Výsledky vyhledávání - "MESH: Heart Defects, Congenital"

Heart Development and Congenital Structural Heart Defects

Autor: Lucile Houyel, Sigolène M. Meilhac

Publikováno v: Annual Review of Genomics and Human Genetics
Annual Review of Genomics and Human Genetics, 2021, 22, pp.257-284. ⟨10.1146/annurev-genom-083118-015012⟩

International audience; Congenital heart disease is the most frequent birth defect and the leading cause of death for the fetus and in the first year of life. The wide phenotypic diversity of congenital heart defects requires expert diagnosis and sop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42a5f5d9a4e18d8195da4de35057ed97
https://hal-pasteur.archives-ouvertes.fr/pasteur-03851121

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Prise en charge dentaire d’un enfant atteint d’une malformation cardiaque congénitale cyanogène complexe : problématiques anesthésiques

Autor: Cochennec, Laure

Publikováno v: Sciences du Vivant [q-bio]. 2020

Les cardiopathies congénitales cyanogènes sont les pathologies cardiaques les plus fréquemment retrouvées à la naissance (1,5 pour 1000), celles-ci peuvent présenter de nombreuses difficultés pour une prise en charge dentaire, tant au niveau d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2592::5a3b0f2fc796f92b17a9f5551acd28df
https://dumas.ccsd.cnrs.fr/dumas-03116744/file/Dentaire_Cochennec_Laure_DUMAS.pdf

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Standardised imaging pipeline for phenotyping mouse laterality defects and associated heart malformations, at multiple scales and multiple stages

Autor: Audrey Desgrange, Carmen Marchiol, Sigolène M. Meilhac, Johanna Lokmer, Lucile Houyel

Publikováno v: Disease Models & Mechanisms
Disease Models & Mechanisms, Cambridge Company of Biologists, 2019, 12 (7), pp.dmm038356. ⟨10.1242/dmm.038356⟩
Disease Models & Mechanisms, 2019, 12 (7), pp.dmm038356. ⟨10.1242/dmm.038356⟩
Disease Models & Mechanisms, Vol 12, Iss 7 (2019)

Laterality defects are developmental disorders resulting from aberrant left/right patterning. In the most severe cases, such as in heterotaxy, they are associated with complex malformations of the heart. Advances in understanding the underlying physi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2612d3c30d97b95b9a5196e61c7c09f7

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The deployment of cell lineages that form the mammalian heart

Autor: Margaret Buckingham, Sigolène M. Meilhac

Publikováno v: Nature Reviews Cardiology
Nature Reviews Cardiology, 2018, 15 (11), pp.705-724. ⟨10.1038/s41569-018-0086-9⟩

The function of the mammalian heart depends on the interplay between different cardiac cell types. The deployment of these cells, with precise spatiotemporal regulation, is also important during development to establish the heart structure. In this R

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5201a5bac3eef64fc0870d95afc2a71e
https://pubmed.ncbi.nlm.nih.gov/30266935

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Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Publikováno v: European Journal of Human Genetics, 25(1), 43-51. Nature Publishing Group
European Journal of Human Genetics, 25, 43-51
European journal of human genetics: EJHG
European journal of human genetics: EJHG, Nature, 2016, 25 (1), pp.43-51. 〈http://www.nature.com/ejhg/index.html〉. 〈10.1038/ejhg.2016.133〉
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
European journal of human genetics
European Journal of Human Genetics, 25, 1, pp. 43-51

Item does not contain fulltext Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be171334f26bc8f01ed43d594d5f8c5
https://research.rug.nl/en/publications/daa8a5f7-967c-43ac-87f6-c19664c6accc

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Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature

Autor: Edouard Cottereau, Annick Toutain, Estelle Colin, Marie-Pierre Moizard, Martine Raynaud, Sandrine Vonwill, Sylvie Rossignol, Fabienne Giuliano, Udhaya Kotecha, Tiffany Busa, Marie-Laure Vuillaume, Marion Gérard, Jean-Luc Alessandri, Frédéric Brioude, Mathilde Lefevre, Laetitia Lambert, Irène Netchine, Sheela Nampoothiri

Publikováno v: Human Mutation
Human Mutation, 2018, 39 (6), pp.790-805. ⟨10.1002/humu.23428⟩
Human Mutation, Wiley, 2018, 39 (6), pp.790-805. ⟨10.1002/humu.23428⟩

International audience; Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked multiple congenital anomalies and overgrowth syndrome caused by a defect in the glypican-3 gene (GPC3). Until now, GPC3 mutations have been reported in isolated cases or sma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d58b5bc5083f247eb0397c4698851db
https://doi.org/10.1002/humu.23428

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New developments in the second heart field

Autor: Robert G. Kelly, Stéphane Zaffran

Publikováno v: Differentiation
Differentiation, Elsevier, 2012, 84 (1), pp.17-24. ⟨10.1016/j.diff.2012.03.003⟩
Differentiation; Vol 84
Differentiation, 2012, 84 (1), pp.17-24. ⟨10.1016/j.diff.2012.03.003⟩

International audience; During cardiac looping the heart tube elongates by addition of progenitor cells from adjacent pharyngeal mesoderm to the arterial and venous poles. This cell population, termed the second heart field, was first identified ten

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Clinical and socioeconomic predictors of pregnancy termination for fetuses with congenital heart defects: a population-based evaluation.: Pregnancy termination for fetuses with CHD

Autor: Nathalie Lelong, Anne-Claire Thieulin, François Goffinet, Thi Thanh Thao Bui, Babak Khoshnood, Karim Tararbit

Publikováno v: Prenatal Diagnosis
Prenatal Diagnosis, 2013, 33 (2), pp.179-86. ⟨10.1002/pd.4043⟩
Prenatal Diagnosis, Wiley, 2013, 33 (2), pp.179-86. ⟨10.1002/pd.4043⟩
Prenatal Diagnosis, Wiley, 2013, 33 (2), pp.179-86. 〈10.1002/pd.4043〉

International audience; OBJECTIVES: This study aims to (1) evaluate the probability and timing of termination of pregnancy for fetal anomaly (TOPFA) for all congenital heart defects (CHD) and categories of CHD and (2) assess clinical and socioeconomi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0ff3fecfad99307efe69727c5f45ef2
https://www.hal.inserm.fr/inserm-00912708/file/Clinical_and_socioeconomic.pdf

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The risk for four specific congenital heart defects associated with assisted reproductive techniques: a population-based evaluation.: Assisted reproduction and congenital heart defects

Autor: Babak Khoshnood, François Goffinet, Lucile Houyel, Karim Tararbit, Anne-Claire Thieulin, Nathalie Lelong, Damien Bonnet

Publikováno v: Human Reproduction
Human Reproduction, Oxford University Press (OUP), 2013, 28 (2), pp.367-74. 〈10.1093/humrep/des400〉
Human Reproduction, Oxford University Press (OUP), 2013, 28 (2), pp.367-74. ⟨10.1093/humrep/des400⟩
Human Reproduction, 2013, 28 (2), pp.367-74. ⟨10.1093/humrep/des400⟩

International audience; STUDY QUESTION: Are the risks of hypoplastic left heart syndrome, transposition of great arteries, tetralogy of Fallot (TOF) and coarctation of the aorta increased in infants conceived by different assisted reproductive techni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a0f194a6b6dbc2ffee2b17860f65841
http://www.hal.inserm.fr/inserm-00912695

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