5 results match your criteria: "Jerusalem (E.L.-L.); and the University of Washington[Affiliation]"
Hiding in Plain Sight - Somatic Mutation in Human Disease.
N Engl J Med
December 2020
From the Shaare Zedek Medical Center and the Hebrew University of Jerusalem, Jerusalem (E.L.-L.); and the University of Washington, Seattle (M.-C.K.).
Essential Role of BRCA2 in Ovarian Development and Function.
N Engl J Med
September 2018
From the Medical Genetics Institute, Shaare Zedek Medical Center (A.W.-S., P.R., O.L., S.Z., R.S., E.L.-L.), the Faculty of Medicine, Hebrew University of Jerusalem, Hadassah Medical School (A.W.-S., E.L.-L., D.Z.), the Department of Developmental Biology and Cancer Research, IMRIC (Institute for Medical Research, Israel-Canada), Faculty of Medicine, Hebrew University of Jerusalem (A.D., T.S., R.K., O.G.), the Department of Genetics, Alexander Silberman Institute of Life Sciences, Hebrew University of Jerusalem (A.B.-M., M.G.), and the Division of Pediatric Endocrinology, Hadassah Hebrew University Medical Center (D.Z.), Jerusalem, and the Pediatric Endocrinology Clinic, Assaf Harofeh Medical Center, Zerifin, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv (M.R.) - all in Israel; and the Division of Medical Genetics, Department of Medicine and the Department of Genome Sciences, University of Washington, Seattle (S.G., T.W., M.-C.K.).
The causes of ovarian dysgenesis remain incompletely understood. Two sisters with XX ovarian dysgenesis carried compound heterozygous truncating mutations in the BRCA2 gene that led to reduced BRCA2 protein levels and an impaired response to DNA damage, which resulted in chromosomal breakage and the failure of RAD51 to be recruited to double-stranded DNA breaks. The sisters also had microcephaly, and one sister was in long-term remission from leukemia, which had been diagnosed when she was 5 years old.
View Article and Find Full Text PDFVesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.
Neurology
March 2017
From the Neuropediatric Unit (A.A.) and Medical Genetics (R.S., P.R., A.W.-S., S.Z., E.L.-L.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (A.A., R.S., A.W.-S., E.L.-L.), Jerusalem, Israel; Department of Chemistry and Biochemistry (K.K., S.O., S.M.P.), University of California, Santa Barbara; Faculty of Medicine (T.M., Y.H., A.O.S.), Bar Ilan University, Safed, Israel; and Departments of Medicine and Genome Sciences (S.G., M.K.L., M.-C.K., T.W.), University of Washington, Seattle.
Objective: To identify the genetic basis of a recessive congenital neurologic syndrome characterized by severe hypotonia, arthrogryposis, and respiratory failure.
Methods: Identification of the responsible gene by exome sequencing and assessment of the effect of the mutation on protein stability in transfected rat neuronal-like PC12 cells.
Results: Two brothers from a nonconsanguineous Yemeni Jewish family manifested at birth with severe hypotonia and arthrogryposis.
Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
Neurology
May 2016
From the Neuropediatric Unit (A.A.), Medical Genetics (N.R., R.J., P.R., S. Zuckerman, H.F., S. Zeligson, R.S., E.L.-L.), MRI Unit (Y.S.), and Obstetrics and Gynecology Department (E.M., R.R., O.S.), Shaare Zedek Medical Center; Hebrew University-Hadassah School of Medicine (A.A., N.R., H.F., R.S., Y.K., R.R., E.L.-L.), Jerusalem; Jerusalem Mental Health Center (Y.K.), Eitanim Psychiatric Hospital, Israel; Hereditary Research Laboratory (L.K., M.K.), Bethlehem University, Palestinian Authority; and Departments of Medicine (Medical Genetics) and Genome Sciences (M.L., T.W., M.C.K., S.G.), University of Washington, Seattle.
Objective: To identify the genetic basis of a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability.
Methods: Identification of the responsible gene by whole exome sequencing and homozygosity mapping.
Results: Ten patients from 4 consanguineous Palestinian families manifested in utero with hyperechogenic brain foci, microcephaly, and intrauterine growth retardation.
Copy number variations in cryptogenic cerebral palsy.
Neurology
April 2015
From the Medical Genetics Institute (R.S., S.Z., S.P., E.L.-L.) and Neuropediatric Unit (H.B.-P., A.A., V.G.-T.), Shaare Zedek Medical Center, Jerusalem; Pediatric Neurology Unit (A.F.-V., N.S.-S.), Dana Children's Hospital, Tel Aviv; Jerusalem Child Development Center (D.S.), Clalit, Jerusalem; Metabolic-Neurogenetic Clinic (D.L., L.B.), Wolfson Medical Center, Holon; and Biostatistical Consulting (L.D.), BioStats, Israel.
Objective: To determine the prevalence and characteristics of copy number variations (CNVs) in children with cerebral palsy (CP) of unknown etiology, comprising approximately 20% of the CP population.
Methods: Fifty-two participants (age 10.5 ± 7.