Suchergebnisse - "Megarbane, Andre"

PubPharm (10)

1

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von van Jaarsveld, R. | Reilly, J. | Cornips, M. | +56

2

DNA methylation signatures in Blood DNA of Hutchinson-Gilford Progeria syndrome

enthalten in: Aging cell | 2022

von Bejaoui, Y. | Razzaq, A. | Yousri, N. | +10

CommentIn: Aging (Albany NY). 2023 Aug 5;15(15):7336-7337. - PMID 37552095

3

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome : one clinical entity?

enthalten in: BMC medical genetics | 2016

von Mégarbané, A. | Al-Ali, R. | Choucair, N. | +16

4

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

enthalten in: Orphanet journal of rare diseases | 2014

von Velasco, G. | Walton, E. | Sterlin, D. | +8

5

A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome

enthalten in: Ophthalmic genetics | 2011

von Akoury, E. | El Zir, E. | Mansour, A. | +3

6

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

enthalten in: Journal of medical genetics | 2010

von Posch, M. | Gramlich, M. | Sunde, M. | +14

7

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups

enthalten in: Molecular immunology | 2008

von Jiao, H. | Tóth, B. | Erdos, M. | +15

8

Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia : the odonto-onycho-dermal dysplasia

enthalten in: American journal of human genetics | 2007

von Adaimy, L. | Chouery, E. | Megarbane, H. | +6

9

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase

enthalten in: Journal of cell science | 2006

von Luciani, J. | Depetris, D. | Usson, Y. | +9

10

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

enthalten in: Nature genetics | 2003

von McGregor, L. | Makela, V. | Darling, S. | +22

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