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Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene

American journal of medical genetics. Part A, 2024-04, Vol.194 (4), p.e63479-n/a

2024

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Are leptin and adiponectin involved in recurrent pregnancy loss?

The journal of obstetrics and gynaecology research, 2018-06, Vol.44 (6), p.1015-1022

2018

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The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling

Molecular genetics & genomic medicine, 2024-04, Vol.12 (4), p.e2437-n/a

2024

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Chromosome methylation patterns during mammalian preimplantation development

Genes & development, 1998-07, Vol.12 (14), p.2108-2113

1998

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Are de novo rea(21;21) chromosomes really de novo?

Clinical case reports, 2015-10, Vol.3 (10), p.786-789

2015

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Genetic polymorphisms influence the ovarian response to rFSH stimulation in patients undergoing in vitro fertilization programs with ICSI

PloS one, 2012-06, Vol.7 (6), p.e38700-e38700

2012

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Associations between Individual and Combined Polymorphisms of the TNF and VEGF Genes and the Embryo Implantation Rate in Patients Undergoing In Vitro Fertilization (IVF) Programs

PloS one, 2014-09, Vol.9 (9), p.e108287-e108287

2014

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Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations

Prenatal diagnosis, 2015-01, Vol.35 (1), p.35-43

2015

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Williams-Beuren syndrome: the prenatal phenotype

American journal of obstetrics and gynecology, 2011-12, Vol.205 (6), p.e6-e8

2011

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Can one translocation impact the meiotic segregation of another translocation? A sperm-FISH analysis of a 46,XY,t(1;16)(q21;p11.2),t(8;9) (q24.3;p24) patient and his 46,XY, t(8;9)(q24.3;p24) brother and cousin

Molecular human reproduction, 2013-02, Vol.19 (1-2), p.109-117

2013

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Sperm FISH analysis of a 46,XY,t(3;6)(p24;p21.2),inv (8)(p11;2q21.2) double chromosomal rearrangement

Reproductive biomedicine online, 2012-02, Vol.24 (2), p.219-223

2012

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The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type

Fertility and sterility, 2011-12, Vol.96 (6), p.1337-1343

2011

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The High Frequency of Sperm Aneuploidy in Klinefelter Patients and in Nonobstructive Azoospermia Is Due to Meiotic Errors in Euploid Spermatocytes

Journal of andrology, 2012-11, Vol.33 (6), p.1352-1359

2012

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Sperm chromosome analysis of an infertile patient with a 95% mosaic r(21) karyotype and normal phenotype

Fertility and sterility, 2009-03, Vol.91 (3), p.930.e13-930.e15

2009

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Is classic pericentric inversion of chromosome 2 inv(2)(p11q13) associated with an increased risk of unbalanced chromosomes?

Fertility and sterility, 2009-10, Vol.92 (4), p.1497.e1-1497.e4

2009

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Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations

European journal of medical genetics, 2020-08, Vol.63 (8), p.103956, Article 103956

2020

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Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency

Journal of the Endocrine Society, 2021-07, Vol.5 (7), p.bvab032-bvab032

2021

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Parental origin and mechanisms of formation of three eases of 12p tetrasomy

Clinical genetics, 1996-07, Vol.50 (1), p.41-46

1996

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Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Prenatal diagnosis, 2019-10, Vol.39 (11), p.986-992

2019

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The vascular endothelial growth factor (VEGF) +405 G/C polymorphism and its relationship with recurrent implantation failure in women in an IVF programme with ICSI

Journal of assisted reproduction and genetics, 2012-12, Vol.29 (12), p.1415-1420

2012

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Associations between Individual and Combined Polymorphisms of the TNF and VEGF Genes and the Embryo Implantation Rate in Patients Undergoing In Vitro Fertilization

PloS one, 2014-09, Vol.9 (9)

2014

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High-magnification sperm selection does not decrease the aneuploidy rate in patients who are heterozygous for reciprocal translocations

Journal of assisted reproduction and genetics, 2013-04, Vol.30 (4), p.525-530

2013

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Are zona pellucida laser drilling and polar body biopsy safe for in vitro matured oocytes?

Journal of assisted reproduction and genetics, 2010-07, Vol.27 (7), p.423-427

2010

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Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene

Are leptin and adiponectin involved in recurrent pregnancy loss?

The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling

Chromosome methylation patterns during mammalian preimplantation development

Are de novo rea(21;21) chromosomes really de novo?

Genetic polymorphisms influence the ovarian response to rFSH stimulation in patients undergoing in vitro fertilization programs with ICSI

Associations between Individual and Combined Polymorphisms of the TNF and VEGF Genes and the Embryo Implantation Rate in Patients Undergoing In Vitro Fertilization (IVF) Programs

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations

Williams-Beuren syndrome: the prenatal phenotype

Can one translocation impact the meiotic segregation of another translocation? A sperm-FISH analysis of a 46,XY,t(1;16)(q21;p11.2),t(8;9) (q24.3;p24) patient and his 46,XY, t(8;9)(q24.3;p24) brother and cousin

Sperm FISH analysis of a 46,XY,t(3;6)(p24;p21.2),inv (8)(p11;2q21.2) double chromosomal rearrangement

The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type

The High Frequency of Sperm Aneuploidy in Klinefelter Patients and in Nonobstructive Azoospermia Is Due to Meiotic Errors in Euploid Spermatocytes

Sperm chromosome analysis of an infertile patient with a 95% mosaic r(21) karyotype and normal phenotype

Is classic pericentric inversion of chromosome 2 inv(2)(p11q13) associated with an increased risk of unbalanced chromosomes?

Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations

Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency

Parental origin and mechanisms of formation of three eases of 12p tetrasomy

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

The vascular endothelial growth factor (VEGF) +405 G/C polymorphism and its relationship with recurrent implantation failure in women in an IVF programme with ICSI

Associations between Individual and Combined Polymorphisms of the TNF and VEGF Genes and the Embryo Implantation Rate in Patients Undergoing In Vitro Fertilization

High-magnification sperm selection does not decrease the aneuploidy rate in patients who are heterozygous for reciprocal translocations

Are zona pellucida laser drilling and polar body biopsy safe for in vitro matured oocytes?

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies: Prevalence of recurrent pathogenic copy number in prenatal population

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