Jean-Pierre Siffroi

Jean-Pierre Siffroi

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Jean-Pierre Siffroi

Jean-Pierre Siffroi

Publications by authors named "Jean-Pierre Siffroi"

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67Publications

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A 14q distal chromoanagenesis elucidated by whole genome sequencing.

Eur J Med Genet 2019 Sep 25:103776. Epub 2019 Sep 25.

Service de Génétique, Laboratoire de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron, France; GENDEV Team, Neurosciences Research Center of Lyon, INSERM U1028, CNRS UMR5292, UCBL1, 69677, Bron, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103776DOI Listing
September 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

J Med Genet 2019 Aug 28;56(8):526-535. Epub 2019 Mar 28.

Service de Génétique, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1136/jmedgenet-2018-105778DOI Listing
August 2019

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

Am J Hum Genet 2019 Jul 6;105(1):198-212. Epub 2019 Jun 6.

Sorbonne Université, Institut National de la Santé et de la Recherche Médicale U933, Hôpital Trousseau, Paris 75012, France; Assistance Publique-Hôpitaux de Paris, Département de Génétique Médicale, Hôpital Trousseau, Paris 75012, France.

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http://dx.doi.org/10.1016/j.ajhg.2019.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612517PMC
July 2019

Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.

J Assist Reprod Genet 2019 May 8;36(5):973-978. Epub 2019 Mar 8.

Département de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Unité INSERM 933, 26 avenue du Dr Arnold Netter, 75012, Paris, France.

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http://dx.doi.org/10.1007/s10815-019-01430-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541678PMC
May 2019

[Atypical genital development and tumor risk].

Bull Cancer 2019 May 23;106(5):461-467. Epub 2019 Mar 23.

Groupement hospitalier Est, hospices Civils de Lyon, institut Multisite de pathologie, 69500 Bron, France.

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http://dx.doi.org/10.1016/j.bulcan.2019.01.018DOI Listing
May 2019

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.

Sex Dev 2017 13;11(5-6):293-297. Epub 2018 Jan 13.

Department of Pediatric Surgery and Urology, Robert-Debré Pediatric Hospital, APHP, Paris, France.

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http://dx.doi.org/10.1159/000485909DOI Listing
October 2018

Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?

Eur J Endocrinol 2018 Sep 4;179(3):181-190. Epub 2018 Jul 4.

Pediatric Endocrinology Department, CHU Robert Debré, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Assistance-Publique Hôpitaux de Paris and Université Paris Diderot, Sorbonne Paris Cité, Paris, France.

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https://eje.bioscientifica.com/view/journals/eje/179/3/EJE-1
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http://dx.doi.org/10.1530/EJE-18-0309DOI Listing
September 2018

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

Endocr Connect 2018 Mar 2;7(3):395-402. Epub 2018 Feb 2.

Service d'Endocrinologie et Médecine de la ReproductionCentre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France.

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http://dx.doi.org/10.1530/EC-17-0306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827574PMC
March 2018

Functional Human Beige Adipocytes From Induced Pluripotent Stem Cells.

Diabetes 2017 06 7;66(6):1470-1478. Epub 2017 Mar 7.

Sorbonne Universités, Université Pierre et Marie Curie, INSERM UMR_S938, Centre de Recherche Saint-Antoine, Institute of Cardiometabolism and Nutrition, Paris, France.

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http://dx.doi.org/10.2337/db16-1107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440013PMC
June 2017

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

J Pediatr 2017 06 8;185:160-166.e1. Epub 2017 Mar 8.

APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, Hôpital Armand-Trousseau, Department of genetics, Division of clinical genetics, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2017.02.023DOI Listing
June 2017

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

Biomed Res Int 2016 11;2016:6372171. Epub 2016 Apr 11.

Reproductive Biology & Medical Cytogenetic Laboratory, University Hospital & School of Medicine, Picardy University Jules Verne, 80025 Amiens, France.

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http://dx.doi.org/10.1155/2016/6372171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4842358PMC
February 2017

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

Eur J Med Genet 2015 Jun-Jul;58(6-7):341-5. Epub 2015 Apr 23.

APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.04.003DOI Listing
March 2016

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

Mol Autism 2015 25;6:19. Epub 2015 Mar 25.

INSERM, UMR 1130, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; CNRS, UMR 8246, Neuroscience Paris Seine, 9 quai Saint Bernard, 75005 Paris, France ; Sorbonne Universités, UPMC Univ Paris 6, Institut de Biologie Paris-Seine, 9 quai Saint Bernard, 75005 Paris, France.

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http://www.molecularautism.com/content/6/1/19
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http://dx.doi.org/10.1186/s13229-015-0015-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384291PMC
April 2015

Nuclear volume differences between balanced and unbalanced spermatozoa in chromosomal translocation carriers.

Reprod Biomed Online 2015 Mar 4;30(3):290-5. Epub 2014 Dec 4.

Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Unité INSERM U933, 26 Avenue du Dr Arnold Netter, Paris 75012, France.

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http://dx.doi.org/10.1016/j.rbmo.2014.10.019DOI Listing
March 2015

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

Am J Med Genet A 2015 Feb 26;167A(2):428-33. Epub 2014 Nov 26.

Service de Génétique et Embryologie médicales, AP-HP, Hôpital Armand Trousseau, Université Paris VI, Paris, France; Département de génétique, AP-HP, Hôpital Robert Debré, Université Paris VII, Paris, France.

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http://doi.wiley.com/10.1002/ajmg.a.36857
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http://dx.doi.org/10.1002/ajmg.a.36857DOI Listing
February 2015

Are human male patients with DAX1/NR0B1 mutations infertile?

Ann Endocrinol (Paris) 2014 May 21;75(2):126-7. Epub 2014 Apr 21.

Service d'endocrinologie, hôpital Saint-Antoine, AP-HP, université Paris VI, 184, rue du faubourg Saint-Antoine, 75012 Paris, France; Unité Inserm UMR S933, 75012 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2014.03.003DOI Listing
May 2014

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

Hum Reprod 2014 Mar 16;29(3):394-9. Epub 2013 Dec 16.

EA 2493 'Pathologie Cellulaire and Génétique, de la Conception à la Naissance', Université de Versailles, Saint Quentin en Yvelines, France.

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http://dx.doi.org/10.1093/humrep/det452DOI Listing
March 2014

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

Case Rep Genet 2014 23;2014:906145. Epub 2014 Jan 23.

Medical Genetics and Embryology Department, AP-HP, Trousseau Hospital, 28 avenue du Docteur Arnold Netter, 75012 Paris, France.

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http://dx.doi.org/10.1155/2014/906145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3920970PMC
March 2014

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

Eur J Hum Genet 2014 Jan 1;22(1):71-8. Epub 2013 May 1.

1] INSERM, U975 (CRICM), Institut du cerveau et de la moelle épinière (ICM), Hôpital Pitié-Salpêtrière, Paris, France [2] CNRS 7225 (CRICM), Hôpital Pitié-Salpêtrière, Paris, France [3] Université Pierre et Marie Curie-Paris-6 (UPMC), UMR_S 975, Paris, France [4] AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de génétique clinique, Paris, France [5] AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de neurogénétique moléculaire et cellulaire, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2013.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865413PMC
January 2014

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

Eur J Med Genet 2013 Oct 24;56(10):546-50. Epub 2013 Jul 24.

APHP, Groupe hospitalier Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France; Université Pierre et Marie Curie, Faculté de Médecine, Paris, France; INSERM UMRS 975, CNRS UMR 725, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.06.005DOI Listing
October 2013

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

Case Rep Genet 2013 13;2013:592702. Epub 2013 Jan 13.

Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, APHP, UPMC, 75012 Paris, France.

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http://dx.doi.org/10.1155/2013/592702DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3557612PMC
February 2013

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

Eur J Med Genet 2012 Nov 15;55(11):635-40. Epub 2012 Jul 15.

Service de Génétique et Embryologie médicales, Hôpital Armand Trousseau, APHP, UPMC, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.07.001DOI Listing
November 2012

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

Reprod Biomed Online 2012 Apr 8;24(4):462-5. Epub 2012 Jan 8.

UPMC Université Paris 06, Paris, France.

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http://dx.doi.org/10.1016/j.rbmo.2011.12.008DOI Listing
April 2012

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

Hum Mol Genet 2012 Mar 10;21(5):1004-17. Epub 2011 Nov 10.

INMED, Parc Scientifique de Luminy, Marseille, France; Université de la Mé diterranée, UMR S901 Aix-Marseille 2, Marseille, France; Inserm Unité 901, Marseille, France.

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http://dx.doi.org/10.1093/hmg/ddr531DOI Listing
March 2012

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

Eur J Med Genet 2011 May-Jun;54(3):287-91. Epub 2010 Dec 31.

Service de Génétique et Embryologie médicales, Hôpital Armand Trousseau, APHP, UPMC, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.12.006DOI Listing
September 2011

Heritable disease and sperm donation.

JAMA 2010 Feb;303(7):617; author reply 618

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http://dx.doi.org/10.1001/jama.2010.122DOI Listing
February 2010

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

Fertil Steril 2009 Dec 6;92(6):1924-33. Epub 2008 Nov 6.

Human Developmental Genetics, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2008.08.135DOI Listing
December 2009

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

Fertil Steril 2009 Apr 25;91(4 Suppl):1604-7. Epub 2009 Jan 25.

Human Developmental Genetics, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2008.12.006DOI Listing
April 2009

[Y chromosome and male infertility: what is a normal Y chromosome?].

J Soc Biol 2008 13;202(2):135-41. Epub 2008 Jun 13.

Reproduction, Fertilité et Populations, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France.

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http://dx.doi.org/10.1051/jbio:2008017DOI Listing
October 2008

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

Clin Dysmorphol 2007 Oct;16(4):247-52

Cytogenetics Laboratory, AP-HP, Saint-Antoine's Hospital, Pierre and Marie Curie University, Paris, France.

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http://dx.doi.org/10.1097/MCD.0b013e328235a572DOI Listing
October 2007

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

Am J Med Genet A 2007 Oct;143A(20):2417-22

Laboratoire de Cytogénétique, AP-HP, Hôpital Saint-Antoine, Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.31931DOI Listing
October 2007

High incidence of chromosomal abnormalities in oocyte donors.

Fertil Steril 2007 Feb 13;87(2):439-41. Epub 2006 Nov 13.

CECOS Paris Tenon, Hôpital Tenon, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2006.06.053DOI Listing
February 2007

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

Fertil Steril 2006 Sep;86(3):719.e1-7

AP-HP, Hôpital Tenon, Service d'Histologie Biologie de la Reproduction Cytogénétique, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2005.12.078DOI Listing
September 2006

Expression of apoptosis-related proteins in peritoneal, ovarian and colorectal endometriosis.

J Reprod Immunol 2006 Jun 27;70(1-2):151-62. Epub 2005 Dec 27.

Service d'Anatomie Pathologie, Hôpital Tenon, AP-HP, UFR Saint Antoine, Paris VI, France.

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http://dx.doi.org/10.1016/j.jri.2005.11.003DOI Listing
June 2006

Y chromosome variants and male reproductive function.

Int J Androl 2006 Feb;29(1):298-303; discussion 304-6

Reproduction, Fertility and Populations, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1111/j.1365-2605.2005.00637.xDOI Listing
February 2006

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

J Hum Genet 2005 16;50(7):360-4. Epub 2005 Jul 16.

Laboratoire de Biologie de la Reproduction-CECOS, CHU Charles Nicolle, Rouen, France.

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http://dx.doi.org/10.1007/s10038-005-0259-3DOI Listing
January 2006

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

Fertil Steril 2006 Jan;85(1):229-31

Reproduction, Fertility and Populations, Department of Developmental Biology, Institut Pasteur, Paris, France.

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http://dx.doi.org/10.1016/j.fertnstert.2005.07.1278DOI Listing
January 2006

Endometrium from women with and without endometriosis, and peritoneal, ovarian and bowel endometriosis, show different c-kit protein expression.

J Reprod Immunol 2005 Feb;65(1):55-63

Service d'Anatomie Pathologie, Hôpital Tenon, AP-HP, 4 rue de la Chine, 75020 Paris, France.

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http://dx.doi.org/10.1016/j.jri.2004.09.002DOI Listing
February 2005

Transcription in haploid male germ cells.

Int Rev Cytol 2004 ;237:1-56

Laboratoire de Cytologie et Histologie, Centre Universitaire des Saints-Pères, 75270 Paris, France.

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http://dx.doi.org/10.1016/S0074-7696(04)37001-4DOI Listing
November 2004

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

Ann Genet 2004 Jul-Sep;47(3):241-9

Service d'Histologie, Biologie de la Reproduction et Cytogénétique (UPMC-EA 1533), Hôpital Tenon (AP-HP), 75020 Paris, France.

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http://linkinghub.elsevier.com/retrieve/pii/S000339950400005
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http://dx.doi.org/10.1016/j.anngen.2004.02.003DOI Listing
October 2004

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

Fetal Diagn Ther 2003 Mar-Apr;18(2):111-3

Service d'Histologie, Biologie de la Reproduction et Cytogénétique, Hôpital Tenon et Laboratoire de Cytologie Histologie, Centre Universitaire des Saints-Pères, Paris, France.

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http://dx.doi.org/10.1159/000068071DOI Listing
September 2003

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

Acta Cytol 2002 Nov-Dec;46(6):1123-8

Department of Histology, Biology of Reproduction and Cytogenetics, Tenon Hospital, 4 Rue de la Chine, 75020 Paris, France.

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http://dx.doi.org/10.1159/000327118DOI Listing
December 2002