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Pennamen, Perrine
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1

Dopachrome tautomerase variants in patients with oculocutan..:

Pennamen, Perrine ; Tingaud-Sequeira, Angèle ; Gazova, Iveta...
Genetics in Medicine.  23 (2021)  3 - p. 479-487 , 2021
Link: https://doi.org/10.1038/..
 
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2

Evidence of mosaicism in SPAST variant carriers in four Fre..:

Angelini, Chloé ; Goizet, Cyril ; Said, Samia Ait...
European Journal of Human Genetics.  29 (2021)  7 - p. 1158-1163 , 2021
Link: https://doi.org/10.1038/..
 
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3

BLOC1S5 pathogenic variants cause a new type of Hermansky–P..:

Pennamen, Perrine ; Le, Linh ; Tingaud-Sequeira, Angèle...
Genetics in Medicine.  22 (2020)  10 - p. 1613-1622 , 2020
Link: https://doi.org/10.1038/..
 
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4

Novel variants in the BLOC1S3 gene in patients presenting a..:

Pennamen, Perrine ; Tingaud‐Sequeira, Angèle ; Michaud, Vincent...
Pigment Cell & Melanoma Research.  34 (2020)  1 - p. 132-135 , 2020
Link: https://doi.org/10.1111/..
 
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5

Expanding the genotypic and phenotypic spectrum of severe s..:

Abdelfattah, Fatima ; Kariminejad, Ariana ; Kahlert, Anne‐Karin...
Human Mutation.  41 (2020)  9 - p. 1615-1628 , 2020
Link: https://doi.org/10.1002/..
 
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6

Human interleukin-2 receptor β mutations associated with de..:

Zhang, Zinan ; Gothe, Florian ; Pennamen, Perrine...
Journal of Experimental Medicine.  216 (2019)  6 - p. 1311-1327 , 2019
Link: https://doi.org/10.1084/..
 
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7

CRISPR-Cas9 genome editing induces megabase-scale chromosom..:

Cullot, Grégoire ; Boutin, Julian ; Toutain, Jérôme...
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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8

PADDAS syndrome associated with hair dysplasia caused by a ..:

Bonnemason‐Carrere, Paul ; Morice‐Picard, Fanny ; Pennamen, Perrine...
American Journal of Medical Genetics Part A.  179 (2019)  6 - p. 1030-1033 , 2019
Link: https://doi.org/10.1002/..
 
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9

Interest of chromosomal microarray analysis in the prenatal..:

Brun, Stephanie ; Pennamen, Perrine ; Mattuizzi, Aurelien...
Prenatal Diagnosis.  38 (2018)  13 - p. 1111-1119 , 2018
Link: https://doi.org/10.1002/..
 
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10

Deletion in 2q35 excluding the IHH gene leads to fetal seve..:

Trimouille, Aurélien ; Tingaud-Sequeira, Angèle ; Pennamen, Perrine...
European Journal of Human Genetics.  27 (2018)  3 - p. 384-388 , 2018
Link: https://doi.org/10.1038/..
 
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11

Étude des topologically associated domains (TADs) en diagno..:

Trimouille, Aurélien ; Tingaud-Sequeira, Angèle ; Pennamen, Perrine...
Morphologie.  102 (2018)  338 - p. 141 , 2018
Link: https://doi.org/10.1016/..
 
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12

An in-frame deletion inBICD2associated with a non-progressi..:

Trimouille, Aurélien ; Obre, Émilie ; Banneau, Guillaume...
Clinical Neurology and Neurosurgery.  166 (2018)  - p. 1-3 , 2018
Link: https://doi.org/10.1016/..
 
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13

Molecular characterization of a series of 990 index patient..:

Lasseaux, Eulalie ; Plaisant, Claudio ; Michaud, Vincent...
Pigment Cell & Melanoma Research.  31 (2018)  4 - p. 466-474 , 2018
Link: https://doi.org/10.1111/..
 
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14

SRSF1 haploinsufficiency is responsible for a syndromic dev..:

Bogaert, Elke ; Garde, Aurore ; Gautier, Thierry...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10183470/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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15

Clinical and genomic delineation of the new proximal 19p13...:

JOURET, Guillaume ; EGLOFF, Matthieu ; LANDAIS, Emilie...
1552-4833.  , 2023
Link: https://oskar-bordeaux.f..
 
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