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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
TLDR
The GTP-binding protein RAB27A appears to be involved in the control of the immune system, as all patients with RAB 27A mutations, but none with the MYO5A mutation, developed HS. Expand
Impact of Maternal Age on Obstetric Outcome
TLDR
It is concluded that increasing maternal age is independently associated with specific adverse pregnancy outcomes and is a continuum rather than a threshold effect. Expand
First-trimester or second-trimester screening, or both, for Down's syndrome.
TLDR
First-trimester combined screening at 11 weeks of gestation is better than second- Trimester quadruple screening but at 13 weeks has results similar to second- trimester quadruples screening. Expand
Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum.
TLDR
The data demonstrate the continued maternal circulation of fetalCD34+ or CD34+CD38+ cells from a prior pregnancy, which may represent a human analogue of the microchimerism described in the mouse and may have significance in development of tolerance of the fetus. Expand
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
TLDR
It is suggested that the interactions of multiple gene products and/or environmental elements may determine the final phenotypic outcome for a given individual and that variations among these factors may cause the wide variability in the clinical features seen in HPE. Expand
Fetology: Diagnosis and Management of the Fetal Patient
TLDR
The Fetal Chromosome Abnormalities Index is presented as a guide for the management of Fetal Conditions Diagnosed by Sonography and Prenatal Diagnostic Procedures. Expand
Maternal Thyroid Hypofunction and Pregnancy Outcome
TLDR
Maternal thyroid hypofunction is not associated with a consistent pattern of adverse outcomes, and there was an increased risk for preterm premature rupture of membranes when both antibodies were positive in either trimester. Expand
Isolation of fetal DNA from nucleated erythrocytes in maternal blood.
TLDR
It is demonstrated that it is possible to isolate fetal gene sequences from cells in maternal blood by using monoclonal antibody against the transferrin receptor to identify nucleated erythrocytes in the peripheral blood of pregnant women. Expand
Microchimerism of presumed fetal origin in thyroid specimens from women: a case-control study
TLDR
The findings suggest a relation between fetal cell microchimerism and thyroid disease in women and fetal stem cells might be capable of differentiation into mature thyroid follicles in their mothers with favourable environmental and developmental factors. Expand
Circulating fetal DNA: its origin and diagnostic potential-a review.
TLDR
It is shown that abnormal feto-maternal trafficking of nucleic acids is associated with fetal and placental pathology, and that these observations may lead to novel non-invasive diagnostic and screening tests. Expand
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