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Works (9)

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

American journal of medical genetics. Part A
2017-05 | Journal article
DOI: 10.1002/ajmg.a.38275
PMID: 28488400
Contributors: Jackson CC; Lefèvre-Utile A; Guimier A; Malan V; Bruneau J; Gessain A; Cassar O; Amiel J; Cobat A; Rattina V et al.
Source: Self-asserted source
Anne Guimier via Europe PubMed Central

[A gene coding for a metalloprotease for the first time implied in heterotaxy].

Medecine sciences : M/S
2016 | Journal article
DOI: 10.1051/medsci/20163206007
PMID: 27406754
Contributors: Bouvagnet P; Guimier A; Amiel J; Gordon CT
Source: Self-asserted source
Anne Guimier via Europe PubMed Central

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

American journal of human genetics
2016-09 | Journal article
DOI: 10.1016/j.ajhg.2016.06.021
PMID: 27523598
PMC: PMC5010643
Contributors: Guimier A; Gordon CT; Godard F; Ravenscroft G; Oufadem M; Vasnier C; Rambaud C; Nitschke P; Bole-Feysot C; Masson C et al.
Source: Self-asserted source
Anne Guimier via Europe PubMed Central

Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.

Pediatric blood & cancer
2016-01 | Journal article
DOI: 10.1002/pbc.25723
PMID: 26375764
Contributors: Heide S; Masliah-Planchon J; Isidor B; Guimier A; Bodet D; Coze C; Deville A; Thebault E; Pasquier CJ; Cassagnau E et al.
Source: Self-asserted source
Anne Guimier via Europe PubMed Central

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Nature genetics
2015-11 | Journal article
DOI: 10.1038/ng.3376
PMID: 26437028
PMC: PMC5620017
Contributors: Guimier A; Gabriel GC; Bajolle F; Tsang M; Liu H; Noll A; Schwartz M; El Malti R; Smith LD; Klena NT et al.
Source: Self-asserted source
Anne Guimier via Europe PubMed Central

Clinical characteristics and outcome of patients with neuroblastoma presenting genomic amplification of loci other than MYCN.

PloS one
2014 | Journal article
DOI: 10.1371/journal.pone.0101990
PMID: 25013904
PMC: PMC4094484
Contributors: Guimier A; Ferrand S; Pierron G; Couturier J; Janoueix-Lerosey I; Combaret V; Mosseri V; Thebaud E; Gambart M; Plantaz D et al.
Source: Self-asserted source
Anne Guimier via Europe PubMed Central

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion.

American journal of medical genetics. Part A
2014-05 | Journal article
DOI: 10.1002/ajmg.a.36452
PMID: 24665034
Contributors: Lehalle D; Sanlaville D; Guimier A; Plouvier E; Leblanc T; Galmiche L; Radford I; Romana S; Colleaux L; de Pontual L et al.
Source: Self-asserted source
Anne Guimier via Europe PubMed Central

AXIN genetic analysis in adrenocortical carcinomas updated.

Journal of endocrinological investigation
2013-12 | Journal article
DOI: 10.3275/9022
PMID: 23812285
Contributors: Guimier A; Ragazzon B; Assié G; Tissier F; Dousset B; Bertherat J; Gaujoux S
Source: Self-asserted source
Anne Guimier via Europe PubMed Central

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome.

The New England journal of medicine
2013-11 | Journal article
DOI: 10.1056/nejmoa1304603
PMID: 24283224
PMC: PMC4727443
Contributors: Assié G; Libé R; Espiard S; Rizk-Rabin M; Guimier A; Luscap W; Barreau O; Lefèvre L; Sibony M; Guignat L et al.
Source: Self-asserted source
Anne Guimier via Europe PubMed Central
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