Publications by authors named "Veronica Cusin"

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Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Anna Gerasimenko, Cyril Mignot, Olivier Naggara, Florence Coulet, Samar Ekram, Veronica Cusin

Clin Genet· July 2024

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Features of colorectal adenomas among young patients with Lynch syndrome according to path_MMR: Results from the PRED-IdF registry.
Hadrien Alric, Elise Coffin, Celine Lekhal, Patrick R Benusiglio, Marion Dhooge, Veronica Cusin

Dig Liver Dis· April 2024

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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Sandrine M Caputo, Lisa Golmard, Mélanie Léone, Francesca Damiola, Marine Guillaud-Bataille, Véronica Cusin

Am J Hum Genet· October 2021

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Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Flavie Boulouard, Edwige Kasper, Marie-Pierre Buisine, Gwendoline Lienard, Stéphanie Vasseur, Véronica Cusin

Clin Genet· May 2021

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Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
Patrick R Benusiglio, Chrystelle Colas, Erell Guillerm, Axelle Canard, Hélène Delhomelle, Veronica Cusin

Gastric Cancer· July 2019

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[The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition].
Jessica Moretta, Pascaline Berthet, Valérie Bonadona, Olivier Caron, Odile Cohen-Haguenauer, Véronica Cusin

Bull Cancer· October 2018

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Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
Mélodie Aubart, Delphine Gobert, Fleur Aubart-Cohen, Delphine Detaint, Nadine Hanna, Veronica Cusin

PLoS One· October 2015

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The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
Salima El Chehadeh-Djebbar, Laurence Faivre, Anne Moncla, Bernard Aral, Chantal Missirian, Veronica Cusin

J Med Genet· November 2011

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Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
Betty Gardie, Audrey Remenieras, Darouna Kattygnarath, Johny Bombled, Sandrine Lefèvre, Veronica Cusin

J Med Genet· April 2011

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A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.
Philippe Latour, Christel Thauvin-Robinet, Chantal Baudelet-Méry, Pierre Soichot, Veronica Cusin

Am J Hum Genet· January 2010

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Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?
Christel Thauvin-Robinet, Nicole Laurent, Thierry Rousseau, Stéphanie Couvreur, Véronica Cusin

Eur J Med Genet· March 2007

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A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis.
Anne Donzel-Javouhey, Christel Thauvin-Robinet, Veronica Cusin, Nathalie Madinier, Eric Manceau

Am J Med Genet A· July 2006

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Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Olivier Clermont, Philippe Burlet, Paule Benit, Dominique Chanterau, Pascale Saugier-Veber, Veronica Cusin

Hum Mutat· November 2004

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Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France.
Valérie Biancalana, Chérif Beldjord, Agnès Taillandier, Sylvie Szpiro-Tapia, Véronica Cusin

Am J Med Genet A· September 2004

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Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
Louis Viollet, Mohammed Zarhrate, Isabelle Maystadt, Brigitte Estournet-Mathiaut, Annie Barois, Veronica Cusin

Eur J Hum Genet· June 2004

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Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.
Laurence Faivre, Thierry Rousseau, Nicole Laurent, Philippe Gosset, Damien Sanlaville, Véronica Cusin

Prenat Diagn· May 2004

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Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq.
Christel Thauvin-Robinet, Laurence Faivre, Véronica Cusin, Philippe Khau Van Kien, Patrick Callier

Am J Med Genet A· April 2004

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