J. Blouin

S. Antonarakis, C. Bouras, F. Herrmann, 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Combined Pancreatic Islet-Lung-Liver Transplantation in a Pediatric Patient with Cystic Fibrosis-Related Diabetes

T. Berney, P. Soccal, J. Blouin, 2019 .

Genetic variability of the μ-opioid receptor influences intrathecal fentanyl analgesia requirements in laboring women

J. Blouin, R. Landau, R. Smiley, 2008, PAIN.

Diabetes and immune thrombocytopenic purpura: a new association with good response to anti‐CD20 therapy

M. Hauschild, M. Ansari, J. Blouin, 2015, Pediatric diabetes.

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

Marco Emilio Poleggi, S. Antonarakis, S. Gimelli, 2016, Human Genomics.

Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis.

U. C. Patel, J. Blouin, U. Radhakrishna, 1997, American journal of human genetics.

Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia.

J. Korenberg, N. Heerema, M. Bull, 1994, American journal of medical genetics.

Prostate cancer is part of the hereditary non‐polyposis colorectal cancer (HNPCC) tumor spectrum

P. Hutter, R. Fodde, J. Blouin, 2003, American journal of medical genetics. Part A.

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes

F. Santoni, M. Guipponi, J. Blouin, 2019, Pediatric diabetes.

Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity

F. Santoni, J. Blouin, N. Zaghloul, 2022, Scientific Reports.

Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically.

J. Blouin, S. Antonarakis, F. Binkert, 1994, American journal of medical genetics.

The Effect of &bgr;2-Adrenoceptor Genotype on Phenylephrine Dose Administered During Spinal Anesthesia for Cesarean Delivery

J. Blouin, R. Landau, R. Smiley, 2015, Anesthesia and analgesia.

The Effect of β 2-Adrenoceptor Genotype on Phenylephrine Dose Administered During Spinal Anesthesia for Cesarean Delivery

J. Blouin, R. Landau, R. Smiley, 2015 .

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

E. Falconnet, C. Rossier, M. D. de Santi, 2009, Journal of Medical Genetics.

Expression of human Cu-Zn superoxide dismutase gene in transgenic mice: model for gene dosage effect in Down syndrome.

A. Delacourte, G. Grimber, P. Briand, 1991, Free Radical Research Communications.

Candidate gene analysis in three families with acilia syndrome

A. Avital, H. Omran, P. Willems, 2008, American journal of medical genetics. Part A.

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with Primary Ciliary Dyskinesia (PCD)

S. Antonarakis, C. Rossier, C. Gehrig, 2000, Cytogenetic and Genome Research.

Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.

D. Rüfenacht, J. Delavelle, A. Bottani, 2007, Journal of neurosurgery.

The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103.

S. Zeinali, J. Blouin, E. Tuddenham, 1997, American journal of human genetics.

Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III.

P. Holmans, R. Straub, S. Antonarakis, 2000, American journal of human genetics.

Linkage Study of Schizophrenia Candidate Regions on Chromosomes 5 q , 6 q , 10 p , and 13 q : Schizophrenia Linkage Collaborative Group III *

M. Owen, P. Holmans, R. Straub, 2022 .

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Richard D Emes, S. Antonarakis, G. Pals, 2013, American journal of human genetics.

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Richard D Emes, S. Antonarakis, G. Pals, 2013, American journal of human genetics.

A balanced complex chromosomal rearrangement (BCCR) in a family with reproductive failure.

J. Blouin, J. Lespinasse, P. Malzac, 2003, Human reproduction.

Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

C. Stefanis, A. Chakravarti, D. Housman, 1998, Nature Genetics.

Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

S. Antonarakis, D. Avramopoulos, A. Schinzel, 1993, Nature Genetics.

Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis.

J L Blouin, O Raoul, S. Antonarakis, 1994, American journal of human genetics.

Understanding theMechanism(s) ofMosaicTrisomy21by UsingDNA Polymorphism Analysis

D. Avramopoulos, J. Blouin, M. Prieur, 1994 .

A linkage map of human chromosome 21:43 PCR markers at average intervals of 2.5 cM.

M G McInnis, T C Matise, A Chakravarti, 1993, Genomics.

Schizophrenia: a genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes.

J. Ott, D. Housman, S. Antonarakis, 1995, American journal of medical genetics.

No evidence for linkage between schizophrenia and markers at chromosome 15q13-14.

D. Housman, G. Nestadt, A. Pulver, 1999, American journal of medical genetics.

Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

A. Aurias, J. Delabar, Z. Rahmani, 1989, Proceedings of the National Academy of Sciences of the United States of America.

Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome.

S. Antonarakis, H. Lehrach, B. Korn, 1998, Genomics.

A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination.

A Gos, M A Morris, A Chakravarti, 1995, American journal of human genetics.

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder

S. Antonarakis, A. Poretti, P. Makrythanasis, 2017, Neuropediatrics.

Normal phenotype with paternal uniparental isodisomy for chromosome 21.

D. Avramopoulos, J. Blouin, C. Pangalos, 1993, American journal of human genetics.

Journal of Clinical Endocrinology and Metabolism Printed in U.S.A. Copyright © 1998 by The Endocrine Society Carney Complex, Peutz-Jeghers Syndrome, Cowden Disease, and Bannayan-Zonana Syndrome Share Cutaneous and Endocrine Manifestations, But Not Genetic

I. Tomlinson, C. Basson, C. Eng, 2022 .

An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.

J. Blouin, U. Radhakrishna, S. Antonarakis, 1996, American journal of medical genetics.

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

S. Antonarakis, S. Gimelli, Nelle Lambert, 2018, Journal of Human Genetics.

Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

J L Blouin, S. Antonarakis, G. Thomas, 1993, American journal of human genetics.

Is genetic analysis useful in the routine management of hydatidiform mole?

J. Blouin, P. Petignat, P. Vassilakos, 2003, Human reproduction.

Pre‐eclampsia and peripartum cardiomyopathy in molar pregnancy: clinical implication for maternally imprinted genes

J. Blouin, P. Petignat, P. Vassilakos, 2004, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: A complex series of events

S. Antonarakis, R. Lyle, S. Gagos, 2008, American journal of medical genetics. Part A.

Mapping the Down Syndrome Chromosome Region

D. Theophile, J. Blouin, P. Sinet, 1993, European journal of human genetics : EJHG.

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

S. Mundlos, S. Antonarakis, B. Niggemann, 2008, Human mutation.

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.

N. Guex, S. Antonarakis, C. Rossier, 1998, American journal of human genetics.

Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

S. Antonarakis, A. Bermejo-Fenoll, J. Blouin, 1997, American journal of human genetics.

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

Miguel Armengot, S. Antonarakis, M. Armengot, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21

F. Apiou, A. Aurias, J. Delabar, 1991, Human Genetics.

Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level.

J. Delabar, Z. Rahmani, D. Theophile, 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

U. C. Patel, K. Grzeschik, S. Antonarakis, 1999, American journal of human genetics.

Double frameshift mutations in APC and MSH2 in the same individual

P. Hutter, W. Foulkes, J. Blouin, 2005, International Journal of Colorectal Disease.

Split‐hand/split‐foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region

U. C. Patel, S. Antonarakis, R. Lyle, 2006, American journal of medical genetics. Part A.

Genetic Variability of μ-Opioid Receptor in an Obstetric Population

S. Antonarakis, J. Blouin, R. Landau, 2004 .

Effect of μ-Opioid Receptor A118G Polymorphism on the ED50 of Epidural Sufentanil for Labor Analgesia

J. Blouin, R. Landau, G. Capogna, 2013 .

The Effect of OPRM1 and COMT Genotypes on the Analgesic Response to Intravenous Fentanyl Labor Analgesia

J. Blouin, R. Landau, B. Carvalho, 2013, Anesthesia and analgesia.

An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2–q11.2 in a large Turkish pedigree

S. Antonarakis, H. Herken, C. Gehrig, 2001, European Journal of Human Genetics.

Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant

F. Santoni, J. Blouin, V. Schwitzgebel, 2015, Hormone Research in Paediatrics.

Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia.

P. Close, P. Rogan, J. Blouin, 1994, American journal of medical genetics.

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

E. Falconnet, P. Lackie, M. Cheeseman, 2012, Human mutation.

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

S. Antonarakis, M. Armengot, C. Gehrig, 1999, European Journal of Human Genetics.

Multiplex targeted high‐throughput sequencing for Mendelian cardiac disorders

S. Antonarakis, S. Nikolaev, L. Farinelli, 2014, Clinical genetics.

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders

S. Gimelli, A. Mauron, F. Santoni, 2016, Human Genomics.

Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3.

S. Antonarakis, H. Scott, C. Brahe, 1998, Genomics.

A narcolepsy susceptibility locus maps to a 5Mb region of chromosome 21q

S. Antonarakis, E. Neidhart, M. Tafti, 2004, Annals of neurology.

DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia

E. Falconnet, C. Rossier, M. D. de Santi, 2008, Respiration.

Co-segregation analysis and functional trial in vivo of candidate genes for monogenic diabetes

J. Blouin, R. Verkauskienė, V. Schwitzgebel, 2022, BMJ Open Diabetes Research & Care.

Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity

C. Jefford, S. Gagos, I. Irminger-Finger, 2008, Molecular Cytogenetics.

The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region.

J. Blouin, U. Radhakrishna, F. Sheth, 1997, American journal of medical genetics.

Down syndrome: a model for the study of Alzheimer’s disease and aging

J. Delabar, Z. Rahmani, Z. Chettouh, 1990 .

Gene-dosage mapping of 30 DNA markers on chromosome 21.

D. Patterson, J. Delabar, Z. Rahmani, 1992, Genomics.

Down Syndrome Critical Region Around D 21 S 55 On Proximal 21 q 22 . 3

A. Aurias, J. Delabar, Z. Rahmani, 2005 .

Down syndrome critical region around D21S55 on proximal 21q22.3.

A. Aurias, Z. Rahmani, Z. Chettouh, 2005, American journal of medical genetics. Supplement.

Slot blot method for the quantification of DNA sequences and mapping of chromosome rearrangements: application to chromosome 21.

J. Fermanian, Z. Rahmani, Z. Chettouh, 1990, American journal of human genetics.

Schizophrenia susceptibility and chromosome 6p24–22

J. Ott, D. Housman, S. Antonarakis, 1995, Nature Genetics.

Linkage and sib-pair analysis reveal a potential schizophrenia susceptibility gene on chromosome 13q32:

A. Chakravarti, D. Housman, S. Antonarakis, 1996 .

Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21.

D. Housman, S. Antonarakis, K. Chandy, 1999, American journal of medical genetics.

The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes.

D. Housman, S. Antonarakis, M. Karayiorgou, 1996, Cold Spring Harbor symposia on quantitative biology.

Cytogenetic, Molecular and FISH Analysis of an Isodicentric Chromosome 21 idic(21)(q22.3) in a Mildly-Affected Patient with Down Syndrome

S. Antonarakis, A. Multani, M. Morris, 2007 .

Pure interstitial dup(6)(q22.31q22.31) – a case report

J. Andrieux, J. Blouin, F. Sheth, 2015, Italian Journal of Pediatrics.

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

S. Antonarakis, R. Lyle, J. Sztajzel, 2008, Human mutation.

Circulating tumoral DNA: Preanalytical validation and quality control in a diagnostic laboratory.

T. Koessler, J. Blouin, T. Nouspikel, 2018, Analytical biochemistry.

Molecular mapping of the Down syndrome phenotype on chromosome 21.

J. Delabar, Z. Rahmani, D. Theophile, 1993, Progress in clinical and biological research.

Multiple mantleomas: an unusual clinical presentation of an intriguing tumour

J. Blouin, A. Piris, G. Kaya, 2014, The British journal of dermatology.

Triple-X Syndrome in a Trisomic Down Syndrome Child: Both Aneuploidies Originated from the Mother

C. Sergi, J. Blouin, F. Sheth, 2011 .

Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child.

J L Blouin, E. Roeder, C. Curry, 2000, American journal of medical genetics.

Molecular Analysis of Patients with Alzheimer's Disease

J. Delabar, Y. Lamour, Z. Rahmani, 1988 .

Precision medicine in diabetes: A non‐invasive prenatal diagnostic test for the determination of fetal glucokinase mutations

J. Puder, J. Blouin, V. Schwitzgebel, 2021, Journal of diabetes investigation.

A peripheral signature of Alzheimer’s disease featuring microbiota-gut-brain axis markers

G. Frisoni, M. Pievani, M. Marizzoni, 2023, Alzheimer's Research & Therapy.

Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor.

S. Antonarakis, J. Blouin, R. Landau, 2005, Clinical pharmacology and therapeutics.

CAD-CAM in dentistry.

F Duret, J L Blouin, J. Blouin, 1988, Journal of the American Dental Association.

Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis

R. Hà-Vinh Leuchter, M. Abramowicz, A. Vannier, 2021, Clinical genetics.

Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2.

S. Antonarakis, C. Rossier, M. Morris, 1995, Genomics.

Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage.

M. Abramowicz, J. Blouin, L. Quteineh, 2023, Clinical genetics.

The Effect of Maternal and Fetal &bgr;2-Adrenoceptor and Nitric Oxide Synthase Genotype on Vasopressor Requirement and Fetal Acid-Base Status During Spinal Anesthesia for Cesarean Delivery

W. N. Ngan Kee, J. Blouin, R. Landau, 2011, Anesthesia and analgesia.

FOXL2‐mutations in blepharophimosis‐ptosis—epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients

S. Antonarakis, J. Blouin, S. Fokstuen, 2002, American journal of medical genetics. Part A.

Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene

C. Rivolta, F. Candotti, A. Bottani, 2021, Clinical genetics.

Novel Insights from Clinical Practice

T. Berney, P. Soccal, J. Blouin, 2019 .

Genetic variability of the μ-opioid receptor influences intrathecal fentanyl analgesia requirements in laboring women

J. Blouin, R. Landau, R. Smiley, 2008, PAIN.

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

E. Falconnet, P. Lackie, M. Cheeseman, 2012, Human mutation.

Observational study of the effect of mu-opioid receptor genetic polymorphism on intrathecal opioid labor analgesia and post-cesarean delivery analgesia.

J. Blouin, R. Landau, Robert J. McCarthy, 2010, International journal of obstetric anesthesia.

Chromosome 21, Trisomy 21, and Alzheimer’s Disease

J. Delabar, J. Huret, Z. Rahmani, 1988 .

Mu-opioid receptor and binding affinity to fentanyl is affected by sex but not by A118G polymorphism: 14AP2-8

J. Blouin, R. Landau, I. Charvet, 2007 .

Next generation diagnostics on cardiomyopathy

S. Antonarakis, F. Santoni, P. Makrythanasis, 2014, Molecular Cytogenetics.