Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

BD Solomon, KA Bear, A Wyllie, AA Keaton… - Journal of medical …, 2012 - jmg.bmj.com
Background Holoprosencephaly (HPE), the most common malformation of the human
forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first …

Early amniocentesis: Outcome, risks, and technical problems at≤ 12.8 weeks

FW Hanson, F Tennant, S Hune… - American Journal of …, 1992 - Elsevier
OBJECTIVE: It is the purpose of this report to evaluate our experience with amniocentesis
at≤ 12 weeks' gestation. STUDY DESIGN: Medical records of 936 patients at s12. 8 weeks' …

Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

KM Brookhyser, MH Lipson, AB Moser… - … in Affiliation With the …, 1999 - Wiley Online Library
Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are
reviewed. A case is presented with a family having one daughter affected with RCDP due to …

Consumption of food, body weight, perineal colour and levels of progesterone in the serum of cyclic female chinchillas

KM BROOKHYSER, RJ Aulerich - Journal of Endocrinology, 1980 - joe.bioscientifica.com
Venous blood of eight cyclic female chinchillas (Chinchilla laniger) was collected twice
weekly during all stages of the oestrous cycle and levels of progesterone were determined …

Third trimester resolution of cystic hygroma and pleural effusion in a fetus with Turner syndrome

KM Brookhyser, RN Slotnick… - American journal of …, 1993 - thieme-connect.com
We report a case of third trimester spontaneous resolution of a nuchal cystic hygroma with
pleural effusion in a fetus with Turner syndrome (45, X). The neonatal health of the infant …

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

NJ Clegg, MR Delgado, SJ Bale, F Lacbawan… - 2012 - acikerisim.istanbul.edu.tr
Background Holoprosencephaly (HPE), the most common malformation of the human
forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first …