A. Verloes

Christopher Gillberg, Alain Verloes, Marion Leboyer, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication

A. Verloes, M. Gérard, A. Aboura, 2012, American journal of medical genetics. Part A.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.

gene MED12 missense mutation (p.N1007S) in the The original Lujan syndrome family has a novel

M. Stratton, S. Edkins, J. Teague, 2008 .

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly

C. Delanoé, A. Verloes, M. Schiff, 2017, American journal of medical genetics. Part A.

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

J. Mosser, A. Toutain, A. Verloes, 2010, European journal of medical genetics.

Autism, language delay and mental retardation in a patient with 7q11 duplication

M. Leboyer, C. Betancur, C. Depienne, 2007, Journal of Medical Genetics.

CBP/EP300-dependent acetylation and stabilization of HSF2 are compromised in the rare disorder, Rubinstein-Taybi syndrome

Madeline A. Lancaster, P. Fergelot, F. Miozzo, 2018, bioRxiv.

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

K. Shirahige, T. Akiyama, P. Gressens, 2016, American journal of human genetics.

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

A. Munnich, J. Casanova, J. Tolmie, 2011, Nature Genetics.

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.

K. Devriendt, G. Mortier, E. Jabs, 2001, Human molecular genetics.

Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae.

A. Verloes, C. Baumann, M. Merrer, 2002, American journal of medical genetics.

Mosaicism of 46,XX/47,XX,+9/47,XX,+?mar in the same amniotic fluid with apparent loss of one cell line after delivery

A. Verloes, G. Pierquin, J. Schaaps, 1989, Prenatal diagnosis.

Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

A. Verloes, M. Gonzalès, F. Encha-Razavi, 2005, American journal of medical genetics. Part A.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

LEF1 haploinsufficiency causes ectodermal dysplasia

J. Vermeesch, A. Verloes, C. Dupont, 2020, Clinical genetics.

Cytogenetic study of bovine oocytes matured in vitro.

L. Koulischer, A. Verloes, J. Beckers, 1995, Theriogenology.

SOTOS SYNDROME AND FRAGILE X CHROMOSOMES

A. Verloes, F. Geubelle, J. Sacré, 1987, The Lancet.

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

L. Koulischer, A. Verloes, A. Galand, 1997, American journal of medical genetics.

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

H. Cavé, A. Verloes, C. Baumann, 2012, American journal of medical genetics. Part A.

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

P. Gressens, A. Toutain, N. Chassaing, 2012, European Journal of Human Genetics.

Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestations.

A. Verloes, A. Briand-Suleau, L. Tosca, 2015, European journal of medical genetics.

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome

D. Cohen, A. Verloes, G. Anderson, 2013, Molecular Autism.

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

C. Barthélémy, S. Julia, A. Toutain, 2014, Molecular Syndromology.

Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias

A. Verloes, J. Lombet, L. Collignon, 2004, Clinical dysmorphology.

Genome Scan for Familial Abdominal Aortic Aneurysm Using Sex and Family History as Covariates Suggests Genetic Heterogeneity and Identifies Linkage to Chromosome 19q13

G. Pals, H. Kuivaniemi, G. Tromp, 2004, Circulation.

Mesomelic dysplasia with acral synostoses Verloes–David–Pfeiffer type: Follow‐up study documents progressive clinical course

G. Mortier, A. Verloes, F. Plasschaert, 2009, American journal of medical genetics. Part A.

Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis.

A. Verloes, A. David, 1995, American journal of medical genetics.

Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.

S. Gould, L. Koulischer, A. Verloes, 1996, Journal of medical genetics.

Failure of ossification of the occipital bone in mandibuloacral dysplasia type B

D. Lipsker, A. Verloes, J. Kohlhase, 2016, American journal of medical genetics. Part A.

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

R. Hennekam, A. Verloes, N. Lévy, 2004, Human molecular genetics.

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

A. Verloes, J. Mercier, A. David, 1996, American journal of medical genetics.

Familial CHARGE syndrome because of CHD7 mutation: clinical intra‐ and interfamilial variability

A. Verloes, S. Lyonnet, C. Baumann, 2007, Clinical genetics.

Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

R. Pfundt, B. D. de Vries, C. Gilissen, 2021, European Journal of Medical Genetics.

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

J. Mandel, A. Verloes, A. Boland, 2018, European Journal of Human Genetics.

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

C. V. van Ravenswaaij-Arts, A. Verloes, L. Faivre, 2020, Clinical genetics.

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

J. Melki, N. Philip, Salima El-Chehadeh, 2019, European Journal of Human Genetics.

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder

P. Gressens, A. Verloes, N. Marziliano, 2018, Clinical genetics.

Abnormal muscle development of the diaphragm in a fetus with 2p14–p16 duplication

J. Oury, A. Verloes, A. Aboura, 2009, American journal of medical genetics. Part A.

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Trevor J Pugh, L. Pennacchio, J. Priest, 2015, Human mutation.

Numerical syndromology: a mathematical approach to the nosology of complex phenotypes.

A. Verloes, 1995, American journal of medical genetics.

Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.

Y. Gillerot, L. Koulischer, J. Fryns, 1992, American journal of medical genetics.

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

A. Verloes, G. Neri, C. Lambotte, 1989, American journal of medical genetics.

Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction

E. Krüger, S. Auvin, A. Verloes, 2019, Clinical genetics.

Congenital absence of the left pericardium and diaphragmatic defect in sibs.

A. Verloes, M. Gonzalès, L. Perrin, 2010, European journal of medical genetics.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

E. Zackai, H. Hakonarson, C. Saunders, 2019, European journal of medical genetics.

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

A. Toutain, A. Verloes, B. Gérard, 2021, Human mutation.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy.

A. Verloes, S. Lesenfants, Alain Verloes, 2001, Clinical dysmorphology.

Hypertelorism-microtia-clefting (HMC) syndrome.

A. Verloes, 1994, Genetic counseling.

Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey–Fineman–Ziter syndrome

M. Patton, A. Toutain, A. Verloes, 2004, American journal of medical genetics. Part A.

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients.

R. Weksberg, R. Hennekam, L. Biesecker, 2013, European journal of cancer.

Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia.

A. Verloes, G. Piérard, M. le Merrer, 1990, Journal of medical genetics.

[Genetic and clinical aspects of lissencephaly].

M. Elmaleh, P. Gressens, A. Laquérriere, 2007, Revue neurologique.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

E. Zackai, J. Lupski, R. Gibbs, 2020, Genetics in Medicine.

Recurrent insertional polydactyly and situs inversus in a Bardet‐Biedl syndrome family

E. Souied, A. Verloes, H. Dollfus, 2007, American journal of medical genetics. Part A.

Terminal 4q deletion and 8q duplication in a patient with CHARGE-like features.

A. Verloes, O. Khalifa, C. Walter, 2011, European journal of medical genetics.

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

A. Verloes, C. Baumann, S. Chantot-Bastaraud, 2003, European Journal of Human Genetics.

Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24.

R. Winter, A. Verloes, M. Dixon, 1997, Human molecular genetics.

Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

N. Philip, A. Verloes, D. Lacombe, 2020, Clinical genetics.

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis

J. Rivière, A. Verloes, J. Thevenon, 2017, Clinical genetics.

Poikiloderma, alopecia, retrognathism and cleft palate: the PARC syndrome. Is this an undescribed dominantly inherited syndrome?

A. Verloes, G. Piérard, C. Piérard‐franchimont, 1990, Dermatologica.

De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia

P. Gressens, H. Cavé, A. Verloes, 2022, British journal of haematology.

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

A. Verloes, J. Lombet, J. Rigo, 1997, American journal of medical genetics.

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

A. Mégarbané, L. Mourey, A. Verloes, 2015, Orphanet Journal of Rare Diseases.

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

M. Dorschner, Daniel Bates, I. Glass, 2009, Journal of Medical Genetics.

Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.

N. Boddaert, G. Mollet, O. Gribouval, 2014, American Journal of Human Genetics.

Bruck syndrome: neonatal presentation and natural course in three patients

Y. Gillerot, A. Verloes, A. De Paepe, 1998, Pediatric Radiology.

MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.

A. Verloes, C. Philippe, P. Jonveaux, 2003 .

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

J. Laplanche, A. Verloes, C. Herlin, 2013, European Journal of Human Genetics.

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

R. Touraine, A. Verloes, M. Vazquez, 2009, Prenatal diagnosis.

A new form of mandibulofacial dysostosis with macroblepharon and macrostomia

A. Verloes, SYLVIANE LESENFANTS, 1997, Clinical dysmorphology.

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

B. Harding, P. Gressens, F. Di Cunto, 2016, American journal of human genetics.

Clinical overlap of OFD type IX with Pallister–Killian syndrome (tetrasomy 12p)

A. Verloes, D. Geneviève, D. Sanlaville, 2003, American Journal of Medical Genetics. Part A.

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

A. Toutain, J. Fryns, A. Verloes, 1998, American journal of medical genetics.

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

L. Koulischer, A. Verloes, M. Meurisse, 1999, Human mutation.

Orofaciodigital syndrome with cerebral dysgenesis

C. Fallet-Bianco, A. Verloes, G. Lesca, 2006, American journal of medical genetics. Part A.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

A congenital left ventricular diverticulum combined with a complex malformation syndrome

A. Verloes, M. Massin, 2003, Acta cardiologica.

Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?

Y. Gillerot, L. Koulischer, V. Dideberg, 2001, European Journal of Human Genetics.

Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature.

L. Koulischer, A. Verloes, M. Gonzalès, 1992, American journal of medical genetics.

Dermatopathological aspects of restrictive dermopathy

A. Verloes, G. Piérard, C. Piérard‐franchimont, 1992, The Journal of pathology.

Plasma amino acid concentrations in term infants fed human milk, a whey-predominant formula, or a whey hydrolysate formula.

A. Verloes, J. Rigo, J. Senterre, 1989, The Journal of pediatrics.

Pfeiffer syndrome type 2: further delineation and review of the literature.

J. Fryns, A. Verloes, A. Plomp, 1998, American journal of medical genetics.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

A. Munnich, S. Julia, A. Toutain, 2019, Genetics in Medicine.

Myhre syndrome: new reports, review, and differential diagnosis

A. Verloes, J. Bourguignon, V. Cormier-Daire, 2003, Journal of medical genetics.

Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.

L. Koulischer, A. Verloes, A. Galand, 1992, American journal of medical genetics.

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation

C. Bodemer, A. Munnich, A. Verloes, 2004, Journal of Medical Genetics.

Genetic Aspects of Abdominal Aortic Aneurysm

L. Koulischer, A. Verloes, N. Sakalihasan, 1996, Annals of the New York Academy of Sciences.

Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees.

L. Koulischer, A. Verloes, N. Sakalihasan, 1995, Journal of vascular surgery.

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

H. Blanché, A. Duval, R. Hamelin, 2015, Gastroenterology.

Familial abdominal aortic aneurysms: collection of 233 multiplex families.

Gerard Tromp, Helena Kuivaniemi, Ramon Berguer, 2003, Journal of vascular surgery.

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

Golder N Wilson, N. Philip, J. Fryns, 1994, European Journal of Pediatrics.

Dyggve–Melchior–Clausen syndrome: novel splice mutation with atlanto-axial subluxation

A. Verloes, O. Khalifa, M. Al-Owain, 2010, European Journal of Pediatrics.

MECP2 is highly mutated in X-linked mental retardation.

H. Ropers, J. Fryns, A. Verloes, 2001, Human molecular genetics.

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.

A. Verloes, F. Meire, H. Journel, 1993, American journal of medical genetics.

Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?

A. Verloes, C. Baumann, P. Gillet, 2003, Annales de genetique.

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

A. Verloes, S. Drunat, S. Ünal, 2014, European journal of medical genetics.

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

R. Hustinx, L. Koulischer, A. Verloes, 1993, American journal of medical genetics.

Nasu-Hakola syndrome: polycystic lipomembranous osteodysplasia withsclerosing leucoencephalopathy

B. Sadzot, A. Verloes, G. Franck, 1997 .

Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

A. Rump, A. Verloes, N. Donato, 2013, European Journal of Human Genetics.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

N. Philip, A. Verloes, C. Lejeune, 2020, European journal of medical genetics.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

A familial syndromal form of omphalocele.

A. Verloes, B. Gérard, F. Escande, 2011, European journal of medical genetics.

Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias and skeletal abnormalities.

Y. Gillerot, A. Verloes, F. Avni, 1991, Genetic Counseling.

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, R. Rodenburg, M. Coenen, 2021, European journal of human genetics : EJHG.

MECP2 Mutations or Polymorphisms in Mentally Retarded Boys

A. Verloes, C. Philippe, P. Jonveaux, 2012, Molecular Diagnosis.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening

A. Verloes, M. Gonzalès, M. Gerard-Blanluet, 2007, Prenatal diagnosis.

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.

V. Bours, A. Verloes, V. El Ghouzzi, 2019, European journal of medical genetics.

DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype

A. Verloes, T. Leblanc, M. Doco‐Fenzy, 2017, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Chromosome 1 p 36 deletions Author : Doctor

A. Verloes, A. Slavotinek, 2003 .

Brachymorphism-onychodysplasia-dysphalangism syndrome.

L. Koulischer, A. Verloes, D. Bonneau, 1993, Journal of medical genetics.

Osteocraniostenosis vs. severe Hallermann-Streiff-François syndrome.

A. Verloes, 1997, American journal of medical genetics.

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

A. Verloes, C. Baumann, M. Gerard-Blanluet, 2008, American journal of medical genetics. Part A.

Introducing the COVID-19 crisis Special Education Needs Coping Survey

Andreia P. Costa, S. Bölte, P. Lavenex, 2021 .

3C syndrome: third occurrence of cranio‐cerebello‐cardiac dysplasia (Ritscher‐Schinzel syndrome)

A. Verloes, M. Dresse, F. Geubelle, 1989, Clinical genetics.

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?

A. Verloes, C. Baumann, L. Titomanlio, 2005, American journal of medical genetics. Part A.

Nosology of fetal hypokinesia sequence based on CNS abnormalities: is there an Aase‐Smith syndrome?

A. Verloes, A. David, J. Rival, 1996, Clinical genetics.

Clinical and genetic heterogeneity of Seckel syndrome.

A. Munnich, A. Verloes, S. Lyonnet, 2002, American journal of medical genetics.

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

L. Koulischer, A. Verloes, R. Schoos, 1995, American journal of obstetrics and gynecology.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

I Scala, Alain Verloes, M. Elmaleh, 2009, Neurology.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Bardet-Biedl Syndrome and Brain Abnormalities

A. Verloes, C. Rooryck, D. Lacombe, 2007, Neuropediatrics.

CEMARA an information system for rare diseases

Mohamed Ben Saïd, Paul Landais, Jean Philippe Jaïs, 2010, MedInfo.

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

W. Huttner, P. Gressens, S. Eliez, 2016, Cortex.

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

Y. Gillerot, H. Brunner, A. Verloes, 2006, American journal of medical genetics. Part A.

Hartsfield holoprosencephaly–ectrodactyly syndrome in five male patients: Further delineation and review

G. Mortier, A. Verloes, C. Baumann, 2009, American journal of medical genetics. Part A.

Clinical utility gene card for: Rothmund–Thomson syndrome

A. Verloes, L. Larizza, G. Roversi, 2012, European Journal of Human Genetics.

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

R. Touraine, A. Verloes, B. Gilbert-Dussardier, 2019, Orphanet Journal of Rare Diseases.

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Martin S. Taylor, M. Hurles, C. Anderson, 2014, American journal of human genetics.

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Véronique Geoffroy, Corinne Stoetzel, Uwe Strähle, 2015, American journal of human genetics.

Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification

Jean-Francois Mangin, David Germanaud, Julien Lefèvre, 2014, NeuroImage.

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

M. Elmaleh, A. Verloes, C. Baumann, 2005, European journal of medical genetics.

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

A. Verloes, A. Bottani, A. David, 1995, Journal of medical genetics.

patient with 7q11 duplication Autism, language delay and mental retardation in a

M. Leboyer, C. Betancur, C. Depienne, 2007 .

Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?

H. Cavé, A. Verloes, M. Tauber, 2010, European journal of medical genetics.

Genetic risk in natural and medically assisted procreation.

L. Koulischer, A. Verloes, M. Jamar, 1997, Early pregnancy : biology and medicine : the official journal of the Society for the Investigation of Early Pregnancy.

Infantile systemic hyalinosis: a report of two new cases, one with prolonged survival

A. Verloes, M. Besnard, N. Elenga, 2017, European Journal of Dermatology.

Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.

A. Verloes, C. I. Smith, M. Dresse, 2001, American journal of medical genetics.

Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders

P. Gressens, A. Verloes, S. Drunat, 2013 .

Mental retardation with blepharo‐naso‐facial abnormalities and hand malformations: a new syndrome?

Y. Gillerot, A. Verloes, L. Maldergem, 1992, Clinical genetics.

Branchial arch anomalies in trisomy 18.

L. Koulischer, A. Verloes, N. Seret, 1991, Annales de Genetique.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

D. Horn, H. Hennies, D. Chitayat, 2005, Journal of Medical Genetics.

Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).

Y. Gillerot, L. Koulischer, A. Verloes, 1992, American journal of medical genetics.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

J. Hurst, C. Farra, A. Toutain, 2019, European Journal of Human Genetics.

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

P. Calvas, N. Chassaing, A. Verloes, 2020, European Journal of Human Genetics.

Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.

A. Verloes, W. Rizzo, G. Piérard, 1992, Pediatric neurology.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

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

E. Roeder, G. Mortier, A. Verloes, 2000, American journal of medical genetics.

Correction: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2015, Nature Genetics.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

S. Grimmond, R. Taft, A. Verloes, 2014, Nature Genetics.

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

A. Verloes, R. Van Coster, S. Janssens, 1998, Prenatal diagnosis.

Proximal phocomelia and radial ray aplasia in fetal valproic syndrome

A. Verloes, J. Rigo, J. Senterre, 2005, European Journal of Pediatrics.

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

K. Devriendt, G. Mortier, H. Van Esch, 2021, Molecular genetics & genomic medicine.

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

C. Garel, J. Oury, A. Verloes, 2005, American journal of medical genetics. Part A.

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion

L. Kremer, A. Verloes, A. Echaniz-Laguna, 2019, neurogenetics.

Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome

R. Hennekam, A. Verloes, S. Mazoyer, 2016, Clinical genetics.

Trisomy 20q. A new case and further phenotypic delineation

A. Verloes, L. Maldergem, C. Herens, 1990, Clinical genetics.

Neurological outcome in WDR62 primary microcephaly

S. Auvin, A. Verloes, V. El Ghouzzi, 2021, Developmental medicine and child neurology.

ASPM Primary Microcephaly

A. Verloes, S. Drunat, S. Passemard, 1993 .

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, NPJ Genomic Medicine.

Further delineation of the Verloes-Koulischer-oro-acral syndrome.

A. Verloes, D. D. de Silva, 1998, American journal of medical genetics.

New oral-acral syndrome with partial agenesis of the maxillary bones.

L. Koulischer, A. Verloes, 1992, American journal of medical genetics.

Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome.

L. Koulischer, A. Verloes, S. Lesenfants, 1996, Genetic Counseling.

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

J. Fryns, A. Verloes, K. Keymolen, 2000, American journal of medical genetics.

Phenotypic variability in van der Woude syndrome.

A. Verloes, D. Lacombe, J. Pedespan, 1995, Genetic counseling.

Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement.

A. Verloes, J. Dufier, L. Van Maldergem, 1990, Journal of medical genetics.

Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases.

I. Casteels, A. Verloes, F. Meire, 1996, Bulletin de la Societe belge d'ophtalmologie.

High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis

A. Verloes, V. Cormier-Daire, J. Carel, 2003, Journal of medical genetics.

Myhre-GOMBO syndrome: possible lumping of two "old" new syndromes.

A. Verloes, A. Bottani, 1995, American journal of medical genetics.

A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.

A. Verloes, R. Weiss, S. Refetoff, 2005, The Journal of clinical endocrinology and metabolism.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American Journal of Medical Genetics Part A.

RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

T. Sanger, E. Bertini, M. Koenig, 2008, Clinical genetics.

Lethal short-rib with median cleft and without polydactyly: A fourth case

Y. Gillerot, L. Koulischer, A. Verloes, 2005, Pediatric Radiology.

Microcephalic osteodysplastic dwarfism (Type ll‐like) in siblings

A. Verloes, J. Senterre, C. Lambotte, 1987, Clinical genetics.

Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?

A. Verloes, 1993, Journal of medical genetics.

Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation

A. Verloes, M. Merrer, J. Misson, 1995, Clinical dysmorphology.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

H. Cavé, A. Verloes, H. Ohashi, 2008, Journal of Human Genetics.

Strong Top-Down Control in Southern California Kelp Forest Ecosystems

B. Teh, A. Verloes, A. Beckers, 2006 .

Etretinate embryotoxicity 7 months after discontinuation of treatment.

L. Koulischer, A. Verloes, R. Lambotte, 1990, American journal of medical genetics.

Smith-Magenis Syndrome

A. Verloes, H. Leersnyder, 2020, Definitions.

The development of a clinical screening tool for tumour predisposition syndromes in childhood cancer patients

R. Weksberg, R. Hennekam, L. Biesecker, 2013 .

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

Fryns- Aftimos Syndrome A Case Report and Literature Review

A. Verloes, A. Kariminejad, P. Namiranian, 2015 .

Episphalosomic syndrome : a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens.

A. Verloes, M. Jamar, C. Herens, 2001, Annales de genetique.

A new lysosomal storage disorder resembling Morquio syndrome in sibs.

B. Ilharreborde, A. Verloes, V. El Ghouzzi, 2012, European journal of medical genetics.

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

L. Koulischer, A. Verloes, J. Lombet, 1997, American journal of medical genetics.

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, C. Lambotte, J. Bonnivert, 1990, American journal of medical genetics.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

Absence of microcephalin gene mutations in a large cohort of non‐consanguineous patients with autosomal recessive primary microcephaly

A. Verloes, E. Scarpato, G. Andria, 2010, American journal of medical genetics. Part A.

A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly

L. Koulischer, A. Verloes, J. Bourguignon, 1996, Clinical genetics.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human Mutation.

Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

H. Cavé, A. Verloes, D. Lacombe, 2016, European journal of endocrinology.

VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling.

C. Verney, P. Gressens, A. Verloes, 2011, The Journal of clinical investigation.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

N. Katsanis, A. Mégarbané, N. Philip, 2010, Human Genetics.

Juvenile myelomonocytic leukaemia and Noonan syndrome

A. Baruchel, H. Cavé, S. Gazal, 2014, Journal of Medical Genetics.

Hypertrichosis, Fallot tetralogy, growth and developmental delay.

A. Verloes, M. Massin, J. Misson, 2004, Clinical dysmorphology.

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

L. Biesecker, J. Johnston, A. Verloes, 2009, European Journal of Human Genetics.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

A. Verloes, D. Lacombe, A. David, 1999, Journal of medical genetics.

[Update on Bardet-Biedl syndrome].

M. Cossée, J. Mandel, A. Verloes, 2005, Journal francais d'ophtalmologie.

Beckwith–Wiedemann syndrome and long QT syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

A. Verloes, C. Baumann, I. Denjoy, 2013, Clinical genetics.

GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation.

A. Verloes, M. Jamar, C. Herens, 2000, American journal of medical genetics.

GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: a possible "new" recessively inherited MCA/MR syndrome.

A. Verloes, F. Fraser, C. Lambotte, 1989, American journal of medical genetics.

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

A. Verloes, C. Baumann, N. Blanc, 2003, Clinical dysmorphology.

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

A. Toutain, A. Verloes, L. Pasquier, 2015, American journal of medical genetics. Part A.

Microcephaly.

A. Verloes, A. Kaindl, S. Passemard, 2013, Handbook of clinical neurology.

Prenatal findings in cardio‐facio‐cutaneous syndrome

H. Cavé, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.

Brachymorphism-onychodysplasia-dysphalangism syndrome.

L. Koulischer, A. Verloes, D. Bonneau, 1993, Journal of medical genetics.