Search Results - "David, Véronique"
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Pharmacogenetic-Whole blood and intracellular pharmacokinetic-Pharmacodynamic (PG-PK2-PD) relationship of tacrolimus in liver transplant recipients
Published in PloS one (12-03-2020)“…Tacrolimus (TAC) is the cornerstone of immunosuppressive therapy in liver transplantation. This study aimed at elucidating the interplay between…”
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Recent advances in understanding inheritance of holoprosencephaly
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-06-2018)“…Holoprosencephaly (HPE) is a complex genetic disorder of the developing forebrain characterized by high phenotypic and genetic heterogeneity. HPE was initially…”
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GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome
Published in Clinical genetics (01-08-2020)“…Congenital uterine anomalies (CUA) may have major impacts on the health and social well‐being of affected individuals. Their expressivity is variable, with the…”
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Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency
Published in The journal of clinical endocrinology and metabolism (01-09-2020)“…In human, Sonic hedgehog (SHH) haploinsufficiency is the predominant cause of holoprosencephaly, a structural malformation of the forebrain midline…”
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Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
Published in Journal of medical genetics (29-08-2024)“…Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ( )-overgrowth syndrome (DOS), was first described by…”
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Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders
Published in Human genetics (01-04-2019)“…Neural tube defect disorders are developmental diseases that originate from an incomplete closure of the neural tube during embryogenesis. Despite high…”
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Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings
Published in PloS one (06-02-2015)“…Holoprosencephaly (HPE) is a frequent congenital malformation of the brain characterized by impaired forebrain cleavage and midline facial anomalies…”
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A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity
Published in Scientific reports (11-07-2018)“…ZIC2 mutation is known to cause holoprosencephaly (HPE). A subset of ZIC2 HPE probands harbour cardiovascular and visceral anomalies suggestive of laterality…”
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NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos
Published in Disease models & mechanisms (01-03-2013)“…Holoprosencephaly (HPE) is a common congenital defect that results from failed or incomplete forebrain cleavage. HPE is characterized by a wide clinical…”
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Effects of combined physical and cognitive program performed in socially enriched environment on older people’s cognitive abilities and quality of life (StimCoAPS): study protocol for a randomized controlled trial
Published in BMJ Open Sport & Exercise Medicine (01-10-2023)“…The number of older people worldwide is constantly increasing. However, ageing is accompanied by a decline in cognitive ability that can affect quality of…”
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Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations
Published in Human mutation (01-07-2004)“…Holoprosencephaly (HPE; 1 out of 16,000 live births; 1 out of 250 conceptuses) is a complex brain malformation resulting from incomplete cleavage of the…”
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Insulin resistance–associated hepatic iron overload
Published in Gastroenterology (New York, N.Y. 1943) (01-11-1999)“…Background & Aims: Hepatic iron overload has been reported in various metabolic conditions, including the insulin-resistance syndrome (IRS) and nonalcoholic…”
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La verrière « Aux Morts de la Guerre » de Maurice Denis (1920-1925), de Paris à Montréal
Published in In situ (Paris) (05-12-2014)“…After the First World War, monuments designed to commemorate its victims were prevalent in a wide variety of artistic fields, both civil and religious. At the…”
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Castro et le défi du vitrail
Published in In situ (Paris) (03-11-2009)“…This article is based on the study of a commission for stained glass by the Museum of Saint-Lô (Manche), awarded to Sergio de Castro in 2008. The article takes…”
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Holoprosencephaly due to mutations in ZIC2 : alanine tract expansion mutations may be caused by parental somatic recombination
Published in Human molecular genetics (01-04-2001)“…We report on the prevalence of mutations in the zinc finger transcription factor gene, ZIC2, in a group of 509 unrelated individuals with isolated…”
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Phenotypic expression in detected C282Y homozygous women depends on body mass index
Published in Journal of hepatology (01-12-2005)“…In HFE-related haemochromatosis, a large proportion of C282Y homozygotes, especially women, are not detected by phenotypic screening using transferrin…”
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Holoprosencephaly
Published in Orphanet journal of rare diseases (02-02-2007)“…Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day…”
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Mechanism of Intrinsic Resistance to Vancomycin in Clostridium innocuum NCIB 10674
Published in Journal of Bacteriology (01-06-2004)“…Article Usage Stats Services JB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Marguerite Huré, précurseur de l’abstraction dans le vitrail religieux
Published in In situ (Paris) (23-04-2012)“…Figure 1 Marguerite Huré Phot. Inv. P. Fortin © Inventaire général, ADAGP, 1998 Figure 2 Epinay–sur–Seine, église Notre–Dame des Missions. Vue de la façade…”
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