uniparental disomy

نتایج جستجو برای: uniparental disomy

تعداد نتایج: 1450 فیلتر نتایج به سال:

Uniparental Disomy as a Novel Mechanism for Surfactant Protein B (SP-B) Deficiency

Journal: :Pediatric Research 1999

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Uniparental disomy as a mechanism for CERS 3 ‐mutated autosomal recessive congenital ichthyosis

Journal: :British Journal of Dermatology 2018

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Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism

Journal: :International Journal of Pediatric Endocrinology 2020

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Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome

2016

Marta Bueno Susanna Esteba-Castillo Ramon Novell Olga Giménez-Palop Ramon Coronas Elisabeth Gabau Raquel Corripio Neus Baena Marina Viñas-Jornet Míriam Guitart David Torrents-Rodas Joan Deus Jesús Pujol Mercedes Rigla Assumpta Caixàs

CONTEXT Prader-Willi syndrome (PWS) is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF) and leptin are reciprocally involved in energy homeostasis. OBJECTIVES To analyze the role of BDNF and leptin in satiety in genetic subtypes of PWS. DESIGN Experimental study. SETTING University hospital. SUBJECTS 90 adults: 30 PWS patients; 30 age-sex-BMI-matched obese c...

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Differential regulation of imprinting in the murine embryo and placenta by the Dlk1-Dio3 imprinting control region.

Journal: :Development 2007

Shau-Ping Lin Phil Coan Simao Teixeira da Rocha Herve Seitz Jerome Cavaille Pi-Wen Teng Shuji Takada Anne C Ferguson-Smith

Genomic imprinting is an epigenetic mechanism controlling parental-origin-specific gene expression. Perturbing the parental origin of the distal portion of mouse chromosome 12 causes alterations in the dosage of imprinted genes resulting in embryonic lethality and developmental abnormalities of both embryo and placenta. A 1 Mb imprinted domain identified on distal chromosome 12 contains three p...

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