Mégarbané A - Search Results

1

Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation.

Haertle L, Müller T, Lardenoije R, Maierhofer A, Dittrich M, Riemens RJM, Stora S, Roche M, Leber M, Riedel-Heller S, Wagner M, Scherer M, Ravel A, Mircher C, Cieuta-Walti C, Durand S, van de Hove DLA, Hoffmann P, Ramirez A, Haaf T, El Hajj N, Mégarbané A. Haertle L, et al. Among authors: megarbane a. Clin Epigenetics. 2019 Dec 16;11(1):195. doi: 10.1186/s13148-019-0787-x. Clin Epigenetics. 2019. PMID: 31843015 Free PMC article.

2

[Amino acids and trisomy 21].

Lejeune J, Rethoré MO, de Blois MC, Peeters M, Naffah J, Megarbane A, Cattaneo F, Mircher C, Rabier D, Parvy P, et al. Lejeune J, et al. Among authors: megarbane a. Ann Genet. 1992;35(1):8-13. Ann Genet. 1992. PMID: 1535189 French.

3

A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.

Stora S, Conte M, Chouery E, Richa S, Jalkh N, Gillart AC, Joannis AL, Mégarbané A. Stora S, et al. Among authors: megarbane a. Eur J Med Genet. 2009 Sep-Oct;52(5):341-3. doi: 10.1016/j.ejmg.2009.06.005. Epub 2009 Jul 3. Eur J Med Genet. 2009. PMID: 19577669

4

The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome.

Mégarbané A, Ravel A, Mircher C, Sturtz F, Grattau Y, Rethoré MO, Delabar JM, Mobley WC. Mégarbané A, et al. Genet Med. 2009 Sep;11(9):611-6. doi: 10.1097/GIM.0b013e3181b2e34c. Genet Med. 2009. PMID: 19636252 Free article. Review.

5

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A. Ravel A, et al. Among authors: megarbane a. Am J Med Genet A. 2011 Apr;155A(4):880-4. doi: 10.1002/ajmg.a.33879. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416592

6

The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.

Mégarbané A, Noguier F, Stora S, Manchon L, Mircher C, Bruno R, Dorison N, Pierrat F, Rethoré MO, Trentin B, Ravel A, Morent M, Lefranc G, Piquemal D. Mégarbané A, et al. Eur J Hum Genet. 2013 Nov;21(11):1253-9. doi: 10.1038/ejhg.2013.24. Epub 2013 Feb 20. Eur J Hum Genet. 2013. PMID: 23422941 Free PMC article.

7

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE. Sailani MR, et al. Among authors: megarbane a. Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19. Genome Res. 2013. PMID: 23783273 Free PMC article.

8

Homozygous mutation in ELMO2 may cause Ramon syndrome.

Mehawej C, Hoischen A, Farah RA, Marey I, David M, Stora S, Lachlan K, Brunner HG, Mégarbané A. Mehawej C, et al. Among authors: megarbane a. Clin Genet. 2018 Mar;93(3):703-706. doi: 10.1111/cge.13166. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29095483

9

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).

Mégarbané A, Hmaimess G, Bizzari S, El-Bazzal L, Al-Ali MT, Stora S, Delague V, El-Hayek S. Mégarbané A, et al. Eur J Med Genet. 2019 Nov;62(11):103576. doi: 10.1016/j.ejmg.2018.11.010. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423442

10

COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

Nair P, Lama M, El-Hayek S, Abou Sleymane G, Stora S, Obeid M, Al-Ali MT, Delague V, Mégarbané A. Nair P, et al. Among authors: megarbane a. Mol Syndromol. 2019 Jan;9(6):319-323. doi: 10.1159/000494465. Epub 2018 Nov 9. Mol Syndromol. 2019. PMID: 30800049 Free PMC article.

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