Verloes A - Search Results

1

Infantile systemic hyalinosis: a report of two new cases, one with prolonged survival.

Elenga N, Chenel C, Besnard M, Pasche J, Darteyre S, Gatti H, De Barthez MP, Yang F, Verloes A. Elenga N, et al. Among authors: verloes a. Eur J Dermatol. 2017 Jun 1;27(3):328-329. doi: 10.1684/ejd.2017.3007. Eur J Dermatol. 2017. PMID: 28524048 No abstract available.

2

Down syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome.

Vial Y, Lachenaud J, Verloes A, Besnard M, Fenneteau O, Lainey E, Marceau-Renaut A, Preudhomme C, Baruchel A, Cavé H, Drunat S. Vial Y, et al. Among authors: verloes a. Haematologica. 2018 Jun;103(6):e274-e276. doi: 10.3324/haematol.2017.178590. Epub 2017 Dec 7. Haematologica. 2018. PMID: 29217785 Free PMC article. No abstract available.

3

INTU-related oral-facial-digital syndrome type VI: A confirmatory report.

Bruel AL, Levy J, Elenga N, Defo A, Favre A, Lucron H, Capri Y, Perrin L, Passemard S, Vial Y, Tabet AC, Faivre L, Thauvin-Robinet C, Verloes A. Bruel AL, et al. Among authors: verloes a. Clin Genet. 2018 Jun;93(6):1205-1209. doi: 10.1111/cge.13238. Epub 2018 Apr 6. Clin Genet. 2018. PMID: 29451301

4

Incidence of infantile Pompe disease in the Maroon population of French Guiana.

Elenga N, Verloes A, Mrsic Y, Basurko C, Schaub R, Cuadro-Alvarez E, Kom-Tchameni R, Carles G, Lambert V, Boukhari R, Fahrasmane A, Jolivet A, Nacher M, Benoist JF. Elenga N, et al. Among authors: verloes a. BMJ Paediatr Open. 2018 Jan 9;2(1):e000182. doi: 10.1136/bmjpo-2017-000182. eCollection 2018. BMJ Paediatr Open. 2018. PMID: 29637184 Free PMC article.

5

Developmental and epileptic encephalopathy related to a heterozygous variant of the RHOBTB2 gene: A case report from French Guiana.

Defo A, Verloes A, Elenga N. Defo A, et al. Among authors: verloes a. Mol Genet Genomic Med. 2022 Jun;10(6):e1929. doi: 10.1002/mgg3.1929. Epub 2022 Mar 21. Mol Genet Genomic Med. 2022. PMID: 35315256 Free PMC article.

6

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Verloes A, et al. Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. Am J Med Genet A. 2006. PMID: 16700052

We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a …

We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current noso …

7

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.

Poirsier-Violle C, Abourra A, Baumann C, Perrin L, Capri Y, Mignot C, Passemard S, Drunat S, Verloes A. Poirsier-Violle C, et al. Among authors: verloes a. Eur J Med Genet. 2013 Apr;56(4):226-8. doi: 10.1016/j.ejmg.2012.12.005. Epub 2013 Jan 19. Eur J Med Genet. 2013. PMID: 23337768

8

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

Hadchouel A, Bellaiche M, Baumann C, Darnaud G, El Ghoneimi A, Ferkdadji L, Elmaleh M, Verloes A. Hadchouel A, et al. Among authors: verloes a. Eur J Med Genet. 2005 Oct-Dec;48(4):367-76. doi: 10.1016/j.ejmg.2005.05.006. Epub 2005 Jun 16. Eur J Med Genet. 2005. PMID: 16378921

9

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.

Tabet AC, Pilorge M, Delorme R, Amsellem F, Pinard JM, Leboyer M, Verloes A, Benzacken B, Betancur C. Tabet AC, et al. Among authors: verloes a. Eur J Hum Genet. 2012 May;20(5):540-6. doi: 10.1038/ejhg.2011.244. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234155 Free PMC article.

10

Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene.

Kaltenbach S, Capri Y, Rossignol S, Denjoy I, Soudée S, Aboura A, Baumann C, Verloes A. Kaltenbach S, et al. Among authors: verloes a. Clin Genet. 2013 Jul;84(1):78-81. doi: 10.1111/cge.12038. Epub 2012 Nov 14. Clin Genet. 2013. PMID: 23061425

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

514 results

Search Page

Filters