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Alain Verloes
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31
Koulischer, L
21
Baumann, Clarisse
19
Herens, Christian
14
Le Merrer, Martine
13
Lesenfants, S
10
Jamar, Mauricette
8
Lacombe, Didier
7
Munnich, Arnold
7
Bonneau, Dominique
7
Cavé, Hélène
7
Cormier-Daire, Valérie
6
Benzacken, Brigitte
6
Dollfus, Hélène
6
Misson, Jean-Paul
6
Hennekam, Raoul
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All Publications
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2009: Isidor Bertrand; Hamel Antoine; Plasschaert Frank; Claus Lieve; Mercier Jacques-Marie; Mortier Geert R; Leroy Jules G; Verloes Alain; David Albert
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course.
American journal of medical genetics. Part A 2009;149A(10):2220-5.
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2009: Beneteau Claire; Cavé Hélène; Moncla Anne; Dorison Nathalie; Munnich Arnold; Verloes Alain; Leheup Bruno
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
European journal of human genetics : EJHG 2009;17(10):1216-21.
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2009: Sousa Sérgio B; Abdul-Rahman Omar A; Bottani Armand; Cormier-Daire Valérie; Fryer Alan; Gillessen-Kaesbach Gabriele; Horn Denise; Josifova Dragana; Kuechler Alma; Lees Melissa; MacDermot Kay; Magee Alex; Morice-Picard Fanny; Rosser Elizabeth; Sarkar Ajoy; Shannon Nora; Stolte-Dijkstra Irene; Verloes Alain; Wakeling Emma; Wilson Louise; Hennekam Raoul C M
Nicolaides-Baraitser syndrome: Delineation of the phenotype.
American journal of medical genetics. Part A 2009;149A(8):1628-40.
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2009: Depienne Christel; Moreno-De-Luca Daniel; Heron Delphine; Bouteiller Delphine; Gennetier Aurélie; Delorme Richard; Chaste Pauline; Siffroi Jean-Pierre; Chantot-Bastaraud Sandra; Benyahia Baya; Trouillard Oriane; Nygren Gudrun; Kopp Svenny; Johansson Maria; Rastam Maria; Burglen Lydie; Leguern Eric; Verloes Alain; Leboyer Marion; Brice Alexis; Gillberg Christopher; Betancur Catalina
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Biological psychiatry 2009;66(4):349-59.
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2009: Vilain Catheline; Mortier Geert; Van Vliet Guy; Dubourg Christèle; Heinrichs Claudine; de Silva Deephti; Verloes Alain; Baumann Clarisse
Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review.
American journal of medical genetics. Part A 2009;149A(7):1476-81.
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2009: Guimiot Fabien; Marcorelles Pascale; Aboura Azzedine; Bonyhay Georges; Patrier Sophie; Menez Françoise; Drouin-Garraud Valérie; Icowick Valentine; Eurin Danièle; Garel Catherine; Moirot Hélène; Verspyck Eric; Saugier-Veber Pascale; Attie-Bitach Tania; Picone Olivier; Oury Jean François; Verloes Alain; Delezoide Anne Lise; Laquerrière Annie
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome.
American journal of medical genetics. Part A 2009;149A(6):1108-15.
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2009: Brancati Francesco; Iannicelli Miriam; Travaglini Lorena; Mazzotta Annalisa; Bertini Enrico; Boltshauser Eugen; D'Arrigo Stefano; Emma Francesco; Fazzi Elisa; Gallizzi Romina; Gentile Mattia; Loncarevic Damir; Mejaski-Bosnjak Vlatka; Pantaleoni Chiara; Rigoli Luciana; Salpietro Carmelo D; Signorini Sabrina; Stringini Gilda Rita; Verloes Alain; Zabloka Dominika; Dallapiccola Bruno; Gleeson Joseph G; Valente Enza Maria;
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
Human mutation 2009;30(2):E432-42.
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2009: Siitonen H Annika; Sotkasiira Jenni; Biervliet Martine; Benmansour Abdelmadjid; Capri Yline; Cormier-Daire Valerie; Crandall Barbara; Hannula-Jouppi Katariina; Hennekam Raoul; Herzog Denise; Keymolen Kathelijn; Lipsanen-Nyman Marita; Miny Peter; Plon Sharon E; Riedl Stefan; Sarkar Ajoy; Vargas Fernando R; Verloes Alain; Wang Lisa L; Kääriäinen Helena; Kestilä Marjo
The mutation spectrum in RECQL4 diseases.
European journal of human genetics : EJHG 2009;17(2):151-8.
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2009: Carey John C; Cohen M Michael; Curry Cynthia J R; Devriendt Koenraad; Holmes Lewis B; Verloes Alain
Elements of morphology: standard terminology for the lips, mouth, and oral region.
American journal of medical genetics. Part A 2009;149A(1):77-92.
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2008: Bailleul-Forestier Isabelle; Berdal Ariane; Vinckier Frans; de Ravel Thomy; Fryns Jean Pierre; Verloes Alain
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.
European journal of medical genetics 2008;51(5):383-408.
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2008: Bélien Valérie; Gérard-Blanluet Marion; Serero Stéphane; Le Dû Nathalie; Baumann Clarisse; Jacquemont Marie-Line; Dupont Céline; Krabchi Kada; Drunat Séverine; Elbez Annie; Janaud Jean-Claude; Benzacken Brigitte; Verloes Alain; Tabet Anne-Claude; Aboura Azzedine
Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.
American journal of medical genetics. Part A 2008;146A(14):1871-4.
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2008: Bailleul-Forestier Isabelle; Molla Muriel; Verloes Alain; Berdal Ariane
The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.
European journal of medical genetics 2008;51(4):273-91.
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2008: Schneider Anouck; Benzacken Brigitte; Guichet Agnès; Verloes Alain; Bonneau Dominique; Collot Nathalie; Dastot-Le-Moal Florence; Goossens Michel; Taine Laurence; Landais Emilie; Gaillard Dominique; Doco-Fenzy Martine
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
European journal of human genetics : EJHG 2008;16(6):680-7.
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2008: Bahi-Buisson Nadia; Guttierrez-Delicado Eva; Soufflet Christine; Rio Marlène; Daire Valérie Cormier; Lacombe Didier; Héron Delphine; Verloes Alain; Zuberi Sameer; Burglen Lydie; Afenjar Alexandra; Moutard Marie Laure; Edery Patrick; Novelli Antonio; Bernardini Laura; Dulac Olivier; Nabbout Rima; Plouin Perrine; Battaglia Agatino
Spectrum of epilepsy in terminal 1p36 deletion syndrome.
Epilepsia 2008;49(3):509-15.
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2008: Narumi Yoko; Aoki Yoko; Niihori Tetsuya; Sakurai Masahiro; Cavé Hélène; Verloes Alain; Nishio Kimio; Ohashi Hirofumi; Kurosawa Kenji; Okamoto Nobuhiko; Kawame Hiroshi; Mizuno Seiji; Kondoh Tatsuro; Addor Marie-Claude; Coeslier-Dieux Anne; Vincent-Delorme Catherine; Tabayashi Koichi; Aoki Masashi; Kobayashi Tomoko; Guliyeva Afag; Kure Shigeo; Matsubara Yoichi
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Journal of human genetics 2008;53(9):834-41.
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2008: Messiaen Claude; Le Mignot Loïc; Rath Ana; Richard Jean-Baptiste; Dufour Eric; Ben Said Mohamed; Jais Jean-Philippe; Verloes Alain; Le Merrer Martine; Bodemer Christine; Baujat Geneviève; Gerard-Blanluet Marion; Bourdon-Lanoy Eva; Salomon Rémi; Ayme Ségolène; Landais Paul
CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.
Studies in health technology and informatics 2008;136():51-6.
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2007: Moog Ute; Jones Marilyn C; Viskochil David H; Verloes Alain; Van Allen Margot I; Dobyns William B
Brain anomalies in encephalocraniocutaneous lipomatosis.
American journal of medical genetics. Part A 2007;143A(24):2963-72.
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2007: Nava Caroline; Hanna Nadine; Michot Caroline; Pereira Sabrina; Pouvreau Nathalie; Niihori Tetsuya; Aoki Yoko; Matsubara Yoichi; Arveiler Benoit; Lacombe Didier; Pasmant Eric; Parfait Béatrice; Baumann Clarisse; Héron Delphine; Sigaudy Sabine; Toutain Annick; Rio Marlène; Goldenberg Alice; Leheup Bruno; Verloes Alain; Cavé Hélène
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Journal of medical genetics 2007;44(12):763-71.
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2007: Delahaye A; Sznajer Y; Lyonnet S; Elmaleh-Bergès M; Delpierre I; Audollent S; Wiener-Vacher S; Mansbach A-L; Amiel J; Baumann C; Bremond-Gignac D; Attié-Bitach T; Verloes A; Sanlaville D
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
Clinical genetics 2007;72(2):112-21.
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2007: Keren Boris; Suzuki Oscar T; Gérard-Blanluet Marion; Brémond-Gignac Dominique; Elmaleh Monique; Titomanlio Luigi; Delezoide Anne-Lise; Passos-Bueno Maria Rita; Verloes Alain
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
American journal of medical genetics. Part A 2007;143A(13):1514-8.
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2007: Schwartz Charles E; Tarpey Patrick S; Lubs Herbert A; Verloes Alain; May Melanie M; Risheg Hiba; Friez Michael J; Futreal P Andrew; Edkins Sarah; Teague Jon; Briault Sylvain; Skinner Cindy; Bauer-Carlin Astrid; Simensen Richard J; Joseph Sumy M; Jones Julie R; Gecz Josef; Stratton Michael R; Raymond F Lucy; Stevenson Roger E
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
Journal of medical genetics 2007;44(7):472-7.
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2007: Sznajer Yves; Keren Boris; Baumann Clarisse; Pereira Sabrina; Alberti Corinne; Elion Jacques; Cavé Hélène; Verloes Alain
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene.
Pediatrics 2007;119(6):e1325-31.
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2007: Buxbaum Joseph D; Cai Guiqing; Chaste Pauline; Nygren Gudrun; Goldsmith Juliet; Reichert Jennifer; Anckarsäter Henrik; Rastam Maria; Smith Christopher J; Silverman Jeremy M; Hollander Eric; Leboyer Marion; Gillberg Christopher; Verloes Alain; Betancur Catalina
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(4):484-91.
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2007: Narumi Yoko; Aoki Yoko; Niihori Tetsuya; Neri Giovanni; Cavé Hélène; Verloes Alain; Nava Caroline; Kavamura Maria Ines; Okamoto Nobuhiko; Kurosawa Kenji; Hennekam Raoul C M; Wilson Louise C; Gillessen-Kaesbach Gabriele; Wieczorek Dagmar; Lapunzina Pablo; Ohashi Hirofumi; Makita Yoshio; Kondo Ikuko; Tsuchiya Shigeru; Ito Etsuro; Sameshima Kiyoko; Kato Kumi; Kure Shigeo; Matsubara Yoichi
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
American journal of medical genetics. Part A 2007;143A(8):799-807.
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2007: Sanlaville Damien; Verloes Alain
CHARGE syndrome: an update.
European journal of human genetics : EJHG 2007;15(4):389-99.
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2007: Verloes Alain
[X chromosome]
Presse médicale (Paris, France : 1983) 2007;36 Spec No 1():1S7-13.
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2007: Titomanlio Luigi; Verloes Alain; Mercier Jean-Christophe
Case 31-2006: a girl with severe obesity.
The New England journal of medicine 2007;356(2):194; author reply 195-6.
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2007: Deffert Christine; Niel Florence; Mochel Fanny; Barrey Catherine; Romana Claudia; Souied Eric; Stoetzel Corinne; Goossens Michel; Dollfus Helene; Verloes Alain; Girodon Emmanuelle; Gerard-Blanluet Marion
Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family.
American journal of medical genetics. Part A 2007;143(2):208-13.
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2007: Stoetzel Corinne; Muller Jean; Laurier Virginie; Davis Erica E; Zaghloul Norann A; Vicaire Serge; Jacquelin Cecile; Plewniak Frederic; Leitch Carmen C; Sarda Pierre; Hamel Christian; de Ravel Thomy J L; Lewis Richard Alan; Friederich Evelyne; Thibault Christelle; Danse Jean-Marc; Verloes Alain; Bonneau Dominique; Katsanis Nicholas; Poch Olivier; Mandel Jean-Louis; Dollfus Helene
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
American journal of human genetics 2007;80(1):1-11.
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2007: Mutesa L; Hellin A C; Jamar M; Pierquin G; Bours V; Verloes A
Precocious puberty associated with partial trisomy 18q and monosomy 11q.
Genetic counseling (Geneva, Switzerland) 2007;18(2):201-7.
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2006: Titomanlio Luigi; Giurgea Irina; Baumann Clarisse; Elmaleh Monique; Sachs Philippe; Chalard François; Aboura Azzedine; Verloes Alain
A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.
European journal of human genetics : EJHG 2006;14(8):971-4.
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2006: De Leersnyder Hélène; Claustrat Bruno; Munnich Arnold; Verloes Alain
Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome.
Molecular and cellular endocrinology 2006;252(1-2):88-91.
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2006: Verloes Alain; Bremond-Gignac Dominique; Isidor Bertrand; David Albert; Baumann Clarisse; Leroy Marie-Anne; Stevens René; Gillerot Yves; Héron Delphine; Héron Bénédicte; Benzacken Brigitte; Lacombe Didier; Brunner Han; Bitoun Pierre
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
American journal of medical genetics. Part A 2006;140(12):1285-96.
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2006: Kerr B; Delrue M-A; Sigaudy S; Perveen R; Marche M; Burgelin I; Stef M; Tang B; Eden O B; O'Sullivan J; De Sandre-Giovannoli A; Reardon W; Brewer C; Bennett C; Quarell O; M'Cann E; Donnai D; Stewart F; Hennekam R; Cavé H; Verloes A; Philip N; Lacombe D; Levy N; Arveiler B; Black G
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
Journal of medical genetics 2006;43(5):401-5.
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2006: Lesca Gaetan; Fallet-Bianco Catherine; Plauchu Henri; Vitrey Danielle; Verloes Alain; Attia-Sobol Jocelyne
Orofaciodigital syndrome with cerebral dysgenesis.
American journal of medical genetics. Part A 2006;140(7):757-63.
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2006: Niihori Tetsuya; Aoki Yoko; Narumi Yoko; Neri Giovanni; Cavé Hélène; Verloes Alain; Okamoto Nobuhiko; Hennekam Raoul C M; Gillessen-Kaesbach Gabriele; Wieczorek Dagmar; Kavamura Maria Ines; Kurosawa Kenji; Ohashi Hirofumi; Wilson Louise; Heron Delphine; Bonneau Dominique; Corona Giuseppina; Kaname Tadashi; Naritomi Kenji; Baumann Clarisse; Matsumoto Naomichi; Kato Kumi; Kure Shigeo; Matsubara Yoichi
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
Nature genetics 2006;38(3):294-6.
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2006: Van Maldergem L; Siitonen H A; Jalkh N; Chouery E; De Roy M; Delague V; Muenke M; Jabs E W; Cai J; Wang L L; Plon S E; Fourneau C; Kestilä M; Gillerot Y; Mégarbané A; Verloes A
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Journal of medical genetics 2006;43(2):148-52.
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2006: Stoetzel Corinne; Laurier Virginie; Faivre Laurence; Mégarbané André; Perrin-Schmitt Fabienne; Verloes Alain; Bonneau Dominique; Mandel Jean-Louis; Cossee Mireille; Dollfus Hélène
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
Journal of human genetics 2006;51(1):81-4.
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2005: Hadchouel Alice; Bellaiche Marc; Baumann Clarisse; Darnaud Gérard; El Ghoneimi Alaa; Ferkdadji Latifa; Elmaleh Monique; Verloes Alain
Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?
European journal of medical genetics 2005;48(4):367-76.
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2005: Titomanlio Luigi; Baumann Clarisse; Bonyhay Gheorghe; Huten Yolène; Oury Jean-François; Vuillard Edith; Garel Catherine; Terdjman Patricia; Verloes Alain; Delezoide Anne-Lise
A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria.
American journal of medical genetics. Part A 2005;138(1):1-5.
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2005: Titomanlio Luigi; Bennaceur Selim; Bremond-Gignac Dominique; Baumann Clarisse; Dupuy Olivier; Verloes Alain
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
American journal of medical genetics. Part A 2005;137A(3):332-5.
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2005: Verloes Alain; Garel Catherine; Robertson Stephen; Le Merrer Martine; Baumann Clarisse
Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?
American journal of medical genetics. Part A 2005;137(2):199-203.
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2005: Faivre Laurence; Portnoï Marie France; Pals Gerard; Stoppa-Lyonnet Dominique; Le Merrer Martine; Thauvin-Robinet Christel; Huet Frédéric; Mathew Christopher G; Joenje Hans; Verloes Alain; Baumann Clarisse
Should chromosome breakage studies be performed in patients with VACTERL association?
American journal of medical genetics. Part A 2005;137(1):55-8.
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2005: Gonzales Marie; Verloes Alain; Saint Frison Marie-Hélène; Perrotez Chantal; Bourdet Odile; Encha-Razavi Ferechte; Joyé Nicole; Taillemite Jean-Louis; Walbaum Roland; Pfeiffer Rudolf; Maroteaux Pierre
Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis.
American journal of medical genetics. Part A 2005;136A(4):373-6.
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2005: Brémond-Gignac Dominique; Gérard-Blanluet Marion; Copin Henri; Bitoun Pierre; Baumann Clarisse; Crolla J A; Benzacken Brigitte; Verloes Alain
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.
American journal of medical genetics. Part A 2005;134(4):422-5.
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2005: Hichri Haifa; Stoetzel Corinne; Laurier Virginie; Caron Solenne; Sigaudy Sabine; Sarda Pierre; Hamel Christian; Martin-Coignard Dominique; Gilles Morin; Leheup Bruno; Holder Mureille; Kaplan Josseline; Bitoun Pierre; Lacombe Didier; Verloes Alain; Bonneau Dominique; Perrin-Schmitt Fabienne; Brandt Christian; Besancon Anne-Françoise; Mandel Jean-Louis; Cossée Mireille; Dollfus Hélène
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
European journal of human genetics : EJHG 2005;13(5):607-16.
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2005: Sanlaville Damien; Genevieve David; Bernardin Céline; Amiel Jeanne; Baumann Clarisse; de Blois Marie-Christine; Cormier-Daire Valérie; Gerard Bénédicte; Gerard Marion; Le Merrer Martine; Parent Philippe; Prieur Fabienne; Prieur Marguerite; Raoul Odile; Toutain Annick; Verloes Alain; Viot Géraldine; Romana Serge; Munnich Arnold; Lyonnet Stanislas; Vekemans Michel; Turleau Catherine
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
European journal of human genetics : EJHG 2005;13(5):690-3.
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2005: Brémond-Gignac Dominique; Crolla John A; Copin Henri; Guichet Agnès; Bonneau Dominique; Taine Laurence; Lacombe Didier; Baumann Clarisse; Benzacken Brigitte; Verloes Alain
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
European journal of human genetics : EJHG 2005;13(4):409-13.
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2005: Verloes Alain
Updated diagnostic criteria for CHARGE syndrome: a proposal.
American journal of medical genetics. Part A 2005;133A(3):306-8.
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2005: Lado-Abeal Joaquin; Dumitrescu Alexandra M; Liao Xiao-Hui; Cohen Ronald N; Pohlenz Joachim; Weiss Roy E; Lebrethon Marie-Christine; Verloes Alain; Refetoff Samuel
A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.
The Journal of clinical endocrinology and metabolism 2005;90(3):1760-7.
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2005: Cohen David; Pichard Nadège; Tordjman Sylvie; Baumann Clarisse; Burglen Lydie; Excoffier Elsa; Lazar Gabriela; Mazet Philippe; Pinquier Clément; Verloes Alain; Héron Delphine
Specific genetic disorders and autism: clinical contribution towards their identification.
Journal of autism and developmental disorders 2005;35(1):103-16.
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2005: Blaise Pierre; Fumal Arnaud; Janin Nicolas; Verloes Alain; Moonen Gustave; Andris Cécile
Diffuse cortical atrophy in a patient with Turner syndrome and Leber hereditary optic neuropathy.
Journal of neurology 2005;252(2):232-3.
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2005: Dollfus H; Verloes A; Bonneau D; Cossée M; Perrin-Schmitt F; Brandt C; Flament J; Mandel J-L
[Update on Bardet-Biedl syndrome]
Journal français d'ophtalmologie 2005;28(1):106-12.
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2005: Armstrong Linlea; Abd El Moneim Azza; Aleck Kirk; Aughton David J; Baumann Clarisse; Braddock Stephen R; Gillessen-Kaesbach Gabriele; Graham John M; Grebe Theresa A; Gripp Karen W; Hall Bryan D; Hennekam Raoul; Hunter Alasdair; Keppler-Noreuil Kim; Lacombe Didier; Lin Angela E; Ming Jeffrey E; Kokitsu-Nakata Nancy Mizue; Nikkel Sarah M; Philip Nicole; Raas-Rothschild Annick; Sommer Annemarie; Verloes Alain; Walter Claudia; Wieczorek Dagmar; Williams Marc S; Zackai Elaine; Allanson Judith E
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
American journal of medical genetics. Part A 2005;132A(3):265-72.
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2004: Dollfus Hélène; Verloes Alain
Dysmorphology and the orbital region: a practical clinical approach.
Survey of ophthalmology 2004;49(6):547-61.
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2004: Keren B; Hadchouel A; Saba S; Sznajer Y; Bonneau D; Leheup B; Boute O; Gaillard D; Lacombe D; Layet V; Marlin S; Mortier G; Toutain A; Beylot C; Baumann C; Verloes A; Cavé H;
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.
Journal of medical genetics 2004;41(11):e117.
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2004: Gérard-Blanluet Marion; Romana S; Munier C; Le Lorc'h M; Kanafani S; Sinico M; Touboul C; Levaillant J M; Haddad B; Lopez N; Lelong F; De Villemeur T Billette; Verloes A; Borghi E
Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.
American journal of medical genetics. Part A 2004;130A(3):299-302.
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2004: Verloes Alain; Massin Martial; Fransolet Anne-Catherine; Misson Jean-Paul
Hypertrichosis, Fallot tetralogy, growth and developmental delay.
Clinical dysmorphology 2004;13(4):247-50.
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2004: Verloes A; Raoul M; Genevieve D; Sznajer Y; Demarche M; Lombet J; Rigo V; Misson J P; Collignon L; Vanwijck F; Vanwijck R
Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias.
Clinical dysmorphology 2004;13(4):205-11.
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2004: Navarro Claire L; De Sandre-Giovannoli Annachiara; Bernard Rafaëlle; Boccaccio Irène; Boyer Amandine; Geneviève David; Hadj-Rabia Smail; Gaudy-Marqueste Caroline; Smitt Henk Sillevis; Vabres Pierre; Faivre Laurence; Verloes Alain; Van Essen Ton; Flori Elisabeth; Hennekam Raoul; Beemer Frits A; Laurent Nicole; Le Merrer Martine; Cau Pierre; Lévy Nicolas
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
Human molecular genetics 2004;13(20):2493-503.
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2004: Mégarbané André; Daou Linda; Mégarbané Hala; Cave Hélène; Chouery Eliane; Verloes Alain
New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations.
American journal of medical genetics. Part A 2004;128A(4):414-7.
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2004: Verloes Alain
[Problems caused by genetic diseases. Part 3: Chromosomal disorders: trisomy 21]
La Revue du praticien 2004;54(12):1363-9.
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2004: Genevieve D; Baumann C; Huber C; Faivre L; Sanlaville D; Bodemer C; Hadj-Rabia S; Assoumou A; Verloes A; Raqbi F; Munnich A; Cormier-Daire V
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.
Journal of medical genetics 2004;41(6):e77.
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2004: Verloes Alain; Bitoun Pierre; Heuskin Anne; Amrom Dina; van de Broeck Hilde; Nikkel Sarah M; Chudley Albert E; Prasad Asuri N; Rusu Cristina; Covic Mircea; Toutain Annick; Moraine Claude; Parisi Melissa A; Patton Michael; Martin Jean-Jacques; Van Thienen Marie-Noelle
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.
American journal of medical genetics. Part A 2004;127A(3):277-87.
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2004: Shibamura Hidenori; Olson Jane M; van Vlijmen-Van Keulen Clarissa; Buxbaum Sarah G; Dudek Doreen M; Tromp Gerard; Ogata Toru; Skunca Magdalena; Sakalihasan Natzi; Pals Gerard; Limet Raymond; MacKean Gerald L; Defawe Olivier; Verloes Alain; Arthur Claudette; Lossing Alan G; Burnett Marjorie; Sueda Taijiro; Kuivaniemi Helena
Genome scan for familial abdominal aortic aneurysm using sex and family history as covariates suggests genetic heterogeneity and identifies linkage to chromosome 19q13.
Circulation 2004;109(17):2103-8.
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2003: Sznajer Yves; Baumann Clarisse; David Albert; Journel Hubert; Lacombe Didier; Perel Yves; Blouin Pascale; Segura Jean-François; Cezard Jean-Pierre; Peuchmaur Michel; Vulliamy Tomy; Dokal Inderjeet; Verloes Alain
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).
European journal of pediatrics 2003;162(12):863-7.
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2003: Gomot Marie; Gendrot Chantal; Verloes Alain; Raynaud Martine; David Albert; Yntema Helger G; Dessay Sabine; Kalscheuer Vera; Frints Suzanne; Couvert Philippe; Briault Sylvain; Blesson Sophie; Toutain Annick; Chelly Jamel; Desportes Vincent; Moraine Claude
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
American journal of medical genetics. Part A 2003;123A(2):129-39.
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2003: Verloes Alain; Misson Jean-Paul; Gillet Philippe; Baumann Clarisse; Spiritus Micheline; Deprez Manuel
Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?
Annales de génétique 2003;46(4):449-52.
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2003: Morin Gilles; Villemain Lucie; Baumann Clarisse; Mathieu Michèle; Blanc Nathalie; Verloes Alain
Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.
Clinical dysmorphology 2003;12(4):237-40.
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2003: Geneviève D; Sznajer Y; Raoul M; Sanlaville D; Verloes A; Portnoï M F; Bauman C
Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p).
American journal of medical genetics. Part A 2003;122A(2):180-2.
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2003: Rodríguez Laura; Martínez Guardia Nieves; Herens Christian; Jamar Mauricette; Verloes Alain; López Fermina; Santos Muñoz José; Martínez-Frías María Luisa
Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: three new cases and review.
American journal of medical genetics. Part A 2003;122A(2):119-24.
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2003: Baumann Clarisse; Garel Catherine; Vuillemain Lucille; Hassan Max; Verloes Alain
Severely delayed epiphyseal ossification dysplasia with normal stature.
American journal of medical genetics. Part A 2003;120A(4):553-6.
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2003: Burglen L; Héron D; Moerman A; Dieux-Coeslier A; Bourguignon J-P; Bachy A; Carel J-C; Cormier-Daire V; Manouvrier S; Verloes A
Myhre syndrome: new reports, review, and differential diagnosis.
Journal of medical genetics 2003;40(7):546-51.
-
2003: Massin Martial M; Verloes Alain
A congenital left ventricular diverticulum combined with a complex malformation syndrome.
Acta cardiologica 2003;58(3):207-8.
-
2003: Dupont Céline; Pipiras Eva; Chantot-Bastaraud Sandra; Verloes Alain; Baumann Clarisse; Wolf Jean-Philippe; Benzacken Brigitte
CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.
European journal of human genetics : EJHG 2003;11(6):452-6.
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2003: Kuivaniemi Helena; Shibamura Hidenori; Arthur Claudette; Berguer Ramon; Cole C William; Juvonen Tatu; Kline Ronald A; Limet Raymond; Mackean Gerry; Norrgård Orjan; Pals Gerard; Powell Janet T; Rainio Pekka; Sakalihasan Natzi; van Vlijmen-van Keulen Clarissa; Verloes Alain; Tromp Gerard
Familial abdominal aortic aneurysms: collection of 233 multiplex families.
Journal of vascular surgery : official publication, the Society for Vascular Surgery [and] International Society for Cardiovascular Surgery, North American Chapter 2003;37(2):340-5.
-
2003: El Ghouzzi Vincent; Dagoneau Nathalie; Kinning Esther; Thauvin-Robinet Christel; Chemaitilly Wassim; Prost-Squarcioni Catherine; Al-Gazali Lihadh I; Verloes Alain; Le Merrer Martine; Munnich Arnold; Trembath Richard C; Cormier-Daire Valérie
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
Human molecular genetics 2003;12(3):357-64.
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2002: Verloes Alain; Lepage Philippe; Baumann Clarisse; Maroteaux Pierre; Merrer Martine Le
Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae.
American journal of medical genetics 2002;113(4):362-6.
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2002: Faivre L; Le Merrer M; Lyonnet S; Plauchu H; Dagoneau N; Campos-Xavier A B; Attia-Sobol J; Verloes A; Munnich A; Cormier-Daire V
Clinical and genetic heterogeneity of Seckel syndrome.
American journal of medical genetics 2002;112(4):379-83.
-
2002: Vilain C; Van Regemorter N; Verloes A; David P; Van Bogaert P
Neuroimaging fails to identify asymptomatic carriers of familial porencephaly.
American journal of medical genetics 2002;112(2):198-202.
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2002: Kan Shih-hsin; Elanko Navaratnam; Johnson David; Cornejo-Roldan Laura; Cook Jackie; Reich Elsa W; Tomkins Susan; Verloes Alain; Twigg Stephen R F; Rannan-Eliya Sahan; McDonald-McGinn Donna M; Zackai Elaine H; Wall Steven A; Muenke Maximilian; Wilkie Andrew O M
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
American journal of human genetics 2002;70(2):472-86.
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2001: Campos-Xavier B; Saraiva J M; Savarirayan R; Verloes A; Feingold J; Faivre L; Munnich A; Le Merrer M; Cormier-Daire V
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease.
Human genetics 2001;109(6):653-8.
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2001: Riegel M; Baumer A; Jamar M; Delbecque K; Herens C; Verloes A; Schinzel A
Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.
Human genetics 2001;109(3):286-94.
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2001: Gérard-Blanluet M; Elbez A; Bazin A; Danan C; Verloes A; Janaud J C
Mosaic trisomy 15 and hemihypertrophy.
Annales de génétique 2001;44(3):143-8.
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2001: De Baere E; Dixon M J; Small K W; Jabs E W; Leroy B P; Devriendt K; Gillerot Y; Mortier G; Meire F; Van Maldergem L; Courtens W; Hjalgrim H; Huang S; Liebaers I; Van Regemorter N; Touraine P; Praphanphoj V; Verloes A; Udar N; Yellore V; Chalukya M; Yelchits S; De Paepe A; Kuttenn F; Fellous M; Veitia R; Messiaen L
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
Human molecular genetics 2001;10(15):1591-600.
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2001: Verloes A; Dresse M F; Keutgen H; Asplund C; Smith C I
Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.
American journal of medical genetics 2001;101(3):209-12.
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2001: Verloes A; Jamar M; Dideberg V; Herens C
Episphalosomic syndrome : a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens.
Annales de génétique 2001;44(2):59-62.
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2001: Couvert P; Bienvenu T; Aquaviva C; Poirier K; Moraine C; Gendrot C; Verloes A; Andrès C; Le Fevre A C; Souville I; Steffann J; des Portes V; Ropers H H; Yntema H G; Fryns J P; Briault S; Chelly J; Cherif B
MECP2 is highly mutated in X-linked mental retardation.
Human molecular genetics 2001;10(9):941-6.
-
2001: Massin M M; Verloes A
Images in cardiology: left-sided inferior vena cava.
Acta cardiologica 2001;56(1):41-2.
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2001: Plauchu H; Encha-Razavi F; Hermier M; Attia-Sobol J; Vitrey D; Verloes A
Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome.
American journal of medical genetics 2001;99(1):14-20.
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2001: Verloes A; Gillerot Y; Van Maldergem L; Schoos R; Herens C; Jamar M; Dideberg V; Lesenfants S; Koulischer L
Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?
European journal of human genetics : EJHG 2001;9(1):1-4.
-
2001: Verloes A; Lesenfants S
New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy.
Clinical dysmorphology 2001;10(1):29-31.
-
2000: Verloes A; Muller C; Philippet P
New dysostosis showing multilevel absence of vertebral pedicles: unique developmental anomaly of vertebral arches?
American journal of medical genetics 2000;95(5):473-6.
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2000: Verloes A; Lesenfants S; Jamar M; Dideberg V; Herens C
GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation.
American journal of medical genetics 2000;95(2):185-6.
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2000: Delbecque K; Lesenfants S; Verloes A; Boniver J
[How I investigate...fetal pathology. Technique and value of the fetal and placental examination and the perinatal autopsy]
Revue médicale de Liège 2000;55(7):745-50.
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2000: Verloes A; Lesenfants S
Agenesis of the corpus callosum, camptodactyly and obesity.
Clinical dysmorphology 2000;9(2):107-9.
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2000: Verloes A; Lesenfants S; Barr M; Grange D K; Journel H; Lombet J; Mortier G; Roeder E
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
American journal of medical genetics 2000;90(5):407-22.
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1999: Verloes A; Hermanns-Lê T; Lesenfants S; Lombet J; Lamotte P J; Crèvecoeur-Liégeois C; Duchesne B; Piérard G E
Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma.
American journal of medical genetics 1999;86(5):454-8.
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1999: Lesenfants S; Verloes A; Koulischer L
[Genetic counseling and prenatal diagnosis]
Revue médicale de Liège 1999;54(5):375-86.
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1999: Wang X; Tromp G; Cole C W; Verloes A; Sakalihasan N; Yoon S; Kuivaniemi H
Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms.
Matrix biology : journal of the International Society for Matrix Biology 1999;18(2):121-4.
-
1999: Massin M M; Verloes A
[Aorto-pulmonary collaterals in an infant with 22q11 monosomy]
Annales de cardiologie et d'angéiologie 1999;48(3):199-203.
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1998: Marquet F; Beckers A; Verloes A
[Genetic aspects of the 46, XX male]
Revue médicale de Liège 1998;53(12):738-40.
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1998: Verloes A; Curry C; Jamar M; Herens C; O'Lague P; Marks J; Sarda P; Blanchet P
Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association.
Journal of medical genetics 1998;35(11):943-7.
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1998: Marquet F; Verloes A; Beckers A
[Clinical case of the month. A male with 46,XX karyotype]
Revue médicale de Liège 1998;53(9):515-7.
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1998: Schoos R; Verloes A; Bourguignon J P; Koulischer L
[Programs of systematic screening in neonatology. Pharmaco-economic aspects]
Revue médicale de Liège 1998;53(5):311-5.
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1998: Gelb B D; Willner J P; Dunn T M; Kardon N B; Verloes A; Poncin J; Desnick R J
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.
American journal of human genetics 1998;62(4):848-54.
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1997: Herens C; Jamar M; Alvarez-Gonzalez M L; Lesenfants S; Lombet J; Bonnivert J; Koulischer L; Verloes A
Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome.
American journal of medical genetics 1997;73(2):127-31.
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1997: Verloes A; Massin M; Lombet J; Grattagliano B; Soyeur D; Rigo J; Koulischer L; Van Hoof F
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.
American journal of medical genetics 1997;72(2):135-42.
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1997: Koulischer L; Verloes A; Lesenfants S; Jamar M; Herens C
Genetic risk in natural and medically assisted procreation.
Early pregnancy : biology and medicine : the official journal of the Society for the Investigation of Early Pregnancy 1997;3(3):164-71.
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1997: Verloes A; Temple I K; Bonnet S; Bottani A
Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes.
American journal of medical genetics 1997;69(4):370-9.
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1997: Verloes A; Lesenfants S; Misson J P; Galand A; Koulischer L
Microcephaly, muscular build, rhizomelia, and cataracts: description of a possible recessive syndrome and some comments on the use of electronic databases in syndromology.
American journal of medical genetics 1997;68(4):455-60; discussion 461.
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1997: Verloes A; Lombet J; Lambert Y; Hubert A F; Deprez M; Fridman V; Gosseye S; Rigo J; Sokal E
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.
American journal of medical genetics 1997;68(4):391-5.
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1997: Verloes A; Lesenfants S
A new form of mandibulofacial dysostosis with macroblepharon and macrostomia.
Clinical dysmorphology 1997;6(1):21-4.
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1996: Verloes A; Sakalihasan N; Limet R; Koulischer L
Genetic aspects of abdominal aortic aneurysm.
Annals of the New York Academy of Sciences 1996;800():44-55.
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1996: Verloes A; Temple I K; Hubert A F; Hope P; Gould S; Debauche C; Verellen G; Deville J L; Koulischer L; Sokal E M
Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.
Journal of medical genetics 1996;33(6):444-9.
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1996: Verloes A; Jamblin P; Koulischer L; Bourguignon J P
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.
Clinical genetics 1996;49(1):2-5.
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1996: Verloes A; Lesenfants S; Philippet B; Iyawa A; Laloux F; Koulischer L
Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome.
Genetic counseling (Geneva, Switzerland) 1996;7(4):277-82.
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1995: Verloes A; David A; Odent S; Toutain A; André M J; Lucas J; Le Marec B
Opitz GBBB syndrome: chromosomal evidence of an X-linked form.
American journal of medical genetics 1995;59(1):123-8.
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1995: Verloes A; David A; Ngô L; Bottani A
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.
Journal of medical genetics 1995;32(8):605-11.
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1995: Verloes A; Misson J P; Dubru J M; Jamblin P; Le Merrer M
Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation.
Clinical dysmorphology 1995;4(3):208-15.
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1995: Verloes A; Massart B; Dehalleux I; Langhendries J P; Koulischer L
Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall.
Clinical genetics 1995;47(5):257-62.
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1995: Verloes A; Sakalihasan N; Koulischer L; Limet R
Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees.
Journal of vascular surgery : official publication, the Society for Vascular Surgery [and] International Society for Cardiovascular Surgery, North American Chapter 1995;21(4):646-55.
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1995: Verloes A
Numerical syndromology: a mathematical approach to the nosology of complex phenotypes.
American journal of medical genetics 1995;55(4):433-43.
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1995: Verloes A; Narcy F; Fallet-Bianco C
Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and müllerian regression: further delineation of a new syndrome?
Clinical dysmorphology 1995;4(1):33-7.
-
1995: Verloes A; David A
Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis.
American journal of medical genetics 1995;55(2):205-12.
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1995: Verloes A; Schoos R; Herens C; Vintens A; Koulischer L
A prenatal trisomy 21 screening program using alpha-fetoprotein, human chorionic gonadotropin, and free estriol assays on maternal dried blood.
American journal of obstetrics and gynecology 1995;172(1 Pt 1):167-74.
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1994: Verloes A; Narcy F; Grattagliano B; Delezoide A L; Guibaud P; Schaaps J P; Le Merrer M; Maroteaux P
Osteocraniostenosis.
Journal of medical genetics 1994;31(10):772-8.
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1994: Verloes A; Ernould C; Dubru J M; Malchair R; Koulischer L
Diabetes mellitus, mental retardation, lipodystrophy and dysmorphic traits.
Clinical dysmorphology 1994;3(2):160-3.
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1994: Verloes A
Hypertelorism-microtia-clefting (HMC) syndrome.
Genetic counseling (Geneva, Switzerland) 1994;5(3):283-7.
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1993: Hustinx R; Verloes A; Grattagliano B; Herens C; Jamar M; Soyeur D; Schaaps J P; Koulischer L
Monosomy 11q: report of two familial cases and review of the literature.
American journal of medical genetics 1993;47(3):312-7.
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1993: Verloes A; Bricteux G; Koulischer L
Pseudoaminopterin syndrome.
American journal of medical genetics 1993;46(4):394-7.
-
1993: Verloes A
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?
Journal of medical genetics 1993;30(5):425-6.
-
1993: Verloes A; Moës D; Palumbo L; Elmer C; François A; Bricteux G
Schinzel-Giedion syndrome.
European journal of pediatrics 1993;152(5):421-3.
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1993: Verloes A; Journel H; Elmer C; Misson J P; Le Merrer M; Kaplan J; Van Maldergem L; Deconinck H; Meire F
Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.
American journal of medical genetics 1993;46(2):132-7.
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1993: Verloes A; Bonneau D; Guidi O; Berthier M; Oriot D; Van Maldergem L; Koulischer L
Brachymorphism-onychodysplasia-dysphalangism syndrome.
Journal of medical genetics 1993;30(2):158-61.
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1993: Verloes A; Elmer C; Lacombe D; Heinrichs C; Rebuffat E; Demarquez J L; Moncla A; Adam E
Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.
European journal of pediatrics 1993;152(1):75-7.
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1992: Verloes A; Schoos R; Koulischer L
Non-radioactive assay of AFP, hCG, and uE3 from dried blood specimens: a low-cost alternative for maternal screening for trisomy 21.
Prenatal diagnosis 1992;12(12):1073-4.
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1992: Verloes A; Koulischer L
New oral-acral syndrome with partial agenesis of the maxillary bones.
American journal of medical genetics 1992;44(5):605-7.
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1992: Scalais E; Verloes A; Sacré J P; Piérard G E; Rizzo W B
Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.
Pediatric neurology 1992;8(6):459-65.
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1992: Verloes A; Hermia J P; Galand A; Koulischer L; Dodinval P
Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.
American journal of medical genetics 1992;44(1):48-51.
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1992: Verloes A; Gillerot Y; Langhendries J P; Fryns J P; Koulischer L
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.
American journal of medical genetics 1992;43(4):669-77.
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1992: Verloes A; Mulliez N; Gonzales M; Laloux F; Hermanns-Lê T; Piérard G E; Koulischer L
Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature.
American journal of medical genetics 1992;43(3):539-47.
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1992: Piérard-Franchimont C; Piérard G E; Hermanns-Lê T; Estrada J A; Verloes A; Mulliez N
Dermatopathological aspects of restrictive dermopathy.
The Journal of pathology 1992;167(2):223-8.
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1992: Van Maldergem L; Verloes A; Lejeune L; Gillerot Y
The Baller-Gerold syndrome.
Journal of medical genetics 1992;29(4):266-8.
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1992: Verloes A; Gillerot Y; Walczak E; Van Maldergem L; Koulischer L
Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).
American journal of medical genetics 1992;42(2):180-3.
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1992: van Maldergem L; Wetzburger C; Verloes A; Fourneau C; Gillerot Y
Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?
Clinical genetics 1992;41(1):22-4.
-
1992: Lapière J C; Verloes A; Herens C; Delfortrie J; Van Maldergem L; Gillerot Y; Koulischer L
Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child.
Genetic counseling (Geneva, Switzerland) 1992;3(3):155-9.
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1991: Koulischer L; Schoos R; Verloes A; Herens C
[Prenatal screening for trisomy 21 in maternal blood. Focus]
Revue médicale de Liège 1991;46(12):625-32.
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1991: Van Maldergem L; Espeel M; Roels F; Petit C; Dacremont G; Wanders R J; Verloes A; Gillerot Y
X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus.
Human genetics 1991;87(6):661-4.
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1991: Schoos R; Dodinval-Versie J; Verloes A; Lambotte C; Koulischer L
Enzyme immunoassay screening of alpha 1-antitrypsin in dried blood spots from 39 289 newborns.
Clinical chemistry 1991;37(6):821-5.
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1991: Verloes A; Aymé S; Gambarelli D; Gonzales M; Le Merrer M; Mulliez N; Philip N; Roume J
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.
Journal of medical genetics 1991;28(5):297-303.
-
1991: Verloes A; Le Merrer M; Farriaux J P; Maroteaux P
Metaphyseal acroscyphodysplasia.
Clinical genetics 1991;39(5):362-9.
-
1991: Verloes A; Schaaps J P; Herens C; Soyeur D; Hustin J; Dodinval P
Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome.
Prenatal diagnosis 1991;11(2):129-32.
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1991: Verloes A; Massart B; Jossa V; Langhendries J P; Hainaut H; Paquot J P; Koulischer L
Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia?
Annales de génétique 1991;34(1):25-6.
-
1991: Verloes A; Seret N; Bernier V; Gonzales M; Herens C; Koulischer L
Branchial arch anomalies in trisomy 18.
Annales de génétique 1991;34(1):22-4.
-
1991: Van Maldergem L; Avni F; Mossay B; Herens C; Verloes A; Gillerot Y
Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities.
Genetic counseling (Geneva, Switzerland) 1991;2(2):123-7.
-
1991: Verloes A; Dodinval P; Retz M C; Schaaps J P; Koulischer L
A hydropic fetus with translucent ribs, arthrogryposis multiplex congenita and congenital myopathy: etiological heterogeneity of A.M.C., Toriello-Bauserman type?
Genetic counseling (Geneva, Switzerland) 1991;2(1):63-6.
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1990: Verloes A; Pierard G E; Le Merrer M; Maroteaux P
Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia.
Journal of medical genetics 1990;27(11):693-6.
-
1990: Verloes A; Dodinval P; Koulischer L; Lambotte R; Bonnivert J
Etretinate embryotoxicity 7 months after discontinuation of treatment.
American journal of medical genetics 1990;37(3):437-8.
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1990: Verloes A; Dodinval P; Beco L; Bonnivert J; Lambotte C
Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs.
American journal of medical genetics 1990;37(1):119-23.
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1990: Herens C; Verloes A; Laloux F; Van Maldergem L
Trisomy 20q. A new case and further phenotypic delineation.
Clinical genetics 1990;37(5):363-6.
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1990: Verloes A; Dodinval P
Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.
Ophthalmic paediatrics and genetics 1990;11(1):41-7.
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1990: Verloes A; Frikiche A; Gremillet C; Paquay T; Decortis T; Rigo J; Senterre J
Proximal phocomelia and radial ray aplasia in fetal valproic syndrome.
European journal of pediatrics 1990;149(4):266-7.
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1990: van Maldergem L; Gillerot Y; Salmin E; Verloes A; Koulischer L
Lethal short-rib with median cleft and without polydactyly: a fourth case.
Pediatric radiology 1990;20(5):367-8.
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1990: Verloes A; Soyeur-Broux M; Arrese-Estrada J; Piérard-Franchimont C; Dodinval P; Piérard G E
Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome?
Dermatologica 1990;181(2):142-4.
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1990: Verloes A; Gillerot Y; Delfortrie J; Zeevaert-Arnold M T; Collard R; Koulischer L; Fryns J P
Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome?
Genetic counseling (Geneva, Switzerland) 1990;1(3-4):219-25.
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1989: Herens C; Pierquin G; Verloes A; Schaaps J P; Frederic J
Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery.
Prenatal diagnosis 1989;9(5):373-5.
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1989: Frikiche A; Verloes A; Stassen M; Schaaps J P; Soyeur D; Senterre J
[Ellis-Van Creveld syndrome. Apropos of a case diagnosed in utero]
Revue médicale de Liège 1989;44(2):68-72.
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1989: Verloes A; Herens C; Van Maldergem L; Retz M C; Dodinval P
Roberts-SC phocomelia syndrome with exencephaly.
Annales de génétique 1989;32(3):169-70.
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1988: Verloes A; Le Merrer M; Soyeur D; Kaplan J; Pangalos C; Rigo J; Briard M L
CFC syndrome: a syndrome distinct from Noonan syndrome.
Annales de génétique 1988;31(4):230-4.
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1987: Verloes A; Frederic J; Lambotte C
[The fragile X syndrome in 1987. Recent findings and review of the problem]
Revue médicale de Liège 1987;42(22):893-902.
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1987: Verloes A; Lambrechts L; Senterre J; Lambotte C
Microcephalic osteodysplastic dwarfism (type II-like) in siblings.
Clinical genetics 1987;32(2):88-94.
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1987: Verloes A; Guidi O; Frederic J; Lambotte C
Noonan and Klinefelter syndromes in a child.
American journal of medical genetics 1987;27(3):727-8.
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1987: Verloes A; Herens C; Lambotte C; Frederic J
Chromosome 22 mosaic monosomy (46,XY/45,XY,-22).
Annales de génétique 1987;30(3):178-9.
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