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1

Stratégie d’exploration d’une déficience intellectuelle inexpliquée

A. Verloes, D. Héron, T. Billette de Villemeur, A. Afenjar, C. Baumann, N. Bahi-Buisson, P. Charles, A. Faudet, A. Jacquette, C. Mignot, M.-L. Moutard, S. Passemard, M. Rio, L. Robel, C. Rougeot, D. V

Journal:

Archives de Pédiatrie

Year:

2012

File:

PDF, 478 KB

2012

2

Elements of morphology: Standard terminology for the lips, mouth, and oral region

John C. Carey, M. Michael Cohen Jr., Cynthia J.R. Curry, Koenraad Devriendt, Lewis B. Holmes, Alain Verloes

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 744 KB

english, 2009

3

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

David Cohen, Nadège Pichard, Sylvie Tordjman, Clarisse Baumann, Lydie Burglen, Elsa Excoffier, Gabriela Lazar, Philippe Mazet, Clément Pinquier, Alain Verloes, Delphine Héron

Journal:

Journal of Autism and Developmental Disorders

Year:

2005

Language:

english

File:

PDF, 280 KB

english, 2005

4

Osteocraniostenosis vs. severe Hallermann-Streiff-François syndrome

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 78 KB

english, 1997

5

Monosomy 11q: Report of two familial cases and review of the literature

Roland Hustinx, Dr. Alian Verloes, Bettina Grattagliano, Christian Herens, Mauricette Jamar, Danial Soyeur, Jean-Pierre Schaaps, Lucien Koulischer

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 613 KB

english, 1993

6

MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype–genotype correlation

Marie Gomot, Chantal Gendrot, Alain Verloes, Martine Raynaud, Albert David, Helger G. Yntema, Sabine Dessay, Vera Kalscheuer, Suzanne Frints, Philippe Couvert, Sylvain Briault, Sophie Blesson, Annick

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 156 KB

english, 2003

7

Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature

J. M. Levaillant, D. Moeglin, K. Zouiten, M. Bucourt, L. Burglen, V. Soupre, C. Baumann, M. L. Jaquemont, R. Touraine, A. Picard, E. Vuillard, N. Belarbi, J. F. Oury, A. Verloes, M. P. Vazquez, P. Lab

Journal:

Prenatal Diagnosis

Year:

2009

Language:

english

File:

PDF, 341 KB

english, 2009

8

Bruck syndrome: neonatal presentation and natural course in three patients

J. G. Leroy, Lieve Nuytinck, Anne De Paepe, Magda De Rammelaere, Yves Gillerot, Alain Verloes, Bart Loeys, William De Groote

Journal:

Pediatric Radiology

Year:

1998

Language:

english

File:

PDF, 1.23 MB

english, 1998

9

Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet–Biedl syndrome underline complex CNS impact of primary cilia

V Bennouna-Greene, S Kremer, C Stoetzel, D Christmann, C Schuster, M Durand, A Verloes, S Sigaudy, M Holder-Espinasse, J Godet, C Brandt, V Marion, A Danion, J-L Dietemann, H Dollfus

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 5.25 MB

english, 2011

10

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Niihori, Tetsuya, Aoki, Yoko, Narumi, Yoko, Neri, Giovanni, Cavé, Hélène, Verloes, Alain, Okamoto, Nobuhiko, Hennekam, Raoul C M, Gillessen-Kaesbach, Gabriele, Wieczorek, Dagmar

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 219 KB

english, 2006

11

Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: A review

Sylvie Odent, Bernard Le Marec, Annick Toutain, Albert David, Jacqueline Vigneron, Catherine Tréguier, Hélène Jouan, Joëlle Milon, Jean-Pierre Fryns, Alain Verloes

Journal:

American Journal of Medical Genetics Part A

Year:

1998

Language:

english

File:

PDF, 271 KB

english, 1998

12

Cardiac involvement in Coffin-Lowry syndrome

MM Massin, MA Radermecker, A Verloes, S Jacquot, Th Grenade

Journal:

Acta Paediatrica

Year:

1999

Language:

english

File:

PDF, 207 KB

english, 1999

13

A prenatal trisomy 21 screening program using α-fetoprotein, human chorionic gonadotropin, and free estriol assays on maternal dried blood

Alain Verloes, Roland Schoos, Christian Herens, Anne Vintens, Lucien Koulischer

Journal:

American Journal of Obstetrics and Gynecology

Year:

1995

Language:

english

File:

PDF, 809 KB

english, 1995

14

Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome

Chloé Quélin, Philippe Loget, Alain Verloes, Anne Bazin, Bettina Bessières, Annie Laquerrière, Sophie Patrier, Romulus Grigorescu, Ferechté Encha-Razavi, Sophie Delahaye, Jean-Marie Jouannic, Bruno Ca

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 1.84 MB

english, 2012

15

Many roads lead to primary autosomal recessive microcephaly

Angela M. Kaindl, Sandrine Passemard, Pavan Kumar, Nadine Kraemer, Lina Issa, Angelika Zwirner, Benedicte Gerard, Alain Verloes, Shyamala Mani, Pierre Gressens

Journal:

Progress in Neurobiology

Year:

2010

Language:

english

File:

PDF, 1.47 MB

english, 2010

16

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

17

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Tabet, Anne-Claude, Verloes, Alain, Pilorge, Marion, Delaby, Elsa, Delorme, Richard, Nygren, Gudrun, Devillard, Françoise, Gérard, Marion, Passemard, Sandrine, Héron, Delphine, Siffroi, Jean-Pierre, J

Journal:

Molecular Autism

Year:

2015

Language:

english

File:

PDF, 2.01 MB

english, 2015

18

Nicolaides???Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals

Morin, Gilles, Villemain, Lucie, Baumann, Clarisse, Mathieu, Mich??le, Blanc, Nathalie, Verloes, Alain

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 158 KB

english, 2003

19

Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

Gilbert-Dussardier, Brigitte, Briand-Suleau, Audrey, Laurendeau, Ingrid, Bilan, Frédéric, Cavé, Hélène, Verloes, Alain, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 2.42 MB

english, 2016

20

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder

Lévy, J., Grotto, S., Mignot, C., Dupont, C., Delahaye, A., Benzacken, B., Keren, B., Haye, D., Xavier, J., Heulin, M., Charles, E., Verloes, A., Maruani, A., Pipiras, E., Tabet, A.-C.

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.09 MB

english, 2018

21

Étude rétrospective de 74 patients avec anomalies de la segmentation vertébrale : démarche diagnostique et investigations génétiques

Lefebvre, Mathilde, Dieux-Coeslier, Anne, Baujat, Geneviève, Schaefer, Elise, Francannet, Christine, Bazin, Anne, Attié-Bittach, Tania, Verloes, Alain, Pierquin, Geneviève, Doray, Bérénice, Vincent-De

Journal:

Year:

2018

Language:

french

File:

PDF, 162 KB

french, 2018

22

Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: Complex defect of blastogenesis?

David, Albert, Mercier, Jacques, Verloes, Alain

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 619 KB

english, 1996

23

Tricho-hepato-enteric syndrome: Further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies

Verloes, Alain, Lombet, Jacques, Lambert, Yves, Hubert, Anne-Frédérique, Deprez, Manuel, Fridman, Viviana, Gosseye, Serge, Rigo, Jacques, Sokal, Etienne

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 157 KB

english, 1997

24

Microcephaly, muscular build, rhizomelia, and cataracts: Description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology

Verloes, Alain, Lesenfants, Sylviane, Misson, Jean-Paul, Galand, Albert, Koulischer, Lucien

Journal:

American Journal of Medical Genetics

Year:

1997

File:

PDF, 16.10 MB

1997

25

Coloboma, mental retardation, hypogonadism, and obesity: Critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three “new” syndromes

Verloes, Alain, Temple, I. Karen, Bonnet, Sabine, Bottani, Armand

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 866 KB

english, 1997

26

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form

Verloes, Alain, Massin, Martial, Lombet, Jacques, Grattagliano, Bettina, Soyeur, Daniel, Rigo, Jacques, Koulischer, Lucien, Van Hoof, François

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 256 KB

english, 1997

27

Feingold syndrome: Report of a new family and review

Courtens, W., Levi, S., Verbelen, F., Verloes, A., Vamos, E.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 373 KB

english, 1997

28

Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome

Herens, Christian, Jamar, Mauricette, Alvarez-Gonzalez, Maria-Luz, Lesenfants, Sylviane, Lombet, Jacques, Bonnivert, Jacqueline, Koulischer, Lucien, Verloes, Alain

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 208 KB

english, 1997

29

Pfeiffer syndrome type 2: Further delineation and review of the literature

Plomp, Astrid S., Hamel, Ben C.J., Cobben, Jan M., Verloes, Alain, Offermans, Jos P.M., Lajeunie, Elisabeth, Fryns, Jean Pierre, de Die-Smulders, Christine E.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 251 KB

english, 1998

30

Further delineation of the Verloes-Koulischer-oro-acral Syndrome

de Silva, Deepthi C., Verloes, Alain

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 173 KB

english, 1998

31

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance

del Campo, Miguel, Hall, Bryan D., Aeby, Alec, Nassogne, Marie-Cecile, Verloes, Alain, Roche, Carmen, Gonzalez, Carmen, Sanchez, Honorio, Garcia-Alix, Alfredo, Cabanas, Fernando, Escudero, Rosa M., He

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 331 KB

english, 1999

32

Koraxitrachitic syndrome: A syndromic form of self-healing collodion baby with residual dappled atrophy of the derma

Verloes, Alain, Hermanns-L�, Trinh, Lesenfants, Sylviane, Lombet, Jacques, Lamotte, Paul-Jacques, Cr�vecoeur-Li�geois, Corine, Duchesne, Bernard, Pi�rard, G�rald E.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 581 KB

english, 1999

33

Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia

Verloes, Alain, Lesenfants, Sylviane, Barr, Mason, Grange, Dorothy K., Journel, Hubert, Lombet, Jacques, Mortier, Gert, Roeder, Elisabeth

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 1.71 MB

english, 2000

34

Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples

R. N. Van Coster, S. Janssens, J.-P. Misson, A. Verloes, J. G. Leroy

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 109 KB

english, 1998

35

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases

Jacques Poncin, Roger Abs, Brigitte Velkeniers, Maryse Bonduelle, Marc Abramowicz, Jean-Jacques Legros, Alain Verloes, Michel Meurisse, Luc Van Gaal, Christine Verellen, Lucien Koulischer, Albert Beck

Journal:

Year:

1999

Language:

english

File:

PDF, 378 KB

english, 1999

36

Distal limb deficiencies, oral involvement, and renal defect: Report of a third patient and confirmation of a distinct entity

K. Keymolen, R. Van Damme-Lombaerts, A. Verloes, J.P. Fryns

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 211 KB

english, 2000

37

GOMBO syndrome: Another “pseudorecessive” disorder due to a cryptic translocation

Alain Verloes, Sylviane Lesenfants, Mauricette Jamar, Vinciane Dideberg, Christian Herens

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

38

New dysostosis showing multilevel absence of vertebral pedicles: Unique developmental anomaly of vertebral arches?

Alain Verloes, Christian Muller, Pierre Philippet

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 329 KB

english, 2000

39

Lissencephaly type III, stippled epiphyses and loose, thick skin: A new recessively inherited syndrome

Jocelyne Attia-Sobol, Férechté Encha-Razavi, Marc Hermier, Danielle Vitrey, Alain Verloes, Henri Plauchu

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 330 KB

english, 2001

40

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

Ichizo Nishino, Antonella Spinazzola, Alexandros Papadimitriou, Simon Hammans, Israel Steiner, Cecil D. Hahn, Anne M. Connolly, Alain Verloes, João Guimarães, Ivan Maillard, Hitoshi Hamano, M. Alice D

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 748 KB

english, 2000

41

Neuroimaging fails to identify asymptomatic carriers of familial porencephaly

C. Vilain, N. Van Regemorter, A. Verloes, P. David, P. Van Bogaert

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 149 KB

english, 2002

42

Clinical and genetic heterogeneity of Seckel syndrome

L. Faivre, M. Le Merrer, S. Lyonnet, H. Plauchu, N. Dagoneau, A.B. Campos-Xavier, J. Attia-Sobol, A. Verloes, A. Munnich, V. Cormier-Daire

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 143 KB

english, 2002

43

Noonan and Klinefelter syndromes in a child

Alain Verloes, Ornella Guidi, Jacques Frederic, Claude Lambotte, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 74 KB

english, 1987

44

GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: A possible “new” recessively inherited MCA/MR syndrome

Dr. Alain Verloes, Jacques Delfortrie, Claude Lambotte, F. Clarke Fraser, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 428 KB

english, 1989

45

Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis

A. Verloes, C. Lambotte, Giovanni Neri, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 918 KB

english, 1989

46

BBBG syndrome or opitz syndrome: New family

Alain Verloes, Martine Le Merrer, Marie-Louise Briard

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 409 KB

english, 1989

47

Lambotte syndrome: Microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality—A new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs

A. Verloes, P. Dodinval, L. Beco, J. Bonnivert, C. Lambotte

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 532 KB

english, 1990

48

Etretinate embrytoxicity 7 months after discontinuation of treatment

Dr. Alain Verloes, Pol Dodinval, Lucien Koulischer, René Lambotte, Jacqueline Bonnivert

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 139 KB

english, 1990

49

Metaphyseal anadysplasia: A metaphyseal dysplasia of early onset with radiological regression and benign course

Pierre Maroteaux, Alain Verloes, Victor Stanescu, Ritta Stanescu

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 769 KB

english, 1991

50

Acromelic frontonasal “dysplasia”: Further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome)

Dr. Alain Verloes, Yves Gillerot, Elisabeth Walczak, Lionel Van Maldergem, Lucien Koulischer

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 388 KB

english, 1992

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