Sylvie Manouvrier-Hanu : rechercher sur Z-Library

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1

Pre- and postnatal diagnosis of limb anomalies: A series of 107 cases

Muriel Holder-Espinasse, Louise Devisme, Dominique Thomas, Odile Boute, Pascal Vaast, Damien Fron, Bernard Herbaux, Francis Puech, Sylvie Manouvrier-Hanu

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 73 KB

english, 2004

2

Insights into genotype–phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients

Florence Petit, Jean-Marie Cuisset, Nathalie Rouaix-Emery, Claude Cancés, Bernard Sablonnière, Eric Bieth, Alexandre Moerman, Sylvie Sukno, Noah Hardy, Muriel Holder-Espinasse, Sylvie Manouvrier-Hanu,

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 190 KB

english, 2011

3

Genetics of limb anomalies in humans

Sylvie Manouvrier-Hanu, Muriel Holder-Espinasse, Stanislas Lyonnet

Journal:

Trends in Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 263 KB

english, 1999

4

Congenital Malformations of the Hand and Forearm in Children: What Radiologists Should Know

Aucourt, Julie, Budzik, Jean-François, Manouvrier-Hanu, Sylvie, Mézel, Aurélie, Cotten, Anne, Boutry, Nathalie

Journal:

Seminars in Musculoskeletal Radiology

Année:

2012

Langue:

english

Fichier:

PDF, 605 KB

english, 2012

5

The Richieri-Costa and Pereira form of acrofacial dysostosis: First case in a non-Brazilian infant

Walter-Nicolet, Elisabeth, Co�slier, Anne, Joriot, Sylvie, Kacet, Nadine, Moerman, Alexandre, Manouvrier-Hanu, Sylvie

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 202 KB

english, 1999

6

Familial hyperinsulinism with nesidioblastosis of the pancreas: Further evidence for autosomal recessive inheritance

Dr. Luis A. Moreno, Dominique Turck, Frederic Gottrand, Monique Fabre, Sylvie Manouvrier-Hanu, Jean-Pierre Farriaux

Journal:

American Journal of Medical Genetics Part A

Année:

1989

Langue:

english

Fichier:

PDF, 452 KB

english, 1989

7

Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: Study of a family

Dr. Luis A. Moreno, Frédéric Gottrand, Dominique Turck, Sylvie Manouvrier-Hanu, Françoise Mazingue, Cyril Morisot, Françoise Le Deist, Claude Ricour, Claire Nihoul-Feketé, Pierre Debeugny, Claude Gris

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 349 KB

english, 1990

8

Schinzel-Giedion syndrome and alacrima: A case first described in 1996

Sylvie Manouvrier-Hanu

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 85 KB

english, 2003

9

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

David Chitayat, Hana Sroka, Sarah Keating, Randall S. Colby, Greg Ryan, Ants Toi, Susan Blaser, Sandra Viero, Louise Devisme, Odile Boute-Bénéjean, Sylvie Manouvrier-Hanu, Geert Mortier, Bart Loeys, A

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 554 KB

english, 2007

10

Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography

Jean-Marc Levaillant, Marion Gérard-Blanluet, Muriel Holder-Espinasse, Anne-Sylvie Valat-Rigot, Louise Devisme, Hélène Cavé, Sylvie Manouvrier-Hanu

Journal:

Prenatal Diagnosis

Année:

2006

Langue:

english

Fichier:

PDF, 212 KB

english, 2006

11

Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

Hélène Ansart-Franquet, Véronique Houfflin-Debarge, Jamal Ghoumid, Nelly Pasz, Louise Devisme, Sylvie Manouvrier-Hanu, Joris Andrieux, Muriel Holder-Espinasse

Journal:

Prenatal Diagnosis

Année:

2009

Langue:

english

Fichier:

PDF, 63 KB

english, 2009

12

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

Jamal Ghoumid, Hélène Ansart-Franquet, Damien Subtil, Nelly Pasz, Louise Devisme, Jeanne Amiel, Joris Andrieux, Sylvie Manouvrier-Hanu, Muriel Holder-Espinasse

Journal:

Prenatal Diagnosis

Année:

2009

Langue:

english

Fichier:

PDF, 60 KB

english, 2009

13

10.1038/ng720

Miceli-Richard, Corinne, Lesage, Suzanne, Rybojad, Michel, Prieur, Anne-Marie, Manouvrier-Hanu, Sylvie, Häfner, Renate, Chamaillard, Mathias, Zouali, Habib, Thomas, Gilles, Hugot, Jean-Pierre

Journal:

Nature Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 129 KB

english, 2001

14

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders

Robertson, Stephen P, Thompson, Sarah, Morgan, Timothy, Holder-Espinasse, Muriel, Martinot-Duquenoy, Véronique, Wilkie, Andrew O M, Manouvrier-Hanu, Sylvie

Journal:

European Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 145 KB

english, 2006

15

A new mutation in TP63 is associated with age-related pathology

Holder-Espinasse, Muriel, Martin-Coignard, Dominique, Escande, Fabienne, Manouvrier-Hanu, Sylvie

Journal:

European Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 142 KB

english, 2007

16

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

Joris Andrieux, Frédéric Lepretre, Jean-Marie Cuisset, Alice Goldenberg, Bruno Delobel, Sylvie Manouvrier-Hanu, Muriel Holder-Espinasse

Journal:

European Journal of Medical Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 526 KB

english, 2008

17

A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis

Joris Andrieux, Jean-Christophe Cuvellier, Bénédicte Duban-Bedu, Sylvie Joriot-Chekaf, Anne Dieux-Coeslier, Sylvie Manouvrier-Hanu, Bruno Delobel, Louis Vallee

Journal:

European Journal of Medical Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 744 KB

english, 2008

18

Crane–Heise syndrome: Two further case reports

Florence Petit, Louise Devisme, Annick Toutain, Véronique Houfflin-Debarge, Anne Dieux-Coeslier, Sylvie Manouvrier-Hanu, Joris Andrieux, Muriel Holder-Espinasse

Journal:

European Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 530 KB

english, 2011

19

Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia

Florence Petit, Joris Andrieux, Muriel Holder-Espinasse, Sonia Bouquillon, Thomas Pennaforte, Laurent Storme, Sylvie Manouvrier-Hanu

Journal:

European Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 350 KB

english, 2011

20

Disorders of Sexual Development Prenatal Diagnosis. 10 Year Experience of the Lille University Hospital Multidisciplinary Prenatal Diagnosis Center

Patricia Bartaire, Remi Besson, Maryse Cartigny, Sylvie Manouvrier-Hanu, Jacques Weil, Veronique Houfflin-Debarge

Journal:

Journal of Pediatric Urology

Année:

2010

Langue:

english

Fichier:

PDF, 34 KB

english, 2010

21

A novel mutation in CDMP1 causes brachydactyly type C with “angel-shaped phalanx”. A genotype–phenotype correlation in the mutational spectrum

Gutiérrez-Amavizca, Bianca Ethel, Brambila-Tapia, Aniel Jessica Leticia, Juárez-Vázquez, Clara Ibet, Holder-Espinasse, Muriel, Manouvrier-Hanu, Sylvie, Escande, Fabienne, Barros-Núñez, Patricio

Journal:

European Journal of Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 403 KB

english, 2012

22

Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: Two cases and expansion of the phenotype to radial agenesis

Petit, Florence, Andrieux, Joris, Demeer, Bénédicte, Collet, Louis-Michel, Copin, Henri, Boudry-Labis, Elise, Escande, Fabienne, Manouvrier-Hanu, Sylvie, Mathieu-Dramard, Michèle

Journal:

European Journal of Medical Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 702 KB

english, 2013

23

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

Année:

2011

Langue:

english

Fichier:

PDF, 391 KB

english, 2011

24

Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10

Pingault, Veronique, Pierre-Louis, Laurence, Chaoui, Asma, Verloes, Alain, Sarrazin, Elisabeth, Brandberg, Goran, Bondurand, Nadege, Uldall, Peter, Manouvrier-Hanu, Sylvie

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 806 KB

english, 2014

25

Pathogenesis of congenital diaphragmatic hernia: Additional clues regarding the involvement of the endothelin system

Mesdag, Violette, Andrieux, Joris, Coulon, Capucine, Pennaforte, Thomas, Storme, Laurent, Manouvrier-Hanu, Sylvie, Petit, Florence

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 328 KB

english, 2014

26

Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Ghoumid, Jamal, Petit, Florence, Holder-Espinasse, Muriel, Jourdain, Anne-Sophie, Guerra, José, Dieux-Coeslier, Anne, Figeac, Martin, Porchet, Nicole, Manouvrier-Hanu, Sylvie, Escande, Fabienne

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 659 KB

english, 2015

27

ELN gene triplication responsible for familial supravalvular aortic aneurysm

Guemann, Anne-Sophie, Andrieux, Joris, Petit, Florence, Halimi, Emmanuel, Bouquillon, Sonia, Manouvrier-Hanu, Sylvie, Van De Kamp, Jiddeke, Boileau, Catherine, Hanna, Nadine, Jondeau, Guillaume, Vaksm

Journal:

Cardiology in the Young

Année:

2015

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2015

28

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

Petit, Florence, Jourdain, Anne-Sophie, Holder-Espinasse, Muriel, Keren, Boris, Andrieux, Joris, Duterque-Coquillaud, Martine, Porchet, Nicole, Manouvrier-Hanu, Sylvie, Escande, Fabienne

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2015

29

Endocrinologie en Gynécologie et Obstétrique || Faire un garçon ou une fille

Manouvrier-Hanu, Sylvie

Année:

2012

Langue:

french

Fichier:

PDF, 281 KB

french, 2012

30

ZDHHC8 Single Nucleotide Polymorphism rs175174 is not associated with psychiatric features of the 22q11 Deletion Syndrome or Schizophrenia

Demily, Caroline, Legallic, Solenn, Bou, Jacqueline, Houy-Durand, Emmanuelle, Van Amelsvoort, Th??r??se, Zinkstok, Janneke, Manouvrier-Hanue, Sylvie, Vogels, Annick, Drouin-Garraud, Val??rie, Philip,

Journal:

Psychiatric Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 44 KB

english, 2007

31

Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?

Holder-Espinasse, Muriel, Fayoux, Pierre, Morillon, Sandrine, Fourier, Catherine, Dieux-Coeslier, Anne, Manouvrier-Hanu, Sylvie, Le Merrer, Martine, Hall, Christine M.

Journal:

Clinical Dysmorphology

Année:

2004

Langue:

english

Fichier:

PDF, 127 KB

english, 2004

32

eLS || Limb Development Anomalies: Genetics

Manouvrier-Hanu, Sylvie

Année:

2001

Langue:

english

Fichier:

PDF, 172 KB

english, 2001

33

The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study

Geerts, Laura, Fantini-Hauwel, Carole, Brugallé, Elodie, Boute, Odile, Frénois, Frédéric, Defrance, Lydie, Manouvrier-Hanu, Sylvie, Petit, Florence, Antoine, Pascal

Journal:

Journal of Genetic Counseling

Année:

2017

Langue:

english

Fichier:

PDF, 312 KB

english, 2017

34

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder

Ghoumid, Jamal, Petit, Florence, Boute-Benejean, Odile, Frenois, Frédéric, Cartigny, Maryse, Vanlerberghe, Clémence, Smol, Thomas, Caumes, Roseline, de ROUX, Nicolas, Manouvrier-Hanu, Sylvie

Journal:

European Journal of Human Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 659 KB

english, 2017

35

eLS || Limb Development Anomalies: Genetics

Manouvrier-Hanu, Sylvie

Année:

2001

Langue:

english

Fichier:

PDF, 96 KB

english, 2001

36

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Frints, Suzanna G. M., Ozanturk, Aysegul, Rodríguez Criado, Germán, Grasshoff, Ute, de Hoon, Bas, Field, Michael, Manouvrier-Hanu, Sylvie, E. Hickey, Scott, Kammoun, Molka, Gripp, Karen W., Bauer, Cla

Journal:

Molecular Psychiatry

Année:

2018

Langue:

english

Fichier:

PDF, 3.79 MB

english, 2018

37

Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication

Smol, Thomas, Thuillier, Caroline, Boudry-Labis, Elise, Dieux-Coeslier, Anne, Duban-Bedu, Bénédicte, Caumes, Roseline, Bouquillon, Sonia, Manouvrier-Hanu, Sylvie, Roche-Lestienne, Catherine, Ghoumid,

Journal:

Année:

2019

Fichier:

PDF, 508 KB

2019

38

Growing up with a rare genetic disease: an interpretative phenomenological analysis of living with Holt-Oram syndrome

Brugallé, Elodie, Antoine, Pascal, Geerts, Laura, Bellengier, Laurence, Manouvrier-Hanu, Sylvie, Fantini-Hauwel, Carole

Journal:

Disability & Rehabilitation

Année:

2019

Fichier:

PDF, 1020 KB

2019

39

Confirmation of risk of cancer in blepharocheilodontic syndrome

Ghoumid, Jamal, Lejeune, Sophie, Renaud, Florence, Stichelbout, Morgane, Petit, Florence, Manouvrier-Hanu, Sylvie

Journal:

Genetics in Medicine

Année:

2020

Fichier:

PDF, 239 KB

2020

40

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder

Caumes, Roseline, Smol, Thomas, Thuillier, Caroline, Balerdi, Marie, Lestienne-Roche, Catherine, Manouvrier-Hanu, Sylvie, Ghoumid, Jamal

Journal:

European Journal of Medical Genetics

Année:

2020

Fichier:

PDF, 319 KB

2020