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Bonniere, Maryse
49  results:
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1

Morphological and genetic causes of fetal cardiomyopathies:

Kohaut, Eva ; Ader, Flavie ; Rooryck, Caroline...
Clinical Genetics.  104 (2023)  1 - p. 63-72 , 2023
Link: https://doi.org/10.1111/..
 
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2

Geleophysic and acromicric dysplasias: natural history, gen..:

Marzin, Pauline ; Thierry, Briac ; Dancasius, Andrea...
Genetics in Medicine.  23 (2021)  2 - p. 331-340 , 2021
Link: https://doi.org/10.1038/..
 
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3

TAR syndrome: Clinical and molecular characterization of a ..:

Boussion, Simon ; Escande, Fabienne ; Jourdain, Anne‐Sophie...
Human Mutation.  41 (2020)  7 - p. 1220-1225 , 2020
Link: https://doi.org/10.1002/..
 
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4

Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome..:

Le Van Quyen, Pauline ; Calmels, Nadège ; Bonnière, Maryse...
American Journal of Medical Genetics Part A.  182 (2020)  5 - p. 1236-1242 , 2020
Link: https://doi.org/10.1002/..
 
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5

Amniotic bands and associated polymicrogyria: In favor of a..:

Feucht, Florence ; Vaast, Pascal ; Bonniere, Maryse...
European Journal of Obstetrics & Gynecology and Reproductive Biology.  236 (2019)  - p. 252-254 , 2019
Link: https://doi.org/10.1016/..
 
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6

Mutations in IFT80 cause SRPS Type IV. Report of two famili..:

Bizaoui, Varoona ; Huber, Céline ; Kohaut, Eva...
American Journal of Medical Genetics Part A.  179 (2019)  4 - p. 639-644 , 2019
Link: https://doi.org/10.1002/..
 
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7

Novel de novo ZBTB20 mutations in three cases with Primrose..:

Alby, Caroline ; Boutaud, Lucile ; Bessières, Bettina...
American Journal of Medical Genetics Part A.  176 (2018)  5 - p. 1091-1098 , 2018
Link: https://doi.org/10.1002/..
 
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8

A clinical and histopathological study of malformations obs..:

Beaufrère, Aurélie ; Bessières, Bettina ; Bonnière, Maryse...
Brain Pathology.  29 (2018)  1 - p. 114-125 , 2018
Link: https://doi.org/10.1111/..
 
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9

Stress-induced unfolded protein response contributes to Zik..:

Gladwyn-Ng, Ivan ; Cordón-Barris, Lluís ; Alfano, Christian...
Nature Neuroscience.  21 (2017)  1 - p. 63-71 , 2017
Link: https://doi.org/10.1038/..
 
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10

Molecular diagnosis of PIK3CA-related overgrowth spectrum (..:

Kuentz, Paul ; St-Onge, Judith ; Duffourd, Yannis...
Genetics in Medicine.  19 (2017)  9 - p. 989-997 , 2017
Link: https://doi.org/10.1038/..
 
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11

Early neonatal death and congenital left coronary abnormali..:

Laux, Daniela ; Bessières, Bettina ; Houyel, Lucile...
Archives of Cardiovascular Diseases.  106 (2013)  4 - p. 202-208 , 2013
Link: https://doi.org/10.1016/..
 
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12

Analysis of human samples reveals impaired SHH-dependent ce..:

Aguilar, Andrea ; Meunier, Alice ; Strehl, Laetitia...
Proceedings of the National Academy of Sciences.  109 (2012)  42 - p. 16951-16956 , 2012
Link: https://doi.org/10.1073/..
 
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13

Analysis of human samples reveals impaired SHH-dependent ce..:

Aguilar, Andrea ; Meunier, Alice ; Strehl, Laetitia...
Proceedings of the National Academy of Sciences of the United States of America.  109 (2012)  42 - p. 16951-16956 , 2012
Link: https://www.jstor.org/st..
 
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14

PAX2 mutations in fetal renal hypodysplasia:

Martinovic‐Bouriel, Jelena ; Benachi, Alexandra ; Bonnière, Maryse...
American Journal of Medical Genetics Part A.  152A (2010)  4 - p. 830-835 , 2010
Link: https://doi.org/10.1002/..
 
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15

NovelTMEM67mutations and genotype-phenotype correlates in m..:

Iannicelli, Miriam ; Brancati, Francesco ; Mougou-Zerelli, Soumaya...
Human Mutation.  , 2010
Link: https://doi.org/10.1002/..
 
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