Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate
reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide | Journal of�…

We report the cDNA cloning, chromosomal localization, and a mutation in the human
nuclear gene encoding the 18-kD (AQDQ) subunit of the mitochondrial respiratory chain�…

Caf� au lait spots (CALS) are a frequent and one of the early manifestations of
neurofibromatosis 1 (NF1). However, there are patients with isolated CALS who do not meet�…

Aplasia cutis congenita affecting the elbows, knees, hips, and gluteal area was observed in
a female newborn, product of a twin pregnancy. One of the twins was a fetus papyraceous�…

The acrocallosal syndrome (ACS) was recognized by Schinzel in 1979 as a specific entity,
characterized by the association of craniofacial anomalies, total or partial agenesis of corpus�…

OBJECTIVE: Acrocallosal syndrome (ACLS) is a rare genetically heterogeneous disorder
characterised by a variety of developmental anomalies including agenesis or hypoplasia of�…

BACKGROUND: Peripheral blood lymphocytes of patients with hematological malignancies
or solid tumors, such as renal cell carcinoma or prostate cancer, display epigenetic�…

The possibility that environmental effects are associated with chromosome aberrations and
various congenital pathologies has been discussed previously. Recent advances in the�…

Progress in the prevention and prenatal detection of birth defects has led to a relative
increase in the number of interruptions of pregnancies associated with chromosomal�…

Marfan syndrome is an autosomal dominant disorder affecting the skeletal, ocular, and
cardiovascular systems. Defects in the gene that encodes fibrillin‐1 (FBN1), the main�…