrics, School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, SP Brazil ; Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, Brazil., De Lemos-Marini SH; Department of Pediatrics, School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, SP Brazil ; Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Campinas, Brazil.

Publikováno v: Diabetology & metabolic syndrome [Diabetol Metab Syndr] 2015 Nov 18; Vol. 7, pp. 101. Date of Electronic Publication: 2015 Nov 18 (Print Publication: 2015).

Growth curves for girls with Turner syndrome.

Autor: Bertapelli F; Growth and Development Lab, Center for Investigation in Pediatrics (CIPED), School of Medicine, State University of Campinas (UNICAMP), 13083-887 Campinas, SP, Brazil., Barros-Filho Ade A; Department of Pediatrics, School of Medicine, State University of Campinas (UNICAMP), 13083-887 Campinas, SP, Brazil., Antonio MÂ; Department of Pediatrics, School of Medicine, State University of Campinas (UNICAMP), 13083-887 Campinas, SP, Brazil., Barbeta CJ; Growth and Development Lab, Center for Investigation in Pediatrics (CIPED), School of Medicine, State University of Campinas (UNICAMP), 13083-887 Campinas, SP, Brazil., de Lemos-Marini SH; Department of Pediatrics, School of Medicine, State University of Campinas (UNICAMP), 13083-887 Campinas, SP, Brazil., Guerra-Junior G; Growth and Development Lab, Center for Investigation in Pediatrics (CIPED), School of Medicine, State University of Campinas (UNICAMP), 13083-887 Campinas, SP, Brazil.

Publikováno v: BioMed research international [Biomed Res Int] 2014; Vol. 2014, pp. 687978. Date of Electronic Publication: 2014 May 15.

Growth hormone effect on body composition in Turner syndrome.

Autor: Baldin AD; Pediatric Endocrinology Unit, Department of Pediatrics and Center for Investigation in Pediatrics, Faculty of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, SP, 13083-970, Brazil., Fabbri T, Siviero-Miachon AA, Spinola-Castro AM, de Lemos-Marini SH, Baptista MT, D'Souza-Li LF, Maciel-Guerra AT, Guerra-Junior G

Publikováno v: Endocrine [Endocrine] 2011 Dec; Vol. 40 (3), pp. 486-91. Date of Electronic Publication: 2011 Jul 01.

Impairment in anthropometric parameters and body composition in females with classical 21-hydroxylase deficiency.

Autor: Gonçalves EM; Department of Pediatrics, Faculty of Medical Sciences, University of Campinas, Brazil., de Lemos-Marini SH, de Mello MP, Baptista MT, D'Souza-Li LF, Baldin AD, Carvalho WR, Farias ES, Guerra-Junior G

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2009 Jun; Vol. 22 (6), pp. 519-29.