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Papers authored by Odent S

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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

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Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J,

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Human mutation 30(11):1574-82, 2009 Nov - Who cited this? | PubMed ID: 19777577 | Fulltext

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

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Roessler E, El-Jaick KB, Dubourg C, Vélez JI, Solomon BD, Pineda-Alvarez DE, Lacbawan F, Zhou N, Ouspenskaia M, Paulussen A, Smeets HJ, Hehr U, Bendavid C, Bale S, Odent S, David V,

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Human mutation 30(10):E921-35, 2009 Oct - Who cited this? | PubMed ID: 19603532 | Fulltext

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

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Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S,

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Neurology 73(12):962-9, 2009 Sep 22 - Who cited this? | PubMed ID: 19770472 | Fulltext

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

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Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C,

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Archives of general psychiatry 66(9):947-56, 2009 Sep - Who cited this? | PubMed ID: 19736351 | Fulltext

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.

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Bendavid C, Rochard L, Dubourg C, Seguin J, Gicquel I, Pasquier L, Vigneron J, Laquerrière A, Marcorelles P, Jeanne-Pasquier C, Rouleau C, Jaillard S, Mosser J, Odent S, and David V

Human mutation 30(8):1175-82, 2009 Aug - Who cited this? | PubMed ID: 19431187 | Fulltext

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

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Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P,

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Human mutation 30(7):E692-705, 2009 Jul - Who cited this? | PubMed ID: 19319978 | Fulltext

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

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Chassaing N, Golzio C, Odent S, Lequeux L, Vigouroux A, Martinovic-Bouriel J, Tiziano FD, Masini L, Piro F, Maragliano G, Delezoide AL, Attié-Bitach T, Manouvrier-Hanu S, Etchevers HC, and Calvas P

Human mutation 30(5):E673-81, 2009 May - Who cited this? | PubMed ID: 19309693 | Fulltext

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.

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Roessler E, Lacbawan F, Dubourg C, Paulussen A, Herbergs J, Hehr U, Bendavid C, Zhou N, Ouspenskaia M, Bale S, Odent S, David V, and Muenke M

Human mutation 30(4):E541-54, 2009 Apr - Who cited this? | PubMed ID: 19177455 | Fulltext

Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.

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Pasquier L, Marcorelles P, Loget P, Pelluard F, Carles D, Perez MJ, Bendavid C, de La Rochebrochard C, Ferry M, David V, Odent S, and Laquerrière A

Acta neuropathologica 117(2):185-200, 2009 Feb - Who cited this? | PubMed ID: 19057916 | Fulltext

Prenatal diagnosis of a complete sternal cleft in a child with PHACES syndrome-a case report.

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Thébault N, Le Guern H, Le Fiblec B, Ferry M, and Odent S

Prenatal diagnosis 29(2):179-81, 2009 Feb - Who cited this? | PubMed ID: 19142902 | Fulltext

Twelve new patients with 13q deletion syndrome: Genotype-phenotype analyses in progress.

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Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival JM, David V, Odent S, and Pasquier L

European journal of medical genetics 52(1):41-6, 2009 - Who cited this? | PubMed ID: 19022413 | Fulltext

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

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Yanagisawa A, Bouchet C, Quijano-Roy S, Vuillaumier-Barrot S, Clarke N, Odent S, Rodriguez D, Romero NB, Osawa M, Endo T, Lia TA, Seta N, and Guicheney P

European journal of medical genetics 52(4):201-6, 2009 - Who cited this? | PubMed ID: 19138766 | Fulltext

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

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Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H,

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European journal of medical genetics 52(5):291-6, 2009 - Who cited this? | PubMed ID: 19505601 | Fulltext

2q23.1 microdeletion identified by array-CGH: an emerging phenotype with Angelman-like features?.

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Jaillard S, Dubourg C, Gérard-Blanluet M, Delahaye A, Pasquier L, Dupont C, Henry C, Tabet AC, Lucas J, Aboura A, David V, Benzacken B, Odent S, and Pipiras E

Journal of medical genetics, 2008 Sep 23 - Who cited this? | PubMed ID: 18812405 | Fulltext

Hereditary optic neuropathies share a common mitochondrial coupling defect.

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Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Eng MF, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, Bonneau D, and Reynier P

Annals of neurology 63(6):794-8, 2008 Jun - Who cited this? | PubMed ID: 18496845 | Fulltext

[Syndromic mental retardation.].

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Odent S, Pasquier L, de la Rochebrochard C, Journel H, and Lazaro L

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 15(5):705-7, 2008 May - Who cited this? | PubMed ID: 18582721 | Fulltext

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

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Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, and Bienvenu T

Journal of medical genetics 45(3):172-8, 2008 Mar - Who cited this? | PubMed ID: 17993579 | Fulltext

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.

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Huehne K, Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sixou JL, Landrieu P, Goizet C, Sarlangue J, Baumann M, Eggermann T, Rauch A, Ruppert S, Stettner GM, and Rautenstrauss B

Neuromuscular disorders : NMD 18(2):159, 2008 Feb - Who cited this? | PubMed ID: 18077166 | Fulltext

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.

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Bendavid C, Dubourg C, Pasquier L, Gicquel I, Le Gallou S, Mottier S, Durou MR, Henry C, Odent S, and David V

Human mutation 28(12):1189, 2007 Dec - Who cited this? | PubMed ID: 17683084 | Fulltext

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

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Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A,

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Human mutation 28(11):1055-64, 2007 Nov - Who cited this? | PubMed ID: 17584854 | Fulltext

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

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Portnoï MF, Gruchy N, Marlin S, Finkel L, Denoyelle F, Dubourg C, Odent S, Siffroi JP, Le Bouc Y, and Houang M

Clinical dysmorphology 16(4):247, 2007 Oct - Who cited this? | PubMed ID: 17786116 | Fulltext

Embryology of neural tube defects: information provided by associated malformations.

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Cabaret AS, Loget P, Loeuillet L, Odent S, and Poulain P

Prenatal diagnosis 27(8):738-42, 2007 Aug - Who cited this? | PubMed ID: 17554800 | Fulltext

Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.

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Bendavid C, Pasquier L, Watrin T, Morcel K, Lucas J, Gicquel I, Dubourg C, Henry C, David V, Odent S, Levêque J, Pellerin I, and Guerrier D

European journal of medical genetics 50(1):66-72, 2007 - Who cited this? | PubMed ID: 17081814 | Fulltext

Holoprosencephaly.

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Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, and David V

Orphanet journal of rare diseases 2:8, 2007 - Who cited this? | PubMed ID: 17274816 | Fulltext

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

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Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, and Levy N

Clinical genetics 70(1):57, 2006 Jul - Who cited this? | PubMed ID: 16813605 | Fulltext

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.

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Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Shanske AL, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, and Muenke M

Journal of medical genetics 43(6):496-500, 2006 Jun - Who cited this? | PubMed ID: 16199538 | Fulltext

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

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Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M,

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Nature genetics 38(5):521-4, 2006 May - Who cited this? | PubMed ID: 16582908 | Fulltext

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.

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Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frébourg T, Haddad BR, Henry C, Odent S, and David V

Human genetics 119(1-2):1-8, 2006 Mar - Who cited this? | PubMed ID: 16323008 | Fulltext

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays.

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Pasquier L, Laugel V, Lazaro L, Dollfus H, Journel H, Edery P, Goldenberg A, Martin D, Heron D, Le Merrer M, Rustin P, Odent S, Munnich A, Sarasin A, and Cormier-Daire V

Archives of disease in childhood 91(2):178, 2006 Feb - Who cited this? | PubMed ID: 16428367 | Fulltext

Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina).

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Burel A, Mouchel T, Odent S, Tiker F, Knebelmann B, Pellerin I, and Guerrier D

Journal of negative results in biomedicine 5:4, 2006 - Who cited this? | PubMed ID: 16556301 | Fulltext

Novel TBX3 mutation data in families with Ulnar-Mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects.

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Meneghini V, Odent S, Platonova N, Egeo A, and Merlo GR

European journal of medical genetics 49(2):151-8, 2006 - Who cited this? | PubMed ID: 16530712 | Fulltext

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

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Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, Ayuso C, Odent S, Arrouet C, Verny C, Calmels MN, Simard G, Belenguer P, Wang J, Puel JL, Hamel C,

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Annals of neurology 58(6):958-63, 2005 Dec - Who cited this? | PubMed ID: 16240368 | Fulltext

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

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Marlin S, Feldmann D, Blons H, Loundon N, Rouillon I, Albert S, Chauvin P, Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H,

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Archives of otolaryngology--head & neck surgery 131(6):481-7, 2005 Jun - Who cited this? | PubMed ID: 15967879 | Fulltext

Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1.

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Amati-Bonneau P, Pasquier L, Lainey E, Ferré M, Odent S, Malthièry Y, Bonneau D, and Reynier P

Clinical genetics 67(1):102-3, 2005 Jan - Who cited this? | PubMed ID: 15617556 | Fulltext

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

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So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K,

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American journal of medical genetics. Part A 132(1):1-7, 2005 Jan 1 - Who cited this? | PubMed ID: 15558842 | Fulltext

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.

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Pasquier L, Dubourg C, Gonzales M, Lazaro L, David V, Odent S, and Encha-Razavi F

Journal of medical genetics 42(1):e4, 2005 Jan - Who cited this? | PubMed ID: 15635066 | Fulltext

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.

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Traiffort E, Dubourg C, Faure H, Rognan D, Odent S, Durou MR, David V, and Ruat M

The Journal of biological chemistry 279(41):42889-97, 2004 Oct 8 - Who cited this? | PubMed ID: 15292211 | Fulltext

Phenotypic and molecular variability of the holoprosencephalic spectrum.

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Lazaro L, Dubourg C, Pasquier L, Le Duff F, Blayau M, Durou MR, de la Pintière AT, Aguilella C, David V, and Odent S

American journal of medical genetics. Part A 129(1):21-4, 2004 Aug 15 - Who cited this? | PubMed ID: 15266610 | Fulltext

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

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Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, and David V

Human mutation 24(1):43-51, 2004 Jul - Who cited this? | PubMed ID: 15221788 | Fulltext

Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases. A population-based study.

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Bétrémieux P, Gaillot T, de la Pintière A, Beuchée A, Pasquier L, Habonimana E, Le Bouar G, Branger B, Milon J, Frémond B, Wodey E, Odent S, Poulain P, and Pladys P

Prenatal diagnosis 24(7):487-93, 2004 Jul - Who cited this? | PubMed ID: 15300735 | Fulltext

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.

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Feldmann D, Denoyelle F, Chauvin P, Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Le Maréchal C, Dollfus H, Eliot MM, Delaunoy JP,

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American journal of medical genetics. Part A 127(3):263-7, 2004 Jun 15 - Who cited this? | PubMed ID: 15150777 | Fulltext

Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.

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Garavelli L, Zanacca C, Caselli G, Banchini G, Dubourg C, David V, Odent S, Gurrieri F, and Neri G

American journal of medical genetics. Part A 127(1):93-5, 2004 May 15 - Who cited this? | PubMed ID: 15103725 | Fulltext

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.

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Pinson L, Augé J, Audollent S, Mattéi G, Etchevers H, Gigarel N, Razavi F, Lacombe D, Odent S, Le Merrer M, Amiel J, Munnich A, Meroni G, Lyonnet S, Vekemans M, and Attié-Bitach T

Journal of medical genetics 41(5):381-6, 2004 May - Who cited this? | PubMed ID: 15121778 | Fulltext

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

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Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S, and French Rendu-Osler Network

Human mutation 23(4):289-99, 2004 Apr - Who cited this? | PubMed ID: 15024723 | Fulltext

[NSD1 gene and congenital macrosomias].

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Gilgenkrantz S and Odent S

Medecine sciences : M/S 20(2):151-3, 2004 Feb - Who cited this? | PubMed ID: 14997433 | Fulltext

Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients.

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Faivre L, Cormier-Daire V, Young I, Bracq H, Finidori G, Padovani JP, Odent S, Lachman R, Munnich A, Maroteaux P, and Le Merrer M

American journal of medical genetics. Part A 124(1):54-9, 2004 Jan 1 - Who cited this? | PubMed ID: 14679587 | Fulltext

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

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Amati-Bonneau P, Odent S, Derrien C, Pasquier L, Malthiéry Y, Reynier P, and Bonneau D

American journal of ophthalmology 136(6):1170-1, 2003 Dec - Who cited this? | PubMed ID: 14644237 | Fulltext

Perinatal-lethal Gaucher disease.

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Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, Fargier P, Costil J, Josset P, Roume J, Vanier MT, Maire I,

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American journal of medical genetics. Part A 120(3):338-44, 2003 Jul 30 - Who cited this? | PubMed ID: 12838552 | Fulltext

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.

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De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B,

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American journal of medical genetics. Part A 120(2):222-8, 2003 Jul 15 - Who cited this? | PubMed ID: 12833403 | Fulltext

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

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Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L,

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Journal of medical genetics 40(6):436-40, 2003 Jun - Who cited this? | PubMed ID: 12807965 | Fulltext

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