Pedigree
Research News and Information

Saturday, November 21, 2009

Autosomal dominant junctional epidermolysis bullosa.

14 Dec 2009 BACKGROUND: Epidermolysis bullosa (EB) encompasses a heterogeneous group of inherited skin disorders associated with trauma-induced blistering. The junctional forms of EB (JEB), Herlitz JEB, non-Herlitz JEB and JEB associated with pyloric atresia ... Read more...

Familial small cell carcinoma of the ovary.

13 Dec 2009 Ovarian tumors have a low incidence in childhood, accounting for 1% of malignancies within the ages of 0-17 years. Small cell carcinoma of the ovary is a rare histology and historically has a poor prognosis. We report a case of an 11-year-old female ... Read more...

Normal spermatogenesis in a man with mutant luteinizing hormone.

3 Nov 2009 Men with mutations in LHB, the gene encoding the beta subunit of luteinizing hormone (LHB), have azoospermia with absent or few fetal Leydig cells. We report a mutation in LHB in a man and his sister. The man presented with absence of virilization, ... Read more...

Latest indexed articles for 'Pedigree'

These are the very latest articles for this heading:

• Autosomal dominant junctional epidermolysis bullosa. 14 Dec 2009
• Familial small cell carcinoma of the ovary. 13 Dec 2009
• Normal spermatogenesis in a man with mutant luteinizing hormone. 3 Nov 2009
• Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. 30 Oct 2009
• A new macular dystrophy with anomalous vascular development, pigment spots, cystic spaces, and neovascularization. 30 Oct 2009
• Vascular factors and markers of inflammation in offspring with a parental history of late-onset Alzheimer disease. 30 Oct 2009
• More on Schnyder corneal dystrophy. 30 Oct 2009
• Human dectin-1 deficiency and mucocutaneous fungal infections. 27 Oct 2009
• A homozygous CARD9 mutation in a family with susceptibility to fungal infections. 27 Oct 2009
• Risk of pancreatic cancer in families with Lynch syndrome. 26 Oct 2009
• X-linked thrombophilia with a mutant factor IX (factor IX Padua). 20 Oct 2009
• Implications of hypertrophic cardiomyopathy transmitted by sperm donation. 19 Oct 2009
• Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. 18 Oct 2009
• Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. 11 Oct 2009
• Maternal high-fat diet promotes body length increases and insulin insensitivity in second-generation mice. 7 Oct 2009
• Finding the missing heritability of complex diseases. 6 Oct 2009
• A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. 29 Sep 2009
• X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions. 29 Sep 2009
• Helicobacter pylori infection and family history of gastric cancer decrease expression of FHIT tumor suppressor gene in gastric mucosa of dyspeptic patients. 29 Sep 2009
• Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. 29 Sep 2009

See a longer list of these articles.

Technical information about 'Pedigree'

Definition: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

Descriptor UI: D010375

Alternative terms: Pedigree; Identity, Genetic; Genetic Identities; Identities, Genetic; Genetic Identity; Family Tree; Family Trees; Tree, Family; Trees, Family; Genealogical Tree; Genealogical Trees; Tree, Genealogical; Trees, Genealogical; Genealogic Tree; Genealogic Trees; Tree, Genealogic; Trees, Genealogic;

Related Mesh Headings: Genetic Privacy;

Tree Number: E05.393.673;

History Note: 68

Technical Notes: human & animal