Association between tumor hypoxia and malignant progression in advanced cancer of the uterine cervix.

Michael Höckel, Karlheinz Schlenger, Bernard Aral, +3

PubMed

GynecologyUterine CervixGynecology OncologyTumor BiologyCarcinoma +15

Delineation of 15q13.3 microdeletions

Alice Masurel‐Paulet, Joris Andrieux, Patrick Callier, +31

Clinical Genetics

PsychiatryScientific Data ManagementCosmologyGeneticsSyndromic Autism +10

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Christel Thauvin‐Robinet, Jaclyn S Lee, Estelle Lopez, +26

Nature Genetics

Developmental AnomalyDevelopmental BiologyGenetic DisorderOral CavityGenetics +9

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac, Julien Thevenon, Lesley C. Adès, +35

The American Journal of Human Genetics

Developmental AnomalyIn-frame MutationsMendelian DisorderExon 1Genetic Disorder +4

Cohen syndrome is associated with major glycosylation defects

Laurence Duplomb, Sandrine Duvet, Damien Picot, +22

Human Molecular Genetics

GlycobiologyMolecular BiologyPathologyGlycosylation StatusGlycoproteomics +22

C5orf42 is the major gene responsible for OFD syndrome type VI

Estelle Lopez, Christel Thauvin‐Robinet, Bruno Reversade, +29

Human Genetics

Mendelian DisorderAutoimmune DiseaseDisease MechanismGenetic DisorderMedicine +10

Hyperinsulinism and Hyperammonemia Syndrome: Report of Twelve Unrelated Patients

Pascale de Lonlay, Chantal Benelli, Françoise Fouque, +10

Pediatric Research

Metabolic SyndromeAutoimmune DiseaseMetabolic DisorderDiabetesAdrenal Disease +5

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

Jean- Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, +17

European Journal of Human Genetics

Somatic VariantPigmentation DefectsGenetic DisorderGeneticsGenetic Epidemiology +7

Xq28 duplication including <i><scp>MECP2</scp></i> in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Salima El Chehadeh, Renaud Touraine, Fabienne Prieur, +40

Clinical Genetics

Intragenic <i>CAMTA1</i> rearrangements cause non-progressive congenital ataxia with or without intellectual disability

Julien Thévenon, Estelle Lopez, Boris Keren, +31

Journal of Medical Genetics