Alain Verloes

发表

CEMARA an information system for rare diseases

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

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

PEDIA: Prioritization of Exome Data by Image Analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018 .

CEMARA: a Web Dynamic Application Within a N-tier Architecture for Rare Diseases

Mohamed Ben Saïd, Paul Landais, Jean Philippe Jaïs, 2008, MIE.

[Table, GeneReview Scope].

Alain Verloes, Séverine Drunat, Daniela T. Pilz, 2015 .

Familial abdominal aortic aneurysms: collection of 233 multiplex families.

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

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

Richard Delorme, Alain Verloes, Marion Leboyer, 2012, European Journal of Human Genetics.

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

Alain Verloes, David Cohen, D. Cohen, 2005, Journal of autism and developmental disorders.

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.

Juvenile myelomonocytic leukaemia and Noonan syndrome

Corinne Alberti, Alain Verloes, Christine Chomienne, 2014, Journal of Medical Genetics.

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Sue Povey, Miikka Vikkula, Matthieu Schmittbuhl, 2013, Nephron Physiology.

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Véronique Geoffroy, Claire Redin, Corinne Stoetzel, 2012, Journal of Medical Genetics.

Many roads lead to primary autosomal recessive microcephaly

Pierre Gressens, Shyamala Mani, Alain Verloes, 2010, Progress in Neurobiology.

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

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

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

Christopher Gillberg, Richard Delorme, Alain Verloes, 2015, Molecular Autism.

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

Koichi Tabayashi, Kenji Kurosawa, Yoichi Matsubara, 2008, Journal of Human Genetics.

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

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.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Yoichi Matsubara, Alain Verloes, Alice Goldenberg, 2007, Journal of Medical Genetics.

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

Andrei L. Turinsky, Michael Brudno, Raveen Basran, 2017, American journal of human genetics.

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

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

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.