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Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 2972 - 2980
textabstractWeaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In... 
histone methyl transferases | Weaver syndrome | EZH2 | Histone methyl transferases | METHYLATION | LYSINE-27 | ANOMALIES | B-CELL LYMPHOMAS | NEUROBLASTOMA | AUTOSOMAL-DOMINANT INHERITANCE | OVERGROWTH | GENETICS & HEREDITY | CERVICAL-SPINE | GIRL | Developmental Disabilities | Polycomb Repressive Complex 2 - genetics | Humans | Child, Preschool | Intellectual Disability - complications | Male | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Sotos Syndrome - physiopathology | Congenital Hypothyroidism - genetics | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Chromosome Deletion | Hand Deformities, Congenital - complications | Sotos Syndrome - genetics | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Enhancer of Zeste Homolog 2 Protein | Intellectual Disability - physiopathology | Phenotype | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Mutation | Growth Disorders - genetics | Congenital Hypothyroidism - complications | Growth Disorders - complications | Growth Disorders - physiopathology | Hernia | Histones | Genetic aspects | Phenotypes | Camptodactyly | Missense mutation | Intellectual disabilities | Histone methyltransferase | Data processing | Skin
Journal Article
Journal Article
Cancer Research, ISSN 0008-5472, 08/2007, Volume 67, Issue 15, pp. 7395 - 7405
Proteasome inhibitors sensitize tumor cells to DNA-damaging agents, including ionizing radiation (IR), and DNA crosslinking agents (melphalan and cisplatin)... 
MULTIPLE-MYELOMA | CELLS | REPAIR | GENOMIC STABILITY | PROTEIN | ONCOLOGY | 53BP1 | IN-VIVO | DOUBLE-STRAND BREAKS | ATM | S-PHASE CHECKPOINT | Gamma Rays | Humans | Ovarian Neoplasms - pathology | Ubiquitin - metabolism | Ovarian Neoplasms - metabolism | Phosphorylation - drug effects | Protein-Serine-Threonine Kinases - metabolism | Rad51 Recombinase - metabolism | Tumor Suppressor Proteins - metabolism | Bortezomib | DNA-Binding Proteins - antagonists & inhibitors | Signal Transduction | Cell Cycle Proteins - metabolism | Ataxia Telangiectasia Mutated Proteins | Blotting, Western | Proteasome Endopeptidase Complex - genetics | Leupeptins - pharmacology | Phosphorylation - radiation effects | BRCA1 Protein - antagonists & inhibitors | HeLa Cells | Proteasome Endopeptidase Complex - metabolism | Pyrazines - pharmacology | Proteasome Endopeptidase Complex - radiation effects | Fanconi Anemia Complementation Group D2 Protein - genetics | Tumor Suppressor Proteins - antagonists & inhibitors | Fanconi Anemia | Rad51 Recombinase - antagonists & inhibitors | Cell Cycle Proteins - antagonists & inhibitors | DNA-Binding Proteins - metabolism | Flow Cytometry | BRCA1 Protein - metabolism | Tumor Suppressor Proteins - genetics | Protein-Serine-Threonine Kinases - antagonists & inhibitors | Cell Cycle Proteins - genetics | Female | Nuclear Proteins - genetics | Rad51 Recombinase - genetics | RNA, Small Interfering - pharmacology | Cells, Cultured | Protein-Serine-Threonine Kinases - genetics | Fanconi Anemia Complementation Group D2 Protein - antagonists & inhibitors | Nuclear Proteins - metabolism | DNA-Binding Proteins - genetics | BRCA1 Protein - genetics | Fanconi Anemia Complementation Group D2 Protein - metabolism | DNA Repair | Nuclear Proteins - antagonists & inhibitors | Proteasome Inhibitors | DNA Damage - radiation effects | Microscopy, Fluorescence | Boronic Acids - pharmacology
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 01/2019, Volume 180, Issue 1, pp. 172 - 180
Summary Background Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological... 
MAMMALIAN TARGET | FACIO-CUTANEOUS SYNDROME | BRAF MUTATIONS | CFC SYNDROME | CLINICAL-FEATURES | KERATOSIS PILARIS | SCHOOL-CHILDREN | MELANOCYTIC NEVI | COSTELLO SYNDROME | NOONAN-SYNDROME | DERMATOLOGY | Hair | Phenotypes | Sirolimus | Systemic diseases | Dermatology | Skin | Mutation | Patients | Genotypes | Keratosis | Life Sciences
Journal Article
Journal Article
1934, Bibliothèque d'histoire coloniale, 2 p. l., [vii]-xxviii, 167, [1] p. ports., map.
Book
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2014, Volume 86, Issue 4, pp. 326 - 334
Journal Article
Canadian Medical Association Journal, ISSN 0820-3946, 2018, Volume 190, Issue 23, pp. E710 - E717
Journal Article
European Journal of Paediatric Neurology, ISSN 1090-3798, 2017, Volume 21, pp. e155 - e155
Journal Article