Pascale Saugier: search on Z-Library

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1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of sylvius sequence using closely linked DNA markers

Françoise Serville, Paule Benit, Pascale Saugier, Mireille Vibert, Ghislaine Royer, Anna Pelet, Michèle Chery, Arnold Munnich, Stanislas Lyonnet

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 333 KB

english, 1993

11

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

12

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

13

Large CACNA1A Deletion in a Family With Episodic Ataxia Type 2

Riant, Florence, Mourtada, Reda, Saugier-Veber, Pascale, Tournier-Lasserve, Elisabeth

Journal:

Archives of Neurology

Year:

2008

Language:

english

File:

PDF, 123 KB

english, 2008

14

Genetic Compensation in a Human Genomic Disorder

Carelle-Calmels, Nadège, Saugier-Veber, Pascale, Girard-Lemaire, Françoise, Rudolf, Gabrielle, Doray, Bérénice, Guérin, Eric, Kuhn, Pierre, Arrivé, Mathilde, Gilch, Catherine, Schmitt, Evelyne, Fehren

Journal:

Boston Medical and Surgical Journal

Year:

2009

Language:

english

File:

PDF, 510 KB

english, 2009

15

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

Bertrand Ségues, Pascale Saugier Veber, Daniel Rabier, Patrick Calvas, Jean-Marie Saudubray, Brigitte Gilbert-Dussardier, Jean-Paul Bonnefont, Arnold Munnich

Journal:

Year:

1996

Language:

english

File:

PDF, 226 KB

english, 1996

16

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

17

Keratopathy in Autoimmune Polyendocrinopathy Syndrome Type 1

Couturier, Aude, Saugier-Veber, Pascale, Carel, Jean-Claude, Bertherat, Jérôme, Brézin, Antoine P.

Journal:

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

18

Hydrocephalus due to multiple ependymal malformations is caused by mutations in theMPDZgene

Pascale Saugier-Veber,Florent Marguet…

Journal:

Acta Neuropathologica Communications

Year:

2017

Language:

english

File:

PDF, 3.89 MB

english, 2017

19

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

20

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

Yang, Junning, Simonneau, Claire, Kilker, Robert, Oakley, Laura, Byrne, Matthew D, Nichtova, Zuzana, Stefanescu, Ioana, Pardeep‐Kumar, Fnu, Tripathi, Sushil, Londin, Eric, Saugier‐Veber, Pascale, Will

Journal:

EMBO Molecular Medicine

Year:

2018

Language:

english

File:

PDF, 6.07 MB

english, 2018

21

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

22

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

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

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

25

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

26

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

27

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

Corral, Edgardo, Barrios, Andres, Isnard, Monica, Saugier-Veber, Pascale, Fortier, Sophie M., Durrin, Sarah, Sepulveda, Waldo

Journal:

Case Reports in Obstetrics and Gynecology

Year:

2015

Language:

english

File:

PDF, 2.67 MB

english, 2015

28

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

29

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

30

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

31

Development, analytical validation and implementation of a next generation sequencing panel to assess lysosomal diseases

Bekri, Soumeya, Sudrié-Arnaud, Bénédicte, Charbonnier, Françoise, Dranguet, Hélène, Coutant, Sophie, Vezain, Myriam, Lanos, Raphaël, Tournier, Isabelle, Saugier-Veber, Pascale

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 50 KB

english, 2017

32

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

33

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

34

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

35

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

36

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

37

Factor V Cambridge mutation and activated protein C resistance assays

Le Cam-Duchez, Véronique, Chrétien, Marie-Hélène, Saugier-Veber, Pascale, Borg, Jeanne-Yvonne

Journal:

Thrombosis and Haemostasis

Year:

2006

Language:

english

File:

PDF, 190 KB

english, 2006

38

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

39

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

40

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

41

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

42

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

43

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1

Rousseau, Francis, Saugier, Pascale, Merrer, Martine Le, Munnich, Arnold, Delezoide, Anne-Lise, Maroteaux, Pierre, Bonaventure, Jacky, Narcy, Françoise, Sanak, Marek

Journal:

Nature Genetics

Year:

1995

File:

PDF, 394 KB

1995

44

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

45

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

46

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

47

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

48

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

49

Les retards mentaux d’origine génétique

Pascale Saugier-Veber

Journal:

Year:

2003

File:

PDF, 1.41 MB

2003

50

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

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