Stable dicentric duplication‐deficiency chromosome 14 resulting from crossing‐over within a maternal paracentric inversion

Geneviève Lefort, Patricia Blanchet, Nabia Belgrade, +5

American Journal of Medical Genetics

Maternal Paracentric InversionCytogeneticsGeneticsMolecular GeneticsEpigenetics +16

Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier

Franck Pellestor, Jacques Puechberty, Anja Weise, +4

Fertility and Sterility

SpermatogenesisFertilityGeneticsDirect AnalysisMolecular Genetics +16

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

Martine Doco‐Fenzy, Camille Leroy, Anouck Schneider, +21

European Journal of Human Genetics

ObesityMetabolic SyndromeMyt1l GenesEarly-onset ObesityMetabolic Disorder +8

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

Frédéric Tran Mau‐Them, Marjolaine Willems, Beate Albrecht, +17

European Journal of Human Genetics

Intellectual ImpairmentGenetic DisorderGeneticsSevere Intellectual DisabilityFragile X Spectrum +5

Prader‐Willi syndrome: is there a recognizable fetal phenotype?

Nicole Bigi, Jean‐Michel Faure, Christine Coubes, +4

Prenatal Diagnosis

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome

Lucile Pinson, Linda Mannini, Marjolaine Willems, +11

American Journal of Medical Genetics Part A

Rapid in situ detection of chromosome 21 by PRINS technique

Franck Pellestor, Anne Girardet, Geneviève Lefort, +2

American Journal of Medical Genetics

Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions

Samarth Bhatt, Kamran Moradkhani, Kristin Mrasek, +10

European Journal of Human Genetics

FertilityCytogeneticsGeneticsBreakpoint MappingReproductive Biology +14

Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study

Jean‐Marie Ravel, M. Renaud, Jean Muller, +9

Genome Medicine

Fetal cells in maternal blood: the use of primedin situ (PRINS) labelling technique for fetal cell detection and sex assessment

Béatrice Orsetti, Geneviève Lefort, Pierre Boulot, +2

Prenatal Diagnosis