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Journal Article
Clinical Cancer Research, ISSN 1078-0432, 06/2017, Volume 23, Issue 12, pp. e83 - e90
In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the... 
GENOTYPE-PHENOTYPE CORRELATION | RUBINSTEIN-TAYBI-SYNDROME | SOTOS-SYNDROME | ONCOLOGY | SCHINZEL-GIEDION-SYNDROME | CAUSE NOONAN | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERM-CELL TUMOR | OF-FUNCTION MUTATIONS | CLINICAL-FEATURES | FACTOR-I TITF-1/NKX2.1 | Abnormalities, Multiple - pathology | Neoplastic Syndromes, Hereditary - pathology | Craniofacial Abnormalities - epidemiology | Sotos Syndrome - epidemiology | Colorectal Neoplasms - genetics | Humans | Brain Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Noonan Syndrome - pathology | Neoplastic Syndromes, Hereditary - epidemiology | Rubinstein-Taybi Syndrome - genetics | Congenital Hypothyroidism - genetics | Abnormalities, Multiple - epidemiology | Craniofacial Abnormalities - pathology | Thyroid Nuclear Factor 1 - genetics | Neoplastic Syndromes, Hereditary - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Intellectual Disability - epidemiology | Colorectal Neoplasms - epidemiology | Hand Deformities, Congenital - epidemiology | Sotos Syndrome - genetics | Costello Syndrome - pathology | Sotos Syndrome - pathology | Risk Factors | Intellectual Disability - pathology | Brain Neoplasms - genetics | Rubinstein-Taybi Syndrome - pathology | Noonan Syndrome - genetics | Nails, Malformed - genetics | Costello Syndrome - epidemiology | Costello Syndrome - genetics | Hand Deformities, Congenital - genetics | Nails, Malformed - epidemiology | Rubinstein-Taybi Syndrome - epidemiology | Congenital Hypothyroidism - pathology | Noonan Syndrome - epidemiology | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Colorectal Neoplasms - pathology | Congenital Hypothyroidism - epidemiology | Hand Deformities, Congenital - pathology | Brain Neoplasms - epidemiology | Brain | Physical examinations | Brain tumors | Health problems | Disorders | Health risks | Aciduria | Risk | Infants | Patients | K-Ras protein | Surveillance | Children | Health risk assessment | Thyroid transcription factor 1 | Metabolic disorders | Cancer
Journal Article
Nature Structural and Molecular Biology, ISSN 1545-9993, 11/2016, Volume 23, Issue 11, pp. 965 - 973
Mutations in TBC1D24 cause severe epilepsy and DOORS syndrome, but the molecular mechanisms underlying these pathologies are unresolved. We solved the crystal... 
2 SIBLINGS | ACTIVATING PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEURODEGENERATION | DROSOPHILA | PHOSPHOINOSITIDES | CELL BIOLOGY | HEARING-LOSS | BIOPHYSICS | HOMOZYGOUS TBC1D24 MUTATION | DOORS SYNDROME | DOMAINS | RAB GTPASES | Synaptic Vesicles - metabolism | Humans | Crystallography, X-Ray | Epilepsy - metabolism | rab GTP-Binding Proteins - genetics | Drosophila Proteins - metabolism | Drosophila melanogaster - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Drosophila melanogaster - metabolism | Hand Deformities, Congenital - metabolism | Synaptic Vesicles - chemistry | Protein Domains | Epilepsy - genetics | Phosphatidylinositols - metabolism | Carrier Proteins - analysis | Diffusion | Binding Sites | Craniofacial Abnormalities - metabolism | Craniofacial Abnormalities - genetics | Synaptic Vesicles - genetics | rab GTP-Binding Proteins - metabolism | Phosphoric Monoester Hydrolases - genetics | Hearing Loss, Sensorineural - metabolism | Nails, Malformed - metabolism | Synaptic Vesicles - ultrastructure | rab GTP-Binding Proteins - analysis | Models, Molecular | Hearing Loss, Sensorineural - genetics | Drosophila Proteins - analysis | Nerve Tissue Proteins - genetics | Nails, Malformed - genetics | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Hand Deformities, Congenital - genetics | Drosophila melanogaster - chemistry | Protein Conformation | Drosophila Proteins - genetics | Mutation | Phosphoric Monoester Hydrolases - metabolism | Mental disorders | Neurons | Epilepsy
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2014, Volume 47, Issue 1, pp. 73 - 77
Journal Article
Journal Article
Pediatrics, ISSN 0031-4005, 07/2000, Volume 106, Issue 1, pp. 135 - 137
Phornphutkul et al describe the case of an XY intersexual with microphallus who was assigned female gender shortly after birth. The patient was raised as a... 
PEDIATRICS | Pregnancy | Gender Identity | Disorders of Sex Development - psychology | Phenytoin - therapeutic use | Humans | Female | Male | Nails, Malformed - congenital | Penis - abnormalities | Syndrome | Case studies | Sex change | Gender identity | Sex differentiation disorders | Pediatrics | Birth defects | Sexual disorders | Sexuality
Journal Article
The Journal of Bone & Joint Surgery, ISSN 0021-9355, 06/1997, Volume 79, Issue 6, pp. 898 - 900
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, p. e51065
Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new spontaneous alleles of the Lmx1a gene in mice. Homozygous mutants show head tossing and... 
SEMICIRCULAR CANAL FORMATION | MULTIDISCIPLINARY SCIENCES | MICE | DIFFERENTIATION | HIPPOCAMPAL-FORMATION | DREHER GENE | MOUSE INNER-EAR | HOMEOBOX GENE | EXPRESSION | NAIL-PATELLA SYNDROME | SHAKER SHORT-TAIL | Embryonic Stem Cells - metabolism | Cochlea - embryology | Deafness - genetics | LIM-Homeodomain Proteins - metabolism | Genetic Complementation Test | Fibroblast Growth Factor 9 - genetics | Vestibule, Labyrinth - abnormalities | Point Mutation - genetics | Forkhead Transcription Factors - metabolism | Gene Expression Regulation, Developmental | Mice, Mutant Strains | Base Sequence | RNA Splicing - genetics | Vestibule, Labyrinth - embryology | Gene Transfer Techniques | Cochlea - physiopathology | Vestibule, Labyrinth - physiopathology | Deafness - physiopathology | Exons - genetics | Transcription Factors - genetics | Vestibule, Labyrinth - pathology | Forkhead Transcription Factors - genetics | Deafness - pathology | Fibroblast Growth Factor 9 - metabolism | Transcription Factors - metabolism | Homozygote | LIM-Homeodomain Proteins - genetics | Phenotype | Animals | Cochlea - pathology | Alleles | Hearing - physiology | Mice | Cochlea - abnormalities | Neurosciences | Transcription factors | Brain stem | Gene deletion | Inner ear | Defects | Gene sequencing | Homeobox | Morphogenesis | Genotype & phenotype | Clonal deletion | Rodents | Ear canal | Deletion | Complementation | Vestibular system | Deoxyribonucleic acid--DNA | Deafness | Semicircular canals | Ducts | Base pairs | Canals | Patches (structures) | pax2 protein | Abdomen | Hearing loss | Mutants | Homozygotes | Morphology | Point mutation | Ear | Stem cells | Cochlea | Mutation | Auditory defects | DNA sequencing | Deoxyribonucleic acid | DNA
Journal Article