Source: Molecular Cancer, Vol 20, Iss 1, Pp 1-19 (2021)Molecular CancerRepositório Científico de Acesso Aberto de PortugalRepositório Científico de Acesso Aberto de Portugal (RCAAP)

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A de novo paradigm for male infertility

Authors : Oud, M.S.; Smits, R.M.; Smith, H.E. ...

Subjects: Male; Chemistry(all); Gene Expression

Source: Repositório Científico de Acesso Aberto de PortugalRepositório Científico de Acesso Aberto de Portugal (RCAAP)instacron:RCAAPNature Communications, 13Dipòsit Digital de

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Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia

Authors : James M. Hotaling; Steven E. Boyden; Frank Tüttelmann

Subjects: Adult; Male; Heterozygote

Source: Hum GenetHUMAN GENETICSr-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pauinstname

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Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

Authors : Alice Brinckmann Oliveira Netto; Ana Carolina Brusius-Facchin; Sandra Leistner-Segal

Subjects: IDS gene; QH301-705.5; Genetic counseling

Source: Frontiers in Molecular BiosciencesRepositório Institucional da UFRGSUniversidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSFrontiers in Molecular Biosciences, Vol 8

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A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)

Authors : Joana Rosa; Juan Gonçalves; Paula Pacheco

Subjects: medicine.medical_specialty; Pediatrics; Cystic Fibrosis

Source: BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)BMC Pediatrics

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Iron‐sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3‐methylglutaconic aciduria

Authors : Aureliano Dias; Anabela Bandeira; Esmeralda Martins

Subjects: medicine.medical_specialty; Mitochondrial Diseases; lcsh:QH426-470

Source: JIMD Reports, Vol 49, Iss 1, Pp 11-16 (2019)JIMD Reports

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Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort

Authors : Alberto Barros; Olga López-Rodrigo; Francisco J. Barrionuevo

Subjects: Male; Urology; Endocrinology, Diabetes and Metabolism

Source: Andrologyr-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant PauInstituto de Salud Carlos III (ISCIII)Repositório

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Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure

Authors : Hardy, Jimmaline J.; Wyrwoll, Margot J.; Mcfadden, William

Subjects: Male; Models, Molecular; Protein Conformation, alpha-Helical

Source: Hum GenetHuman Genetics, 140, 8, pp. 1169-1182Repositório Científico de Acesso Aberto de PortugalRepositório Científico de Acesso Aberto de Portugal (RCAAP)

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Deep Brain Stimulation in Patients with Isolated Generalized Dystonia Caused by PRKRA Mutation

Authors : Daniel Boari Coelho; Clarice Listik; Luis Augusto Teixeira

Subjects: DOENÇAS GENÉTICAS; Dystonia; Pathology

Source: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)Universidade de São Paulo (USP)instacron:USPMov Disord Clin Pract

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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders

Authors : Clara Sá Miranda; Lies H. Hoefsloot; Karin Naess ...

Subjects: Male; Genetic testing; Mucopolysaccharidosis I

Source: European Journal of Human GeneticsEuropean Journal of Human Genetics, 27(6), 919-927. Nature Publishing Group

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