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Items: 1 to 50 of 90

1.

A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.

Cassinari K, Quenez O, Joly-Hélas G, Beaussire L, Le Meur N, Castelain M, Goldenberg A, Guerrot AM, Brehin AC, Deleuze JF, Boland A, Rovelet-Lecrux A, Campion D, Saugier-Veber P, Gruchy N, Frebourg T, Nicolas G, Sarafan-Vasseur N, Chambon P.

Clin Chem. 2019 Jul 10. pii: clinchem.2019.304246. doi: 10.1373/clinchem.2019.304246. [Epub ahead of print]

PMID:
31292136
2.

Risk Estimation of Uniparental Disomy of Chromosome 14 or 15 in a Fetus with a Parent Carrying a Non-Homologous Robertsonian Translocation. Should We Still Perform Prenatal Diagnosis?

Moradkhani K, Cuisset L, Boisseau P, Pichon O, Lebrun M, Hamdi-Rozé H, Maurin ML, Gruchy N, Manca-Pellissier MC, Malzac P, Bilan F, Audrezet MP, Saugier-Veber P, Fauret-Amsellem AL, Missirian C, Kuentz P, Egea G, Guichet A, Creveaux I, Janel C, Harzallah I, Touraine R, Goumy C, Joyé N, Puechberty J, Haquet E, Chantot-Bastaraud S, Schmitt S, Gosset P, Duban-Bedu B, Delobel B, Vago P, Vialard F, Molina Gomes D, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C.

Prenat Diagn. 2019 Jul 4. doi: 10.1002/pd.5518. [Epub ahead of print]

PMID:
31273809
3.

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.

Chatron N, Cassinari K, Quenez O, Baert-Desurmont S, Bardel C, Buisine MP, Calpena E, Capri Y, Corominas Galbany J, Diguet F, Edery P, Isidor B, Labalme A, Le Caignec C, Lévy J, Lecoquierre F, Lindenbaum P, Pichon O, Rollat-Farnier PA, Simonet T, Saugier-Veber P, Tabet AC, Toutain A, Wilkie AOM, Lesca G, Sanlaville D, Nicolas G, Schluth-Bolard C.

Hum Mutat. 2019 Jun 23. doi: 10.1002/humu.23845. [Epub ahead of print]

PMID:
31230393
4.

Searching for secondary findings: considering actionability and preserving the right not to know.

Isidor B, Julia S, Saugier-Veber P, Weil-Dubuc PL, Bézieau S, Bieth E, Bonnefont JP, Munnich A, Bourdeaut F, Bourgain C, Chassaing N, Corradini N, Haye D, Plaisancie J, Dupin-Deguine D, Calvas P, Mignot C, Cogné B, Manouvrier S, Pasquier L, Héron D, Boycott KM, Turrini M, Vears DF, Nizon M, Vincent M.

Eur J Hum Genet. 2019 Jun 11. doi: 10.1038/s41431-019-0438-x. [Epub ahead of print] Review. No abstract available.

PMID:
31186543
5.

Significant contribution of intragenic deletions to ARID1B mutation spectrum.

Gorokhova S, Mortreux J, Afenjar A, Attie-Bitach T, Blanluet M, Cormier-Daire V, Guerrot AM, Lebre AS, Malan V, Nicolas G, Rondeau S, Philip N, Saugier-Veber P, Badens C, Missirian C.

Genet Med. 2019 May 20. doi: 10.1038/s41436-019-0546-6. [Epub ahead of print] No abstract available.

PMID:
31105273
6.

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

Lehalle D, Altunoglu U, Bruel AL, Assoum M, Duffourd Y, Masurel A, Baujat G, Bessieres B, Captier G, Edery P, Elçioğlu NH, Geneviève D, Goldenberg A, Héron D, Grotto S, Marlin S, Putoux A, Rossi M, Saugier-Veber P, Triau S, Cabrol C, Vézain M, Vincent-Delorme C, Thauvin-Robinet C, Thevenon J, Vabres P, Callier P, Kayserili H, Faivre L.

Am J Med Genet A. 2018 Dec;176(12):2740-2750. doi: 10.1002/ajmg.a.40662. Epub 2018 Dec 10.

PMID:
30548201
7.

Murine MPDZ-linked hydrocephalus is caused by hyperpermeability of the choroid plexus.

Yang J, Simonneau C, Kilker R, Oakley L, Byrne MD, Nichtova Z, Stefanescu I, Pardeep-Kumar F, Tripathi S, Londin E, Saugier-Veber P, Willard B, Thakur M, Pickup S, Ishikawa H, Schroten H, Smeyne R, Horowitz A.

EMBO Mol Med. 2019 Jan;11(1). pii: e9540. doi: 10.15252/emmm.201809540.

8.

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.

Vezain M, Lecuyer M, Rubio M, Dupé V, Ratié L, David V, Pasquier L, Odent S, Coutant S, Tournier I, Trestard L, Adle-Biassette H, Vivien D, Frébourg T, Gonzalez BJ, Laquerrière A, Saugier-Veber P.

Acta Neuropathol Commun. 2018 Oct 19;6(1):109. doi: 10.1186/s40478-018-0610-5.

9.

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G.

Clin Genet. 2018 Jul;94(1):141-152. doi: 10.1111/cge.13254. Epub 2018 May 17.

PMID:
29574747
10.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J.

Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6.

PMID:
29511999
11.

Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum.

Folliot-Le Doussal L, Chadie A, Brasseur-Daudruy M, Verspyck E, Saugier-Veber P, Marret S; Perinatal Network of Haute-Normandie.

Early Hum Dev. 2018 Jan;116:9-16. doi: 10.1016/j.earlhumdev.2017.10.004. Epub 2017 Nov 5.

PMID:
29091783
12.

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Gaildrat P, Lebbah S, Tebani A, Sudrié-Arnaud B, Tostivint I, Bollee G, Tubeuf H, Charles T, Bertholet-Thomas A, Goldenberg A, Barbey F, Martins A, Saugier-Veber P, Frébourg T, Knebelmann B, Bekri S.

Mol Genet Genomic Med. 2017 May 16;5(4):373-389. doi: 10.1002/mgg3.294. eCollection 2017 Jul.

13.

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

Saugier-Veber P, Marguet F, Lecoquierre F, Adle-Biassette H, Guimiot F, Cipriani S, Patrier S, Brasseur-Daudruy M, Goldenberg A, Layet V, Capri Y, Gérard M, Frébourg T, Laquerrière A.

Acta Neuropathol Commun. 2017 May 1;5(1):36. doi: 10.1186/s40478-017-0438-4.

14.

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

Grotto S, Cuisset JM, Marret S, Drunat S, Faure P, Audebert-Bellanger S, Desguerre I, Flurin V, Grebille AG, Guerrot AM, Journel H, Morin G, Plessis G, Renolleau S, Roume J, Simon-Bouy B, Touraine R, Willems M, Frébourg T, Verspyck E, Saugier-Veber P.

J Neuromuscul Dis. 2016 Nov 29;3(4):487-495.

PMID:
27911332
15.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L.

Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16.

PMID:
27761913
16.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N.

Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8.

PMID:
27605097
17.

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.

Tlemsani C, Luscan A, Leulliot N, Bieth E, Afenjar A, Baujat G, Doco-Fenzy M, Goldenberg A, Lacombe D, Lambert L, Odent S, Pasche J, Sigaudy S, Buffet A, Violle-Poirsier C, Briand-Suleau A, Laurendeau I, Chin M, Saugier-Veber P, Vidaud D, Cormier-Daire V, Vidaud M, Pasmant E, Burglen L.

J Med Genet. 2016 Nov;53(11):743-751. doi: 10.1136/jmedgenet-2015-103638. Epub 2016 Jun 17.

PMID:
27317772
18.

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Rivière JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T.

Eur J Hum Genet. 2016 Jun;24(6):838-43. doi: 10.1038/ejhg.2015.211. Epub 2015 Sep 23.

19.

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.

Nambot S, Masurel A, El Chehadeh S, Mosca-Boidron AL, Thauvin-Robinet C, Lefebvre M, Marle N, Thevenon J, Perez-Martin S, Dulieu V, Huet F, Plessis G, Andrieux J, Jouk PS, Billy-Lopez G, Coutton C, Morice-Picard F, Delrue MA, Heron D, Rooryck C, Goldenberg A, Saugier-Veber P, Joly-Hélas G, Calenda P, Kuentz P, Manouvrier-Hanu S, Dupuis-Girod S, Callier P, Faivre L.

Eur J Hum Genet. 2016 Jun;24(6):830-7. doi: 10.1038/ejhg.2015.202. Epub 2015 Sep 23.

20.

Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1.

Dubucquoi S, Proust-Lemoine E, Kemp EH, Ryndak A, Lefèvre-Dutoit V, Bellart M, Saugier-Véber P, Duban-Deweer S, Wémeau JL, Prin L, Lefranc D.

Autoimmunity. 2015;48(8):532-41. doi: 10.3109/08916934.2015.1077230. Epub 2015 Aug 27.

21.

Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1.

Couturier A, Saugier-Veber P, Carel JC, Bertherat J, Brézin AP.

Cornea. 2015 Sep;34(9):1086-91. doi: 10.1097/ICO.0000000000000513.

PMID:
26114819
22.

Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies.

Corral E, Barrios A, Isnard M, Saugier-Veber P, Fortier SM, Durrin S, Sepulveda W.

Case Rep Obstet Gynecol. 2015;2015:561713. doi: 10.1155/2015/561713. Epub 2015 May 20.

23.

[The challenge for dermatologists of early APECED diagnosis].

Puzenat E, Bellaud G, Saugier-Veber P, Crémillieux C, Mignot B, Humbert P, Aubin F.

Ann Dermatol Venereol. 2014 Apr;141(4):290-4. doi: 10.1016/j.annder.2014.01.012. Epub 2014 Feb 18. French.

PMID:
24703644
24.

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Grotto S, Drouin-Garraud V, Ounap K, Puusepp-Benazzouz H, Schuurs-Hoeijmakers J, Le Meur N, Chambon P, Fehrenbach S, van Bokhoven H, Frébourg T, de Brouwer AP, Saugier-Veber P.

Eur J Med Genet. 2014 Apr;57(5):200-6. doi: 10.1016/j.ejmg.2013.12.012. Epub 2014 Jan 22.

PMID:
24462886
25.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J.

Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6.

PMID:
24319099
26.

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H.

J Neurol. 2014 Jan;261(1):152-63. doi: 10.1007/s00415-013-7154-1. Epub 2013 Oct 27.

PMID:
24162038
27.

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.

Tordjman S, Anderson GM, Cohen D, Kermarrec S, Carlier M, Touitou Y, Saugier-Veber P, Lagneaux C, Chevreuil C, Verloes A.

Mol Autism. 2013 Aug 23;4(1):29. doi: 10.1186/2040-2392-4-29.

28.

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.

Adle-Biassette H, Saugier-Veber P, Fallet-Bianco C, Delezoide AL, Razavi F, Drouot N, Bazin A, Beaufrère AM, Bessières B, Blesson S, Bucourt M, Carles D, Devisme L, Dijoud F, Fabre B, Fernandez C, Gaillard D, Gonzales M, Jossic F, Joubert M, Laurent N, Leroy B, Loeuillet L, Loget P, Marcorelles P, Martinovic J, Perez MJ, Satge D, Sinico M, Tosi M, Benichou J, Gressens P, Frebourg T, Laquerrière A.

Acta Neuropathol. 2013 Sep;126(3):427-42. doi: 10.1007/s00401-013-1146-1. Epub 2013 Jul 3.

PMID:
23820807
29.

Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation.

Crahes M, Saugier-Veber P, Patrier S, Aziz M, Pirot N, Brasseur-Daudruy M, Layet V, Frébourg T, Laquerrière A.

Eur J Med Genet. 2013 Jul;56(7):365-70. doi: 10.1016/j.ejmg.2013.04.004. Epub 2013 May 2.

PMID:
23643676
30.

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.

Riant F, Cecillon M, Saugier-Veber P, Tournier-Lasserve E.

Neurogenetics. 2013 May;14(2):133-41. doi: 10.1007/s10048-013-0362-0. Epub 2013 Apr 18.

PMID:
23595507
31.

Polyglandular autoimmune syndrome type I.

Proust-Lemoine E, Saugier-Veber P, Wémeau JL.

Presse Med. 2012 Dec;41(12 P 2):e651-62. doi: 10.1016/j.lpm.2012.10.005. Epub 2012 Nov 23. Review.

PMID:
23182677
32.

Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.

Thauvin-Robinet C, Drunat S, Saugier Veber P, Chantereau D, Cossée M, Cassini C, Soichot P, Masurel-Paulet A, De Monléon JV, Sagot P, Huet F, Antin M, Calmels N, Faivre L, Gérard B; “réseau français de génétique moléculaire”.

Am J Med Genet A. 2012 Jul;158A(7):1735-41. doi: 10.1002/ajmg.a.35402. Epub 2012 Jun 7.

PMID:
22678974
33.

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.

Tordjman S, Anderson GM, Botbol M, Toutain A, Sarda P, Carlier M, Saugier-Veber P, Baumann C, Cohen D, Lagneaux C, Tabet AC, Verloes A.

PLoS One. 2012;7(3):e30778. doi: 10.1371/journal.pone.0030778. Epub 2012 Mar 6.

34.

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.

Marx M, Diestel S, Bozon M, Keglowich L, Drouot N, Bouché E, Frebourg T, Minz M, Saugier-Veber P, Castellani V, Schäfer MK.

Neurogenetics. 2012 Feb;13(1):49-59. doi: 10.1007/s10048-011-0307-4. Epub 2012 Jan 6.

PMID:
22222883
35.

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

Ouesleti S, Brunel V, Ben Turkia H, Dranguet H, Miled A, Miladi N, Ben Dridi MF, Lavoinne A, Saugier-Veber P, Bekri S.

Clin Chim Acta. 2011 Nov 20;412(23-24):2326-31. doi: 10.1016/j.cca.2011.08.032. Epub 2011 Sep 2.

PMID:
21910976
36.

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

Ghoumid J, Andrieux J, Sablonnière B, Odent S, Philippe N, Zanlonghi X, Saugier-Veber P, Bardyn T, Manouvrier-Hanu S, Holder-Espinasse M.

Eur J Hum Genet. 2011 Nov;19(11):1198-201. doi: 10.1038/ejhg.2011.95. Epub 2011 Jun 8.

37.

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.

Houeijeh A, Andrieux J, Saugier-Veber P, David A, Goldenberg A, Bonneau D, Fouassier M, Journel H, Martinovic J, Escande F, Devisme L, Bisiaux S, Chaffiotte C, Baux M, Kerckaert JP, Holder-Espinasse M, Manouvrier-Hanu S.

Eur J Med Genet. 2011 Sep-Oct;54(5):e471-7. doi: 10.1016/j.ejmg.2011.05.001. Epub 2011 May 13.

PMID:
21635976
38.

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.

Vezain M, Gérard B, Drunat S, Funalot B, Fehrenbach S, N'Guyen-Viet V, Vallat JM, Frébourg T, Tosi M, Martins A, Saugier-Veber P.

Hum Mutat. 2011 Sep;32(9):989-94. doi: 10.1002/humu.21528.

PMID:
21542063
39.

Development of a nonfluorescent multiplex semiquantitative polymerase chain reaction to confirm rearrangements detected by array-comparative genomic hybridization.

Huin V, Drouot N, Chambon P, Le Meur N, Frébourg T, Tosi M, Saugier-Veber P.

Genet Test Mol Biomarkers. 2011 Jul-Aug;15(7-8):469-74. doi: 10.1089/gtmb.2010.0144. Epub 2011 Mar 17.

PMID:
21413874
40.

Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.

Wallon D, Guyant-Maréchal L, Laquerrière A, Wevers RA, Martinaud O, Kluijtmans LA, Yntema HG, Saugier-Veber P, Hannequin D.

Clin Neuropathol. 2010 Nov-Dec;29(6):361-4.

PMID:
21073839
41.

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.

Friocourt G, Marcorelles P, Saugier-Veber P, Quille ML, Marret S, Laquerrière A.

Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768-9. Epub 2010 Nov 3. Review.

42.

[Autoimmune polyendocrine syndrome type 1].

Proust-Lemoine E, Saugier-Veber P, Lefebvre H, Lefranc D, Prin L, Weill J, Carel JC, Wemeau JL.

Arch Pediatr. 2010 Jun;17(6):597-8. doi: 10.1016/S0929-693X(10)70015-4. French. No abstract available.

PMID:
20654797
43.

Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.

Marcorelles P, Laquerrière A, Adde-Michel C, Marret S, Saugier-Veber P, Beldjord C, Friocourt G.

Acta Neuropathol. 2010 Oct;120(4):503-15. doi: 10.1007/s00401-010-0692-z. Epub 2010 May 12.

PMID:
20461390
44.

Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies.

Proust-Lemoine E, Saugier-Véber P, Lefranc D, Dubucquoi S, Ryndak A, Buob D, Lalau JD, Desailloud R, Weill J, Prin L, Lefebvre H, Wémeau JL.

Horm Res Paediatr. 2010;74(4):275-84. doi: 10.1159/000297714. Epub 2010 May 7.

PMID:
20453472
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Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.

Saugier-Veber P, Doummar D, Barthez MA, Czernecki V, Drouot N, Apartis E, Bürglen L, Frebourg T, Roze E.

Am J Med Genet A. 2010 May;152A(5):1244-9. doi: 10.1002/ajmg.a.33369.

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Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.

Lecourtois M, Poirier K, Friocourt G, Jaglin X, Goldenberg A, Saugier-Veber P, Chelly J, Laquerrière A.

Acta Neuropathol. 2010 Jun;119(6):779-89. doi: 10.1007/s00401-010-0684-z. Epub 2010 Apr 8.

PMID:
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A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.

Vezain M, Saugier-Veber P, Goina E, Touraine R, Manel V, Toutain A, Fehrenbach S, Frébourg T, Pagani F, Tosi M, Martins A.

Hum Mutat. 2010 Jan;31(1):E1110-25. doi: 10.1002/humu.21173.

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[Genetics of mental retardation].

Goldenberg A, Saugier-Veber P.

Pathol Biol (Paris). 2010 Oct;58(5):331-42. doi: 10.1016/j.patbio.2009.09.013. Epub 2009 Nov 25. Review. French.

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Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?

Edouard T, Prost-Squarcioni C, Dulac Y, Vaysse F, Cavé H, Saugier-Veber P, Bourrouillou G, Verloes A, Tauber M, Bieth E.

Eur J Med Genet. 2010 Jan-Feb;53(1):29-34. doi: 10.1016/j.ejmg.2009.11.002. Epub 2009 Nov 20.

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

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, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D.

Arch Gen Psychiatry. 2009 Sep;66(9):947-56. doi: 10.1001/archgenpsychiatry.2009.80. Review.

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