Publications by authors named "Ana Grangeia"

11Publications

Wiedemann-Steiner syndrome in two patients from Portugal.

Am J Med Genet A 2020 01 11;182(1):25-28. Epub 2019 Nov 11.

Department of Medical Genetics, São João Hospital Center, Porto, Portugal.

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January 2020

Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism.

J Pediatr Endocrinol Metab 2019 Nov;32(11):1265-1273

Department of Pediatrics, Pediatric Endocrinology Unit, Centro Hospitalar S. João, Alameda Prof. Hernâni Monteiro, Porto, Portugal.

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November 2019

Immunohystochemical analysis of CFTR in normal and disrupted spermatogenesis.

Syst Biol Reprod Med 2013 Feb 18;59(1):53-9. Epub 2012 Sep 18.

Department of Microscopy, Laboratory of Cell Biology, UMIB, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Porto, Portugal.

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February 2013

Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.

Fertil Steril 2010 Nov 25;94(6):2122-7. Epub 2010 Jan 25.

Department of Medicine and Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.

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November 2010

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.

Hum Reprod 2004 Nov 27;19(11):2502-8. Epub 2004 Aug 27.

Department of Genetics, Faculty of Medicine, Laboratory of Cell Biology, ICBAS, University of Porto, Centre for Reproductive Genetics Alberto Barros, Porto, Portugal.

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November 2004