Search Results - "Pellestor, F"
-
1
Chromoanagenesis, the mechanisms of a genomic chaos
Published in Seminars in cell & developmental biology (01-03-2022)“…Designated under the name of chromoanagenesis, the phenomena of chromothripsis, chromanasynthesis and chromoplexy constitute new types of complex…”
Get full text
Journal Article -
2
Complex chromosomal rearrangements: origin and meiotic behavior
Published in Human reproduction update (01-07-2011)“…Complex chromosomal rearrangements (CCRs) describe structural rearrangements, essentially translocations, involving at least three breakpoints on two or more…”
Get full text
Journal Article -
3
C6 PGD and translocations
Published in Reproductive biomedicine online (2010)Get full text
Journal Article -
4
Discordant sex in monozygotic XXY/XX twins: a case report
Published in Human reproduction (Oxford) (01-12-2014)“…We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive…”
Get full text
Journal Article -
5
Effect of maternal age on the frequency of cytogenetic abnormalities in human oocytes
Published in Cytogenetic and genome research (01-01-2005)“…The cytogenetic investigation of human oocytes was initiated in the Sixties, and for the last four decades, this field of research has never stopped…”
Get more information
Journal Article -
6
The chromosomal analysis of human oocytes. An overview of established procedures
Published in Human reproduction update (01-01-2005)“…The cytogenetic survey of mature human oocytes has been and remains a subject of great interest because of the prevalence of aneuploidy of maternal origin in…”
Get full text
Journal Article -
7
Combined FISH and PRINS sperm analysis of complex chromosome rearrangement t(1;19;13): an approach facilitating PGD
Published in Molecular human reproduction (01-02-2010)“…Complex chromosome rearrangements (CCRs) are structural aberrations involving three or more breakpoints on two or more chromosomes. These CCRs result in a high…”
Get full text
Journal Article -
8
Apoptosis and meiotic segregation in ejaculated sperm from Robertsonian translocation carrier patients
Published in Human reproduction (Oxford) (01-07-2010)“…BACKGROUND To better understand the infertility of patients with Robertsonian translocation, the biochemical and ultrastructural apoptotic characteristics of…”
Get full text
Journal Article -
9
Mechanisms of non-disjunction in human female meiosis: the co-existence of two modes of malsegregation evidenced by the karyotyping of 1397 in-vitro unfertilized oocytes
Published in Human reproduction (Oxford) (01-08-2002)“…BACKGROUND: Although numerous studies have been published on the chromosomal constitution of in-vitro unfertilized human oocytes, data remain highly variable…”
Get full text
Journal Article -
10
Predictive value of sperm-FISH analysis on the outcome of preimplantation genetic diagnosis (PGD) for a pericentric inversion inv5(p15.3q11.2) carrier
Published in Human reproduction (Oxford) (01-07-2010)“…BACKGROUND Pericentric inversions (PIs) are structural chromosomal abnormalities, potentially associated with infertility or multiple miscarriages. More…”
Get full text
Journal Article -
11
O-27 Chromosomal analysis of induced pluripotent stem cells derived from senescent cells of elderly persons
Published in Reproductive biomedicine online (01-05-2013)Get full text
Journal Article -
12
Inverted segment size and the presence of recombination hot spot clusters matter in sperm segregation analysis
Published in Cytogenetic and genome research (01-01-2014)Get more information
Journal Article -
13
Rare Robertsonian translocations and meiotic behaviour: sperm FISH analysis of t(13;15) and t(14;15) translocations: A Case Report
Published in Human reproduction (Oxford) (01-12-2006)“…t(13;15) and t(14;15) are two rare Robertsonian translocations. Meiotic segregation was studied in four males heterozygous for the rare Robertsonian…”
Get full text
Journal Article -
14
Comparison of male and female meiotic segregation patterns in translocation heterozygotes: a case study in an animal model (Sus scrofa domestica L.)
Published in Human reproduction (Oxford) (01-09-2005)“…BACKGROUND: The comparison of male and female meiotic segregation patterns for individuals carrying identical reciprocal translocations has been rarely…”
Get full text
Journal Article -
15
P-58 When transmission modifies the complexity of familial chromosome rearrangements
Published in Reproductive biomedicine online (01-05-2013)Get full text
Journal Article -
16
The occurrence of aneuploidy in human: lessons from the cytogenetic studies of human oocytes
Published in European journal of medical genetics (01-03-2006)“…During the last 4 decades, the cytogenetic investigation of human oocytes has never stopped to progress, according to the advents of new technologies. Both…”
Get full text
Journal Article -
17
-
18
In situ aneuploidy assessment in human sperm: the use of primed in situ and peptide nucleic acid‐fluorescence in situ hybridization techniques
Published in Asian journal of andrology (01-07-2006)“…Both the primed in situ (PRINS) and the peptide nucleic acid‐fluorescence in situ hybridization (PNA‐FISH) techniques constitute alternatives to the…”
Get full text
Journal Article -
19
Chromothripsis: how does such a catastrophic event impact human reproduction?
Published in Human reproduction (Oxford) (01-03-2014)“…The recent discovery of a new kind of massive chromosomal rearrangement, baptized chromothripsis (chromo for chromosomes, thripsis for shattering into pieces),…”
Get full text
Journal Article -
20
Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques
Published in Human reproduction (Oxford) (01-06-2001)“…The possibility that a chromosomal rearrangement might disturb the meiotic behaviour of chromosomes not involved in the rearrangement and favour…”
Get full text
Journal Article