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1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

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

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

13

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

14

Small patella syndrome: New clinical and molecular insights into a consistent phenotype

Vanlerberghe, C., Jourdain, A.-S., Dieux, A., Toutain, A., Callewaert, B., Dupuis-Girod, S., Unger, S., Wright, M., Isidor, B., Ghoumid, J., Petit, F., Boutry, N., Escande, F., Manouvrier-Hanu, S.

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 359 KB

english, 2017

15

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

16

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

17

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

18

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

19

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

20

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

21

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

22

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

23

eLS || Limb Development Anomalies: Genetics

Manouvrier-Hanu, Sylvie

Year:

2001

Language:

english

File:

PDF, 172 KB

english, 2001

24

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

25

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

26

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

Year:

2007

Language:

english

File:

PDF, 44 KB

english, 2007

27

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

Year:

2020

File:

PDF, 319 KB

2020

28

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

29

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

30

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

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

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

33

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

34

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

35

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

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

Year:

2018

Language:

english

File:

PDF, 3.79 MB

english, 2018

37

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

38

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

39

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:

Year:

2019

File:

PDF, 508 KB

2019

40

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

41

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

42

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

Year:

2017

Language:

english

File:

PDF, 659 KB

english, 2017

43

eLS || Limb Development Anomalies: Genetics

Manouvrier-Hanu, Sylvie

Year:

2001

Language:

english

File:

PDF, 96 KB

english, 2001

44

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

45

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

Manouvrier-Hanu, Sylvie

Year:

2012

Language:

french

File:

PDF, 281 KB

french, 2012

46

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

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

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

49

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

50

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

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