M. Zabot

发表

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.

Charlotte N. Henrichsen, C. Howald, A. Reymond, 2006, American journal of human genetics.

DNA double-strand breaks induced by mammographic screening procedures in human mammary epithelial cells

Muriel Rabilloud, Marie-Thérèse Zabot, Nicolas Foray, 2011, International journal of radiation biology.

A Pharmacodynamic Model of Ganciclovir Antiviral Effect and Toxicity for Lymphoblastoid Cells Suggests a New Dosing Regimen To Treat Cytomegalovirus Infection

M. Zabot, I. Rouvet, M. Tod, 2012, Antimicrobial Agents and Chemotherapy.

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

Y. Anikster, A. Ribes, E. Christensen, 1995, American journal of human genetics.

Concentration of 14 steroid hormones in human amniotic fluid of midpregnancy.

M. Forest, M. Zabot, J. Thoulon, 1980, The Journal of clinical endocrinology and metabolism.

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

W. Sly, R. Vervoort, W. Lissens, 1996, American Journal of Human Genetics.

Bisphenol A differentially affects male reproductive function biomarkers in a reference population and agro pesticides users from Djutitsa, Cameroon

C. Harthé, M. Zabot, M. Pugeat, 2019, Toxicology and industrial health.

Differential Effect of DCA Treatment on the Pyruvate Dehydrogenase Complex in Patients with Severe PDHC Deficiency

M. Brivet, F. Fouque, M. Zabot, 2003, Pediatric Research.

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

S. Seneca, G. Ponsot, W. Lissens, 1997, Human Genetics.

Adult neuronal ceroid lipofuscinosis with palmitoyl‐protein thioesterase deficiency: First adult‐onset patients of a childhood disease

C. Tilikete, P. Taschner, S. Thobois, 2001, Annals of neurology.

Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes.

J. Reymond, M. Zabot, Z. Urban, 2006, The Journal of investigative dermatology.

Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis.

C. Godinot, E. Hervouet, M. Zabot, 2004, Mitochondrion.

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

I. Nelson, R. Carlier, P. Carlier, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Molecular pathology of NEU1 gene in sialidosis

A. Pshezhetsky, R. Froissart, M. Zabot, 2003, Human mutation.

Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation

C. Preudhomme, X. Thomas, Y. Bertrand, 2009, Leukemia.

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

Protective effect of Basella alba and Carpolobia alba extracts against maneb-induced male infertility

M. Zabot, M. Pugeat, H. Déchaud, 2014, Pharmaceutical biology.

Mitochondrial Acetoacetyl-CoA Thiolase (T2) Deficiency: T2-Deficient Patients with “Mild” Mutation(s) Were Previously Misinterpreted as Normal by the Coupled Assay with Tiglyl-CoA

M. Rolland, T. Fukao, N. Kondo, 2004, Pediatric Research.

Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

J. Sass, T. Fukao, N. Kondo, 2011, Biochimica et biophysica acta.

Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A

J. Reiss, E. Christensen, G. Kurlemann, 1998, Human Genetics.

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

T. Dierks, H. Mandel, J. Reiss, 1998, Nature Genetics.

Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients

C. Kisker, K. Rajagopalan, R. Garrett, 2002, Human mutation.

Effect of agropesticides use on male reproductive function: A study on farmers in Djutitsa (Cameroon)

M. Zabot, M. Pugeat, H. Déchaud, 2012, Environmental toxicology.

Effect of Duration and Intensity of Ganciclovir Exposure on Lymphoblastoid Cell Toxicity

Y. Bertrand, M. Zabot, I. Rouvet, 2009, Antiviral chemistry & chemotherapy.

Molecular Pathology of NEU 1 Gene in Sialidosis

A. Pshezhetsky, R. Froissart, M. Zabot, 2003 .

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.

D. Bozon, J. Taanman, B. Mousson de Camaret, 2007, The Biochemical journal.

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.

E. Shoubridge, B. Echenne, J. Yao, 2000 .

Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome

Sven Bergmann, Gábor Csárdi, Alexandre Reymond, 2011, PLoS Comput. Biol..

Interleukin 4 inhibits in vitro proliferation of leukemic and normal human B cell precursors.

J. Banchereau, N. Philippe, M. Zabot, 1992, The Journal of clinical investigation.

Cerebral dysgenesis does not exclude OFD I syndrome

L. Faivre, C. Thauvin-Robinet, B. Franco, 2011, American journal of medical genetics. Part A.

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

David J. Chen, M. van der Burg, L. Notarangelo, 2015, The Journal of allergy and clinical immunology.

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.

Bohdan Waszkowycz, Leslie G Biesecker, Natalie Stephenson, 2013, Arthritis and rheumatism.

Culture of putative Langerhans cell bone marrow precursors: characterization of their phenotype.

D. Schmitt, M. Zabot, J. Thivolet, 1988, Experimental hematology.

POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

F. Rivier, D. Bozon, V. des Portes, 2011, Mitochondrion.

Influence of Nucleoshuttling of the ATM Protein in the Healthy Tissues Response to Radiation Therapy: Toward a Molecular Classification of Human Radiosensitivity.

J. Bourhis, D. Stoppa-Lyonnet, A. Puisieux, 2016, International journal of radiation oncology, biology, physics.

A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.

M. Rolland, T. Fukao, N. Kondo, 2006, Molecular genetics and metabolism.

Elastin Gene Deletions in Williams Syndrome Patients Result in Altered Deposition of Elastic Fibers in Skin and a Subclinical Dermal Phenotype

M. Lebwohl, K. Csiszȧr, H. Plauchu, 2000, Pediatric dermatology.

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

E. Shoubridge, B. Echenne, J. Yao, 2000, Human Genetics.

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele.

M. Gross, G. Jondeau, L. Gouya, 2015, Human molecular genetics.

Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis

S. Vukusic, C. Confavreux, O. Boespflug-Tanguy, 2012, Journal of Neurology.

Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping.

H. Mandel, M. Berant, J. Reiss, 1998, American journal of human genetics.

Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B.

J. Reiss, R. Mendel, N. Cohen, 1999, American journal of human genetics.

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.

S. Seneca, L. de Meirleir, G. Ponsot, 1997, Human genetics.

Clinical expression of Menkes disease in females with normal karyotype

Z. Tümer, T. Jensen, S. Janssens, 2012, Orphanet Journal of Rare Diseases.

Four novel mutations at the cystathionine β-synthase locus causing homocystinuria

P. Kamoun, B. Chadefaux-Vekemans, M. Coudé, 1998, Journal of Inherited Metabolic Disease.

X-Linked Recessive Ichthyosis

M. Zabot, I. Maire, Monique Piruad, 1989 .

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

M. Nicolino, M. Till, D. Sanlaville, 2009, American journal of medical genetics. Part A.

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.

P. Divry, C. Roe, C. Vianey‐Saban, 1998, Clinica chimica acta; international journal of clinical chemistry.

Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

M. Rolland, T. Fukao, N. Kondo, 2007, Molecular genetics and metabolism.

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

H. Mandel, J. Reiss, N. Cohen, 2000, Prenatal diagnosis.

In vitro Toxic Effects of Certain Antibiotics on the Fibroblasts of Two Children with I-Cell Disease

M. Zabot, G. Souillet, C. Dumontel, 1998, Cell Biology and Toxicology.

Two novel mutations (K384E and L539S) in the C‐terminal moiety of the cystathionine β‐synthase protein in two French pyridoxine‐responsive homocystinuria patients

P. Kamoun, B. Chadefaux-Vekemans, B. Aral, 1997, Human mutation.

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.

C. Vianey‐Saban, M. Zabot, C. Largillière, 1993, Biochimica et biophysica acta.

Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.

Jonathan E. Dickerson, P. Gaffney, L. Biesecker, 2013, Arthritis and rheumatism.

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

K. Kristiansen, P. Bross, B. Andresen, 1996, Human molecular genetics.

Cerebral dysgenesis does not exclude OFD I syndrome

L. Faivre, C. Thauvin-Robinet, B. Franco, 2011, American journal of medical genetics. Part A.

Influence of Nucleoshuttling of the ATM Protein in the Healthy Tissues Response to Radiation Therapy: Toward a Molecular Classification of Human Radiosensitivity.

J. Bourhis, D. Stoppa-Lyonnet, A. Puisieux, 2016, International journal of radiation oncology, biology, physics.