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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

Year:

2004

Language:

english

File:

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:

Year:

2011

Language:

english

File:

PDF, 190 KB

english, 2011

3

Genetics of limb anomalies in humans

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

Journal:

Trends in Genetics

Year:

1999

Language:

english

File:

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

Year:

2012

Language:

english

File:

PDF, 605 KB

english, 2012

5

Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature

Manouvrier-Hanu, S., Puech, B., Piette, F., Boute-Benejean, O., Desbonnet, A., Duquesnoy, B., Farriaux, J.P.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 224 KB

english, 1998

6

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

Year:

1999

Language:

english

File:

PDF, 202 KB

english, 1999

7

A new case of distal deletion of the long arm of chromosome 1

S. Manouvrier-Hanu, R. Walbaum, C. Gayot, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 117 KB

english, 1986

8

The GAPO syndrome

Dr. S. Manouvrier-Hanu, C. Largilliere, M. Benalioua, J.-P. Farriaux, G. Fontaine, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 379 KB

english, 1987

9

Another case of ring chromosome 9 associated with gastroesophageal reflux

S. Manouvrier-Hanu, D. Turck, J. P. Farriaux

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 72 KB

english, 1989

10

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

Year:

1989

Language:

english

File:

PDF, 452 KB

english, 1989

11

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

Year:

1990

Language:

english

File:

PDF, 349 KB

english, 1990

12

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

Sylvie Manouvrier-Hanu

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 85 KB

english, 2003

13

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

Year:

2007

Language:

english

File:

PDF, 554 KB

english, 2007

14

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

Year:

2006

Language:

english

File:

PDF, 212 KB

english, 2006

15

Prenatal diagnosis of metatropic dwarfism

S. Manouvrier-Hanu, L. Devisme, M. C. Zelasko, Ph. Bourgeot, C. Vincent-Delorme, A. S. Valat-Rigot, F. Puech, J. P. Farriaux

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 1.09 MB

english, 1995

16

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

Year:

2009

Language:

english

File:

PDF, 63 KB

english, 2009

17

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

Year:

2009

Language:

english

File:

PDF, 60 KB

english, 2009

18

Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas

J. Bouthors, M-C. Vantyghem, S. Manouvrier-Hanu, B. Soudan, E. Proust, R. Happle, F. Piette

Journal:

British Journal of Dermatology

Year:

2006

Language:

english

File:

PDF, 139 KB

english, 2006

19

Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell– Silver syndrome

F Petit, M Holder-Espinasse, B Duban-Bedu, S Bouquillon, O Boute-Benejean, A Bazin, V Rouland, S Manouvrier-Hanu, B Delobel

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 533 KB

english, 2012

20

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

Year:

2001

Language:

english

File:

PDF, 129 KB

english, 2001

21

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

Year:

2006

Language:

english

File:

PDF, 145 KB

english, 2006

22

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

Year:

2007

Language:

english

File:

PDF, 142 KB

english, 2007

23

P03.35: Tri-dimensional ultrasonography suggestive of Costello syndrome, with identified PTPN11 mutation

J.-M. Levaillant, M. Gérard-Blanluet, S. Manouvrier-Hanu

Journal:

Ultrasound in Obstetrics & Gynecology

Year:

2005

Language:

english

File:

PDF, 36 KB

english, 2005

24

What can we learn from old microdeletion syndromes using array-CGH screening?

A L Mosca-Boidron, S Bouquillon, L Faivre, P Callier, J Andrieux, N Marle, C Bonnet, C Vincent-Delorme, M Berri, G Plessis, S Manouvrier-Hanu, A Dieux-Coeslier, C Thauvin-Robinet, E Pipiras, A Delahay

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 582 KB

english, 2012

25

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

Year:

2008

Language:

english

File:

PDF, 526 KB

english, 2008

26

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

Year:

2008

Language:

english

File:

PDF, 744 KB

english, 2008

27

Oculo-dento-digital dysplasia: Lack of genotype–phenotype correlation for GJA1 mutations and usefulness of neuro-imaging

M.J. Alao, D. Bonneau, M. Holder-Espinasse, C. Goizet, S. Manouvrier-Hanu, A. Mezel, F. Petit, D. Subtil, C. Magdelaine, D. Lacombe

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 557 KB

english, 2010

28

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

Year:

2011

Language:

english

File:

PDF, 530 KB

english, 2011

29

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

Year:

2011

Language:

english

File:

PDF, 350 KB

english, 2011

30

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

Year:

2010

Language:

english

File:

PDF, 34 KB

english, 2010

31

Le syndrome de Dyggve-Melchior-Clausen : diagnostic différentiel de la mucopolysaccharidose de type IV ou maladie de Morquio

A Coëslier, O Boute-Bénéjean, A Moerman, D Fron, S Manouvrier-Hanu

Journal:

Archives de Pédiatrie

Year:

2001

Language:

french

File:

PDF, 96 KB

french, 2001

32

Clasificación de las malformaciones congénitas de los miembros

S. Manouvrier-Hanu, A. Mezel

Journal:

EMC - Aparato Locomotor

Year:

2011

Language:

spanish

File:

PDF, 619 KB

spanish, 2011

33

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

Year:

2012

Language:

english

File:

PDF, 403 KB

english, 2012

34

Pure Ectodermal Dysplasia: Retrospective Study of 16 Cases and Literature Review

Ruhin, B., Martinot, V., Lafforgue, P., Catteau, B., Manouvrier-Hanu, S., Ferri, J.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2001

Language:

english

File:

PDF, 1.24 MB

english, 2001

35

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

Year:

2013

Language:

english

File:

PDF, 702 KB

english, 2013

36

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

37

Société Française d’Orthopédie Pédiatrique

Holder-Espinasse, M., Herbaux, B., Mezel, A., Lacombe, D., Devisme, L., Boute-Bénéjean, O., Dieux-Coeslier, A., Escande, F., Manouvrier-Hanu, S.

Journal:

Revue de Chirurgie Orthopédique et Réparatrice de l'Appareil Moteur

Year:

2006

Language:

french

File:

PDF, 567 KB

french, 2006

38

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause

Petit, F., Escande, F., Jourdain, A.S., Porchet, N., Amiel, J., Doray, B., Delrue, M.A., Flori, E., Kim, C.A., Marlin, S., Robertson, S.P., Manouvrier-Hanu, S., Holder-Espinasse, M.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 673 KB

english, 2014

39

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

Year:

2014

Language:

english

File:

PDF, 806 KB

english, 2014

40

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

Year:

2014

Language:

english

File:

PDF, 328 KB

english, 2014

41

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

Vincent, M C, Guiraud-Chaumeil, C, Laporte, J, Manouvrier-Hanu, S, Mandel, J L

Journal:

Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 471 KB

english, 1998

42

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

Raux, G., Bumsel, E., Hecketsweiler, B., van Amelsvoort, T., Zinkstok, J., Manouvrier-Hanu, S., Fantini, C., Breviere, G.-M. M., Di Rosa, G., Pustorino, G., Vogels, A., Swillen, A., Legallic, S., Bou,

Journal:

Human Molecular Genetics

Year:

2006

Language:

english

File:

PDF, 112 KB

english, 2006

43

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

Year:

2015

Language:

english

File:

PDF, 659 KB

english, 2015

44

Sex reversal and diaphragmatic hernia in phenotypically female sibs with normal XY chromosomes

MANOUVRIER-HANU, S

Journal:

Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 705 KB

english, 2000

45

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

Year:

2015

Language:

english

File:

PDF, 1.06 MB

english, 2015

46

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

Year:

2015

Language:

english

File:

PDF, 1.02 MB

english, 2015

47

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome

Manouvrier-Hanu, S., Amiel, J., Jacquot, S., Merienne, K., Moerman, A., Coeslier, A., Labarriere, F., Vallee, L., Croquette, M. F., Hanauer, A.

Journal:

Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 116 KB

english, 1999

48

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

Manouvrier-Hanu, Sylvie

Year:

2012

Language:

french

File:

PDF, 281 KB

french, 2012

49

Classification des malformations congénitales des membres

Manouvrier-Hanu, S., Mezel, A.

Journal:

EMC - Appareil locomoteur

Year:

2010

Language:

french

File:

PDF, 664 KB

french, 2010

50

Intrafamilial variability of ZRS -associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing

Vanlerberghe, C., Faivre, L., Petit, F., Fruchart, O., Jourdain, A.-S., Clavier, F., Gay, S., Manouvrier-Hanu, S., Escande, F.

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 429 KB

english, 2015