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1

Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome

Pascale Saugier-Veber, Céline Bonnet, Alexandra Afenjar, Valérie Drouin-Garraud, Christine Coubes, Séverine Fehrenbach, Muriel Holder-Espinasse, Joëlle Roume, Valérie Malan, Marie-France Portnoi, Nico

Journal:

Year:

2007

Language:

english

File:

PDF, 354 KB

english, 2007

2

Cardiac conduction alterations in a French family with amyloidosis of the finnish type with the p.Asp187Tyr mutation in the GSN gene

Nathalie Chastan, Stéphanie Baert-Desurmont, Pascale Saugier-Veber, Geneviève Dérumeaux, Annick Cabot, Thierry Frébourg, Didier Hannequin

Journal:

Year:

2006

Language:

english

File:

PDF, 1.05 MB

english, 2006

3

Myoclonus in fraternal twin toddlers: A French family with a novel mutation in the SGCE gene

Susanne Thümmler, Fabienne Giuliano, Olivier Pincemaille, Pascale Saugier-Veber, Serge Perelman

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 148 KB

english, 2009

4

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

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

Journal:

Clinica Chimica Acta

Year:

2011

Language:

english

File:

PDF, 386 KB

english, 2011

5

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

Tordjman, Sylvie, Anderson, George M, Cohen, David, Kermarrec, Solenn, Carlier, Michèle, Touitou, Yvan, Saugier-Veber, Pascale, Lagneaux, Céline, Chevreuil, Claire, Verloes, Alain

Journal:

Molecular Autism

Year:

2013

Language:

english

File:

PDF, 232 KB

english, 2013

6

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

Riant, Florence, Cecillon, Michaelle, Saugier-Veber, Pascale, Tournier-Lasserve, Elisabeth

Journal:

Year:

2013

Language:

english

File:

PDF, 178 KB

english, 2013

7

Retards mentaux d'origine génétique

Goldenberg, A., Saugier-Veber, P.

Journal:

EMC - Psychiatrie

Year:

2006

Language:

french

File:

PDF, 452 KB

french, 2006

8

Neurodevelopmental outcome in prenatally diagnosed isolated agenesis of the corpus callosum

Folliot-Le Doussal, Lise, Chadie, Alexandra, Brasseur-Daudruy, Marie, Verspyck, Eric, Saugier-Veber, Pascale, Marret, Stéphane

Journal:

Early Human Development

Year:

2018

Language:

english

File:

PDF, 518 KB

english, 2018

9

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

Isidor, Bertrand, Julia, Sophie, Saugier-Veber, Pascale, Weil-Dubuc, Paul-Loup, Bézieau, Stéphane, Bieth, Eric, Bonnefont, Jean-Paul, Munnich, Arnold, Bourdeaut, Franck, Bourgain, Catherine, Chassaing

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 595 KB

english, 2019

10

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis

Pascale Saugier-Veber, Cosette Martin, Nathalie Le Meur, Stanislas Lyonnet, Arnold Munnich, Albert David, Alain Hénocq, Delphine Héron, Philippe Jonveaux, Sylvie Odent, Sylvie Manouvrier, Anne Moncla,

Journal:

Year:

1998

Language:

english

File:

PDF, 314 KB

english, 1998

11

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling

Valérie Drouin-Garraud, Mathilde Belgrand, Stéphanie Grünewald, Nathalie Seta, Jean-Nicolas Dacher, Alain Hénocq, Gert Matthijs, Valérie Cormier-Daire, Thierry Frébourg, Pascale Saugier-Veber

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 76 KB

english, 2001

12

Lumping Juberg–Marsidi syndrome and X-linked α-thalassemia/mental retardation syndrome?

Pascale Saugier-Veber, Arnold Munnich, Stanislas Lyonnet, Annick Toutain, Claude Moraine, Charles Piussan, Michèle Mathieu, Richard J. Gibbons

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 197 KB

english, 1995

13

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

Céline de La Rochebrochard, Géraldine Joly-Hélas, Alice Goldenberg, Isabelle Durand, Annie Laquerrière, Valentine Ickowicz, Pascale Saugier-Veber, Danièle Eurin, Hélène Moirot, Alain Diguet, Fabrice d

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 223 KB

english, 2006

14

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion

Pascale Saugier-Veber, Diane Doummar, Marie-Anne Barthez, Virginie Czernecki, Nathalie Drouot, Emmanuelle Apartis, Lydie Bürglen, Thierry Frebourg, Emmanuel Roze

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 195 KB

english, 2010

15

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findings

Dominique Bonneau, Annick Toutain, Annie Laquerrière, Stéphane Marret, Pascale Saugier-Veber, Marie-Anne Barthez, Sophie Radi, Valérie Biran-Mucignat, Diana Rodriguez, Antoinette Gélot

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 1.93 MB

english, 2002

16

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations

Olivier Clermont, Philippe Burlet, Paule Benit, Dominique Chanterau, Pascale Saugier-Veber, Arnold Munnich, Veronica Cusin

Journal:

Year:

2004

Language:

english

File:

PDF, 224 KB

english, 2004

17

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

Christel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, Bernard Aral, Nadège Gigot, Anne Donzel, Lionel Van Maldergem, Eric Bieth, Valérie Layet, Michèle Mathieu, Ahmad Teebi, James Lespinas

Journal:

Year:

2009

Language:

english

File:

PDF, 118 KB

english, 2009

18

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

Myriam Vezain, Pascale Saugier-Veber, Elisa Goina, Renaud Touraine, Véronique Manel, Annick Toutain, Séverine Fehrenbach, Thierry Frébourg, Franco Pagani, Mario Tosi, Alexandra Martins

Journal:

Year:

2010

Language:

english

File:

PDF, 405 KB

english, 2010

19

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

Myriam Vezain, Bénédicte Gérard, Séverine Drunat, Benoît Funalot, Séverine Fehrenbach, Virginie N'Guyen-Viet, Jean-Michel Vallat, Thierry Frébourg, Mario Tosi, Alexandra Martins, Pascale Saugier-Veber

Journal:

Year:

2011

Language:

english

File:

PDF, 265 KB

english, 2011

20

Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases

M. V. Senat, J. P. Bernard, A. Delezoide, P. Saugier-Veber, Y. Hillion, J. Roume, Y. Ville

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 116 KB

english, 2001

21

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia

Bertrand Segues, Jean-Michel Rozet, Brigitte Gilbert, Pascale Saugier-Veber, Daniel Rabier, Jean-Marie Saudubray, Mireille Carré, Françoise Parrot Rouleau, Alain Menget, Jean-Michel Bonardi, Stanislas

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 315 KB

english, 1995

22

Les retards mentaux d’origine génétique

Pascale Saugier-Veber

Journal:

Year:

2003

File:

PDF, 1.41 MB

2003

23

Evidence for tangential migration disturbances in human lissencephaly resulting from a defect inLIS1,DCXandARXgenes

Pascale Marcorelles, Annie Laquerrière, Christine Adde-Michel, Stéphane Marret, Pascale Saugier-Veber, Chérif Beldjord, Gaëlle Friocourt

Journal:

Acta Neuropathologica

Year:

2010

Language:

english

File:

PDF, 748 KB

english, 2010

24

Human lissencephaly with cerebellar hypoplasia due to mutations inTUBA1A: expansion of the foetal neuropathological phenotype

Magalie Lecourtois, Karine Poirier, Gaëlle Friocourt, Xavier Jaglin, Alice Goldenberg, Pascale Saugier-Veber, Jamel Chelly, Annie Laquerrière

Journal:

Acta Neuropathologica

Year:

2010

Language:

english

File:

PDF, 945 KB

english, 2010

25

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

Gaëlle Friocourt, Pascale Marcorelles, Pascale Saugier-Veber, Marie-Lise Quille, Stephane Marret, Annie Laquerrière

Journal:

Acta Neuropathologica

Year:

2011

Language:

english

File:

PDF, 1.80 MB

english, 2011

26

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

Claude Bendavid, Christèle Dubourg, Isabelle Gicquel, Laurent Pasquier, Pascale Saugier-Veber, Marie-Renée Durou, Sylvie Jaillard, Thierry Frébourg, Bassem R. Haddad, Catherine Henry, Sylvie Odent, Vé

Journal:

Year:

2006

Language:

english

File:

PDF, 341 KB

english, 2006

27

Golli-MBP Copy Number Analysis by FISH, QMPSF and MAPH in 195 Patients with Hypomyelinating Leukodystrophies

C. Vaurs-Barriere, M-N. Bonnet-Dupeyron, P. Combes, F. Gauthier-Barichard, X. T. Reveles, R. Schiffmann, E. Bertini, D. Rodriguez, P. Vago, J. A. L. Armour, P. Saugier-Veber, T. Frebourg, R. J. Leach,

Journal:

Annals of Human Genetics

Year:

2006

Language:

english

File:

PDF, 334 KB

english, 2006

28

X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

Saugier-Veber, Pascale, Munnich, Arnold, Bonneau, Dominique, Rozet, Jean-Michel, Le Merrer, Martine, Gil, Roger, Boespflug-Tanguy, Odile

Journal:

Nature Genetics

Year:

1994

File:

PDF, 565 KB

1994

29

XNP mutation in a large family with Juberg-Marsidi syndrome

Villard, Laurent, Gecz, Josef, Mattéi, Jean François, Fontés, Michel, Saugier-Veber, Pascale, Munnich, Arnold, Lyonnet, Stanislas

Journal:

Nature Genetics

Year:

1996

File:

PDF, 239 KB

1996

30

Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndrome

Meur, Nathalie Le, Martin, Cosette, Saugier-Veber, Pascale, Joly, Géraldine, Lemoine, Françoise, Moirot, Hélène, Rossi, Annick, Bachy, Bruno, Cabot, Annick, Joly, Pascal

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 109 KB

english, 2004

31

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation

Faivre, Laurence, Saugier-Veber, Pascale, Pais de Barros, Jean-Paul, Verges, Bruno, Couret, Bertrand, Lorcerie, Bernard, Thauvin, Christel, Charbonnier, Françoise, Huet, Frédéric, Gambert, Philippe

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

32

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation

Saugier-Veber, Pascale, Goldenberg, Alice, Drouin-Garraud, Valérie, de La Rochebrochard, Céline, Layet, Valérie, Drouot, Nathalie, Le Meur, Nathalie, Gilbert-Du-ssardier, Brigitte, Joly-Hélas, Géraldi

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 326 KB

english, 2006

33

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy

Vezain, Myriam, Saugier-Veber, Pascale, Melki, Judith, Toutain, Annick, Bieth, Eric, Husson, Marie, Pedespan, Jean-Michel, Viollet, Louis, Pénisson-Besnier, Isabelle, Fehrenbach, Séverine

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 255 KB

english, 2007

34

Pathomechanistic characterization of two exonicL1CAMvariants located intransin an obligate carrier of X-linked hydrocephalus

Mariola Marx, Simone Diestel, Muriel Bozon, Laura Keglowich, Nathalie Drouot, Elisabeth Bouché, Thierry Frebourg, Marie Minz, Pascale Saugier-Veber, Valérie Castellani, Michael K. E. Schäfer

Journal:

Year:

2012

Language:

english

File:

PDF, 594 KB

english, 2012

35

Structure of the human progesterone receptor gene

Micheline Misrahi, Pierre-Yves Venencie, Pascale Saugier-Veber, Sokavut Sar, Philippe Dessen, Edwin Milgrom

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1993

Language:

english

File:

PDF, 376 KB

english, 1993

36

Retards mentaux d’origine génétique

A. Goldenberg, P. Saugier-Veber

Journal:

Pathologie Biologie

Year:

2010

File:

PDF, 1.51 MB

2010

37

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

Thomas Edouard, Catherine Prost-Squarcioni, Yves Dulac, Frédéric Vaysse, Hélène Cavé, Pascale Saugier-Veber, Georges Bourrouillou, Alain Verloes, Maithé Tauber, Eric Bieth

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 774 KB

english, 2010

38

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

Ali Houeijeh, Joris Andrieux, Pascale Saugier-Veber, Albert David, Alice Goldenberg, Dominique Bonneau, Marc Fouassier, Hubert Journel, Jelana Martinovic, Fabienne Escande, Louise Devisme, Sophie Bisi

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 872 KB

english, 2011

39

Polyendocrinopathies auto-immunes de type 1

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

Journal:

Archives de Pédiatrie

Year:

2010

Language:

french

File:

PDF, 129 KB

french, 2010

40

Refined Characterization of the Expression and Stability of the SMN Gene Products

Jérémie Vitte, Coralie Fassier, Francesco D. Tiziano, Cécile Dalard, Sabrina Soave, Natacha Roblot, Christine Brahe, Pascale Saugier-Veber, Jean Paul Bonnefont, Judith Melki

Journal:

The American Journal of Pathology

Year:

2007

Language:

english

File:

PDF, 1.05 MB

english, 2007

41

Polyglandular Autoimmune Syndrome Type I

Emmanuelle Proust-Lemoine, Pascale Saugier-Veber, Jean-Louis Wémeau

Journal:

La Presse Médicale

Year:

2012

Language:

english

File:

PDF, 257 KB

english, 2012

42

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, J.D., Desailloud, R., Weill, J., Prin, L., Lefebvre, H., Wémeau, J.L.

Journal:

Hormone Research in Paediatrics

Year:

2010

Language:

english

File:

PDF, 225 KB

english, 2010

43

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

Homa Adle-Biassette, Pascale Saugier-Veber…

Journal:

Acta Neuropathologica

Year:

2013

Language:

english

File:

PDF, 954 KB

english, 2013

44

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

Ghoumid, Jamal, Andrieux, Joris, Sablonnière, Bernard, Odent, Sylvie, Philippe, Nathalie, Zanlonghi, Xavier, Saugier-Veber, Pascale, Bardyn, Thomas, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 391 KB

english, 2011

45

Diagnostic précoce du syndrome APECED : un défi pour le dermatologue

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

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2014

File:

PDF, 636 KB

2014

46

Diagnostic précoce du syndrome APECED : un challenge pour le dermatologue

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

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2012

Language:

french

File:

PDF, 87 KB

french, 2012

47

Dystrophie myotonique non DM, non DM2 avec démence fronto-temporale. Étude phénotypique et moléculaire d’une grande famille. Identification d’un locus sur le chromosome 15 (15Q21-Q24)

Leber, I., Martinez, M., Campion, D., Duyckaerts, C., Sergeant, N., Saugier-Veber, P., Hannequin, D., Laquerriere, A.

Journal:

Revue Neurologique

Year:

2005

File:

PDF, 38 KB

2005

48

Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation

Crahes, Marie, Saugier-Veber, Pascale, Patrier, Sophie, Aziz, Moutaz, Pirot, Nathalie, Brasseur-Daudruy, Marie, Layet, Valérie, Frébourg, Thierry, Laquerrière, Annie

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 3.66 MB

english, 2013

49

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Koolen, D A, Sharp, A J, Hurst, J A, Firth, H V, Knight, S J L, Goldenberg, A, Saugier-Veber, P, Pfundt, R, Vissers, L E L M, Destree, A, Grisart, B, Rooms, L, Van der Aa, N, Field, M, Hackett, A, Bel

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 3.14 MB

english, 2008

50

Development of a Nonfluorescent Multiplex Semiquantitative Polymerase Chain Reaction to Confirm Rearrangements Detected by Array-Comparative Genomic Hybridization

Huin, Vincent, Drouot, Nathalie, Chambon, Pascal, Le Meur, Nathalie, Frébourg, Thierry, Tosi, Mario, Saugier-Veber, Pascale

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2011

Language:

english

File:

PDF, 250 KB

english, 2011

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