B. Simon‐Bouy

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Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

A. Munnich, M. Gonzalès, M. Gubler, 2005, American journal of human genetics.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene

S. Mansour, S. Holder, A. Norman, 2003, Human mutation.

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

E. Génin, C. Clavel, S. Leroy, 2009, Journal of Medical Genetics.

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

S. Mehta, S. Sharif, G. Oǧur, 2006, Genetic testing.

Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes

F. Muller, J. Boué, A. Boué, 1989, Clinical genetics.

Correlations of genotype and phenotype in hypophosphatasia.

J. Gibrat, F. Muller, B. Simon‐Bouy, 1999, Human molecular genetics.

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

B. Simon‐Bouy, E. Mornet, A. Dufour, 2020, European Journal of Human Genetics.

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue‐nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia

R. Brenner, F. Muller, O. Boute, 1999 .

A molecular approach to dominance in hypophosphatasia

J. Gibrat, A. Aylsworth, E. Bieth, 2001, Human Genetics.

Hyperechogenic fetal bowel and Down syndrome. Results of a French collaborative study based on 680 prospective cases

F. Muller, B. Simon‐Bouy, 2002, Prenatal Diagnosis.

Hyperechogenic fetal bowel: an ultrasonographic marker for adverse fetal and neonatal outcome.

J. Oury, F. Muller, M. Dommergues, 1995, American journal of obstetrics and gynecology.

A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population

D. Fauvert, B. Simon‐Bouy, E. Mornet, 2011, Annals of human genetics.

Hyperechogenic fetal bowel: A large French collaborative study of 682 cases

E. Denamur, F. Muller, V. Satre, 2003, American journal of medical genetics. Part A.

Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases.

E. Girodon, N. Monnier, F. Muller, 2002, American journal of medical genetics.

Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.

E. Denamur, C. Férec, T. Bienvenu, 1998, Journal of medical genetics.

The ΔF508 mutation in mild adult forms of cystic fibrosis (CF)

J. Boué, A. Boué, B. Simon‐Bouy, 1991 .

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

A. Valéri, C. Clavel, G. Karsenty, 2013, Journal of Medical Genetics.

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

J. Siffroi, C. Turleau, D. Molina-Gomes, 1996, Clinical genetics.

Fifteen new mutations (‐195C>T, L‐12X, 298‐2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue‐nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

R. Hennekam, F. Fellmann, E. Bieth, 2000, Human mutation.

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

L. Salomon, C. Rooryck, C. Bénéteau, 2019, Prenatal diagnosis.

Carrier detection and prenatal diagnosis of cystic fibrosis using an intragenic TA-repeat polymorphism

L. Tsui, J. Zieleński, J. Boué, 1992, Human Genetics.

Consequences of prenatal diagnosis of cystic fibrosis on the reproductive attitudes of parents of affected children

F. Muller, J. Boué, A. Boué, 1991, Prenatal diagnosis.

A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein

I. Brun-Heath, B. Simon‐Bouy, E. Mornet, 2008, Human Genetics.

A polymorphic poly-A sequence in the 5′ region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11β-hydroxylase genes defects

M. Jager, F. Clot, B. Simon‐Bouy, 1994, Human Genetics.

Screening of CYP21 gene mutations in 129 French patients affected by steroid 21‐hydroxylase deficiency

M. Raux-Demay, J. Boué, A. Boué, 1995, Human Mutation.

Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

M. Schwartz, A. Balassopoulou, J. Boué, 1990, Human Genetics.

Sperm chromosome analysis in two cases of paracentric inversion.

F. Vialard, J. Selva, F. Aubriot, 2007, Fertility and sterility.

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

F. Kaper, A. Superti-Furga, R. Brenner, 1998, European Journal of Human Genetics.

Genetic analysis of adults heterozygous for ALPL mutations

C. Roux, M. Laurent, P. Guggenbuhl, 2018, Journal of Bone and Mineral Metabolism.

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

S. Mehta, D. Chitayat, A. Zankl, 2008, Prenatal diagnosis.

Fetal Anal Incontinence Evaluated by Amniotic Fluid Digestive Enzyme Assay in Myelomeningocele Spina Bifida

D. Luton, J. Oury, J. Guibourdenche, 2005, Pediatric Research.

Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non‐specific ALP gene in prenatal diagnosis of severe hypophosphatasia

J. Oury, F. Muller, I. Maire, 1999 .

Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.

B. Gérard, E. Girodon, F. Oca, 2009, Clinical chemistry.

Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene

K. Keppler-Noreuil, J. Bergoffen, R. Wallerstein, 2003, Journal of medical genetics.

Twelve novel mutations in the tissue‐nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

I. Temple, M. Bonduelle, F. Muller, 2001, Human mutation.

Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia.

J. Oury, F. Muller, I. Maire, 1999, Prenatal diagnosis.

Biologie molculaire du syndrome de l'X fragile: donnes rcentes et applications diagnostiques

B. Simon‐Bouy, E. Mornet, 1996 .

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

X. Estivill, K. Klinger, B. Kerem, 1992, Human Genetics.

[Non-invasive prenatal diagnosis: a tool for the future? Which consequences for our practices?].

B. Simon‐Bouy, E. Mornet, 2010, Gynecologie, obstetrique & fertilite.

Possible human chimera detected prenatally after in vitro fertilization: a case report.

A. Mokdad, F. Vialard, B. Simon‐Bouy, 2002, Prenatal diagnosis.

[Hyperechogenic fetal bowel: collaborative study of 682 cases].

F. Muller, B. Simon‐Bouy, 2003, Journal de gynecologie, obstetrique et biologie de la reproduction.

Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)

R. Frydman, G. Tachdjian, F. Audibert, 2002, Prenatal diagnosis.

Oncogene‐mediated propagation of tracheal epithelial cells from two cystic fibrosis fetuses with different mutations. Characterization of CFT‐1 and CFT‐2 cells in culture

P. Barbry, C. Gespach, J. Picard, 1993, European journal of clinical investigation.

Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

F. Muller, A. Delezoide, B. Simon‐Bouy, 1997, Human Genetics.

Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case report

S. Lyonnet, P. Jonveaux, B. Simon‐Bouy, 2000, Prenatal diagnosis.

Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

R. Touraine, T. Frebourg, J. Roume, 2016, Journal of neuromuscular diseases.

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

J. Millán, J. Roume, J. Salles, 2015, Molecular genetics and metabolism.

Mid–trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q)

J. Selva, D. Molina-Gomes, Y. Ville, 2006, Prenatal diagnosis.

Functional insertion of the SV40 large T oncogene in cystic fibrosis intestinal epithelium. Characterization of CFI-3 cells.

P. Barbry, C. Gespach, E. Chastre, 1991, The Journal of biological chemistry.

General Cystic Fibrosis Mutations Are Usually Missense Mutations Affecting Two Specific Protein Domains and Associated with a Specific RFLP Marker Haplotype

J. Boué, A. Boué, B. Simon‐Bouy, 1993, European journal of human genetics : EJHG.

GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS

X. Estivill, M. Farrall, R. Williamson, 1988, The Lancet.

Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome

B. Simon‐Bouy, E. Mornet, A. Taillandier, 1996, Human Genetics.

Molecular analysis of a ring chromosome X in a family with fragile X syndrome

E. Leguern, M. Mathieu, F. Thépot, 1993, Human Genetics.

Transition from Normal to Premutated Alleles in Fragile X Syndrome Results from a Multistep Process

J. Boué, A. Boué, B. Simon‐Bouy, 1994, European journal of human genetics : EJHG.

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

S. Chantot-Bastaraud, J. Siffroi, E. Pipiras, 2004, Annales de genetique.

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study

P. Chambon, L. Faivre, S. Jacquemont, 2014, Clinical genetics.

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.

R. Brenner, F. Muller, O. Boute, 1999, Human mutation.

Utility of genetic testing for prenatal presentations of hypophosphatasia.

E. Colin, A. Zankl, J. Salles, 2021, Molecular genetics and metabolism.

Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different

A. Munnich, P. Sonigo, F. Brunelle, 2004, American journal of medical genetics. Part A.

PMA 2016 / Nigeria. Performance Monitoring and Accountability 2020. Key family planning indicators.

A. Awasthi, C. Weisman, D. Elashoff, 2016 .

[Markers for trisomy 21].

B. Simon‐Bouy, 1999, Contraception, fertilite, sexualite.

The intermediate alleles of the fragile X CGG repeat in patients with mental retardation

B. Simon‐Bouy, E. Mornet, J. Serre, 1998, Clinical genetics.

Association between genetically determined pancreatic status and lung disease in adult cystic fibrosis patients.

C. Férec, P. Landais, M. Stern, 2002, Chest.

Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients

J. Boué, A. Boué, B. Simon‐Bouy, 1991, Clinical genetics.

Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO reverse dot blot.

J. Boué, A. Boué, B. Simon‐Bouy, 1991, Genomics.

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

C. Zweier, M. Villamar, M. Moreno-Pelayo, 2003 .