List of works by Jean-Pierre Siffroi

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A

scientific journal article

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.

scientific article published on 31 December 2010

Are human male patients with DAX1/NR0B1 mutations infertile?

scientific article published on 21 April 2014

Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays

scientific article published on 23 May 2009

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

scientific article

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases

scientific article published in July 2004

Collecting human spermatozoa onto filters for FISH. Application to the study of extreme oligozoospermia

scientific article published on November 2002

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

scientific article

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

scientific article published on 8 March 2017

Different Levels of DNA Methylation Detected in Human Sperms after Morphological Selection Using High Magnification Microscopy

scientific article published on 11 April 2016

Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers

scientific article published on 30 April 2013

Does anonymous sperm donation increase the risk for unions between relatives and the incidence of autosomal recessive diseases due to consanguinity?

scientific article published on 16 December 2013

Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counseling.

scientific article

Finding a single XY cell among XX cells in amniotic fluid by FISH: a possible consequence of a vanishing male twin?

scientific article

First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier

scientific article published on 23 January 2014

Functional Human Beige Adipocytes From Induced Pluripotent Stem Cells.

scientific article

GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure.

scientific article published in January 2006

High incidence of chromosomal abnormalities in oocyte donors

scientific article published on 13 November 2006

How can the genetic risks of embryo donation be minimized? Proposed guidelines of the French Federation of CECOS (Centre d'Etude et de Conservation des Oeufs et du Sperme).

scientific article published on 10 June 2004

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

scientific article published on 12 November 2017

Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit

scientific article

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

scientific article

In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene

scientific article

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements

scientific article published on 26 November 2014

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts.

scientific article

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

scientific article published on 16 February 2018

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia

scientific article

Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.

scientific article published in October 2007

Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier

scientific article published on 16 July 2005

Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome

scientific article

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

scientific article published on 24 January 2018

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

scientific article published on 24 July 2019

Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome

scientific article published on 8 January 2012

Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts ⬇️

scientific article published on February 1, 2011

Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers

scientific article published on 27 June 2017

Prenatal diagnosis of a large centromeric heteromorphism of chromosome 12: implications for genetic counseling

scientific article published on March 2003

Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism

scientific article

Prevalence of chromosomal abnormalities in phenotypically normal and fertile adult males: large-scale survey of over 10,000 sperm donor karyotypes.

scientific article

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

scientific article published on May 2013

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

scientific article published on 13 January 2018

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD)

scientific article published on 21 April 2015

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

scientific article published on 24 July 2013

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders

scientific article published on 17 March 2009

Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers

scientific article published on 4 January 2013

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

scientific article

Sperm fluorescence in situ hybridization study in nine men carrying a Robertsonian or a reciprocal translocation: relationship between segregation modes and high-magnification sperm morphology examination

scientific article published on 25 August 2011

Tail stump syndrome associated with chromosomal translocation in two brothers attempting intracytoplasmic sperm injection.

scientific article

Transcription in haploid male germ cells

scientific article published in January 2004

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature

scientific article published on 23 April 2015

Y chromosome variants and male reproductive function

scientific article

Y-chromosome AZFc structural architecture and relationship to male fertility.

scientific article published on 6 November 2008

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