E-LIB Suche - Ergebnisse für: Lefort Genevieve

1

Clinical utility of periodic reinterpretation of CNVs of un..:

Ravel, Jean-Marie ; Renaud, Mathilde ; Muller, Jean...
Genome Medicine. 15 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

2

Putative founder effect of Arg338* AP4M1 (SPG50) variant ca..:

Becker, Aurélie ; Felici, Charlotte ; Lambert, Laëtitia...
Clinical Genetics. 103 (2022) 3 - p. 346-351 , 2022

Link: https://doi.org/10.1111/..

3

Mosaic complete tetrasomy 21 in a fetus with complete atrio..:

Gatinois, Vincent ; Bigi, Nicole ; Mousty, Eve...
Molecular Genetics & Genomic Medicine. 7 (2019) 11 - p. , 2019

Link: https://doi.org/10.1002/..

4

Chromothripsis: potential origin in gametogenesis and preim..:

Pellestor, Franck ; Gatinois, Vincent ; Puechberty, Jacques..
Fertility and Sterility. 102 (2014) 6 - p. 1785-1796 , 2014

Link: https://doi.org/10.1016/..

5

CEP57 mutation in a girl with mosaic variegated aneuploidy ..:

Pinson, Lucile ; Mannini, Linda ; Willems, Marjolaine...
American Journal of Medical Genetics Part A. 164 (2013) 1 - p. 177-181 , 2013

Link: https://doi.org/10.1002/..

6

Dysspondyloenchondromatosis without COL2A1 mutation: Possib..:

Tran Mau‐Them, Frédéric ; Boualam, Aurélia ; Barat‐Houari, Mouna...
American Journal of Medical Genetics Part A. 164 (2013) 3 - p. 769-773 , 2013

Link: https://doi.org/10.1002/..

7

Meiotic segregation of complex reciprocal translocations: d..:

Pellestor, Franck ; Puechberty, Jacques ; Weise, Anja...
Fertility and Sterility. 95 (2011) 7 - p. 2433.e17-2433.e22 , 2011

Link: https://doi.org/10.1016/..

8

Epiphyseal punctate calcifications (stippling) in complete ..:

Perez, Marie‐José ; Schneider, Anouck ; Chaze, Anne‐Marie...
Prenatal Diagnosis. 29 (2009) 11 - p. 1085-1088 , 2009

Link: https://doi.org/10.1002/..

9

Prader‐Willi syndrome: is there a recognizable fetal phenot..:

Bigi, Nicole ; Faure, Jean‐Michel ; Coubes, Christine...
Prenatal Diagnosis. 28 (2008) 9 - p. 796-799 , 2008

Link: https://doi.org/10.1002/..

10

Early prenatal diagnosis of ICF syndrome by mutation detect..:

Rigolet, Muriel ; Grégoire, Annie ; Lefort, Geneviève...
Prenatal Diagnosis. 27 (2007) 11 - p. 1075-1078 , 2007

Link: https://doi.org/10.1002/..

11

Partial Epilepsy and 47,XXX Karyotype: Report of Four Cases:

Roubertie, Agathe ; Humbertclaude, Véronique ; Leydet, Julie..
Pediatric Neurology. 35 (2006) 1 - p. 69-74 , 2006

Link: https://doi.org/10.1016/..

12

Mosaic trisomy 16 in a fetus: the complex relationship betw..:

Moradkhani, Kamran ; Puechberty, Jacques ; Blanchet, Patricia...
Prenatal Diagnosis. 26 (2006) 12 - p. 1179-1182 , 2006

Link: https://doi.org/10.1002/..

13

Stable dicentric duplication‐deficiency chromosome 14 resul..:

Lefort, Geneviève ; Blanchet, Patricia ; Belgrade, Nabia...
American Journal of Medical Genetics. 113 (2002) 4 - p. 333-338 , 2002

Link: https://doi.org/10.1002/..

14

Neurological presentation of three patients with 22q11 dele..:

Roubertie, Agathe ; Semprino, Marcos ; Chaze, Anne Marie...
Brain and Development. 23 (2001) 8 - p. 810-814 , 2001

Link: https://doi.org/10.1016/..

15

Fetal cells in maternal blood: the use of primedin situ (PR..:

Orsetti, Beatrice ; Lefort, Genevieve ; Boulot, Pierre..
Prenatal Diagnosis. 18 (1998) 10 - p. 1014-1022 , 1998

Link: https://doi.org/10.1002/..