Genereviews
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GeneReviews® - NCBI Bookshelf
WEBSep 30, 2010 · genereviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Ncbi.nlm.nih.govLynch Syndrome - GeneReviews® - NCBI Bookshelf
WEBFeb 5, 2004 · Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate.
Ncbi.nlm.nih.govCystic Fibrosis - GeneReviews® - NCBI Bookshelf
WEBMar 26, 2001 · Cystic fibrosis (CF) affects the epithelia in several organs resulting in a complex, multisystem disease primarily involving the respiratory, gastrointestinal, genitourinary, and endocrine systems and the sweat glands.
Ncbi.nlm.nih.govGeneReviews ® [Internet] - PubMed
WEBgenereviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Pubmed.ncbi.nlm.nih.govFLNB Disorders - GeneReviews® - NCBI Bookshelf
WEBOct 9, 2008 · The FLNB disorders include a spectrum of phenotypes ranging from mild to severe. At the mild end are spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome; at the severe end are the phenotypic continuum of atelosteogenesis types I (AOI) and III (AOIII) and Piepkorn osteochondrodysplasia (POCD).
Ncbi.nlm.nih.govBeckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf
WEBMar 3, 2000 · Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia (persistent hypoglycemia or transient hypoglycemia due to hyperinsulinemia), macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, …
Ncbi.nlm.nih.govNeurofibromatosis 1 - GeneReviews® - NCBI Bookshelf
WEBOct 2, 1998 · Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems.
Ncbi.nlm.nih.govGeneReviews - Wikipedia
WEBgenereviews is an online database containing standardized peer-reviewed articles that describe specific heritable diseases. It was established in 1997 as GeneClinics by Roberta A Pagon (University of Washington) with funding from the National Institutes of …
En.wikipedia.orgHow well do you know GeneReviews®? - NCBI Insights
WEBAug 19, 2019 · How well do you know genereviews®? You may know . . . We offer expert-authored, peer-reviewed chapters on more than 750 genetic disorders. Our standardized format enables busy clinicians to readily find the information they need. Molecular genetic testing strategies are presented in the context of clinical care and genetic counseling …
Ncbiinsights.ncbi.nlm.nih.govSpinal Muscular Atrophy - GeneReviews® - NCBI Bookshelf
WEBFeb 24, 2000 · Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood.
Ncbi.nlm.nih.gov