Lista de obras - Ephrat Levy-Lahad - Dominio Público Uruguay

(TA)n UDP-glucuronosyltransferase 1A1 promoter polymorphism in Nigerian neonates

artículo científico publicado en 2008

(TA)n UGT 1A1 Promoter Polymorphism: A Crucial Factor in the Pathophysiology of Jaundice in G-6-PD Deficient Neonates

article published in 2007

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)

article

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

artículo científico publicado en 2015

A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia

artículo científico publicado en 2012

A role for TENM1 mutations in congenital general anosmia.

artículo científico publicado en 2016

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families

artículo científico publicado en 2003

A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers

artículo científico publicado en 2001

Abstract P3-08-06: Screening, management, cancer diagnoses, and outcomes of women with germline BRCA mutations in Israel: The Noga Clinic experience

scholarly article by P Mor et al published 14 February 2017 in Cancer Research

Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease

artículo científico publicado en 2007

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

artículo científico

Amyloid (Abeta) deposition in chromosome 1-linked Alzheimer's disease: the Volga German families.

artículo científico publicado en 1997

Attitudes of couples identified through screening as carriers of Gaucher disease type 1.

artículo científico publicado en 2008

BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening

artículo científico publicado en 2012

BRCA mutation carriers do not have compromised ovarian reserve

artículo científico publicado en 2014

BRCA1 germline mutations in women with uterine serous papillary carcinoma

artículo científico publicado en 2000

Brain calcifications and PCDH12 variants

artículo científico

CANCER: Enhanced: A Risky Business--Assessing Breast Cancer Risk

artículo científico publicado en 2003

Cancer risks among BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2007

Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases

artículo científico publicado en 2007

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

artículo científico publicado en 2018

Collaborative genomics for human health and cooperation in the Mediterranean region

article

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress

artículo científico publicado en 2015

Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel

scholarly article by Sari Lieberman et al published 10 August 2011 in American Journal of Medical Genetics

Copy number variations in cryptogenic cerebral palsy

artículo científico publicado en 2015

Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry

artículo científico publicado en 2017

Developmental neuropsychological assessment of 4- to 5-year-old children born following Preimplantation Genetic Diagnosis (PGD): A pilot study

artículo científico publicado en 2015

Differing pathogenesis of perinatal bilirubinemia in glucose-6-phosphate dehydrogenase-deficient versus-normal neonates.

artículo científico publicado en 2001

Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes

artículo científico publicado en 1998

Egr-1 upregulates the Alzheimer's disease presenilin-2 gene in neuronal cells

artículo científico publicado en 2003

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis

artículo científico publicado en 2015

Ethnic ancestry and increased paternal age are risk factors for breast cancer before the age of 40 years.

artículo científico publicado en 2007

Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?

artículo científico publicado en 2016

FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cells

artículo científico publicado en 2014

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population

artículo científico publicado en 2006

Familial haplotyping and embryo analysis for Preimplantation genetic diagnosis (PGD) using DNA microarrays: a proof of principle study

scientific article published on 06 July 2013

Fanconi anemia and breast cancer susceptibility meet again

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance

artículo científico publicado en 2017

Female sex bias in human embryonic stem cell lines.

artículo científico publicado en 2011

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: a change of concept required

artículo científico publicado en 2010

Functional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi origin

artículo científico publicado en 2010

Gaucher's disease: genetic counselling and population screening.

artículo científico publicado en 1997

Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood

artículo científico publicado en 2011

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

artículo científico publicado en 2017

Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: A dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia ⬇️

artículo científico publicado el 28 de octubre de 1997

Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates

artículo científico publicado en 2000

Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism

artículo científico publicado en 2002

High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up

artículo científico publicado en 2013

Human Embryo Editing: Opportunities and Importance of Transnational Cooperation

artículo científico publicado en 2017

Identification of BRCA1/BRCA2 carriers by screening in the healthy population and its implications

Incidence of thrombophilia in patients with Gaucher disease

scientific article published on 01 December 2000

Is uterine serous papillary carcinoma a BRCA1-related disease? Case report and review of the literature.

artículo científico publicado en 1999

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

artículo científico publicado en 2016

Medical genetics in Israel's diverse population.

artículo científico publicado en 2017

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.

artículo científico publicado en 2015

Molecular study ofWISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

Monogenic determinants of familial Alzheimer's disease: presenilin-2 mutations.

artículo científico publicado en 1998

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

artículo científico publicado en 2014

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

artículo científico publicado en 2013

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

artículo científico publicado en 2010

Neonatal Hyperbilirubinemia in Glucose-6-Phosphate Dehydrogenase-deficient Heterozygotes

artículo científico publicado en 1999

Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.

artículo científico publicado en 2001

Neonatal outcome after preimplantation genetic diagnosis

artículo científico publicado en 2014

New ISSCR guidelines underscore major principles for responsible translational stem cell research

artículo científico publicado en 2008

Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies

artículo científico publicado en 2009

PGD for fragile X syndrome: ovarian function is the main determinant of success

artículo científico publicado en 2010

PGD for germline mosaicism.

artículo científico publicado en 2012

PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis.

artículo científico publicado en 2008

Parkin differently regulates presenilin-1 and presenilin-2 functions by direct control of their promoter transcription

artículo científico publicado en 2013

Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency

artículo científico publicado en 2008

Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

artículo científico publicado en 2016

Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience.

artículo científico publicado en 2016

Population-based BRCA1/BRCA2 screening in Ashkenazi Jews: A call for evidence

article

Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award

artículo científico publicado en 2014

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.

artículo científico publicado en 2014

Precision Medicine Meets Public Health: Population Screening for BRCA1 and BRCA2

article

Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants

artículo científico publicado en 2019

Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis

artículo científico publicado en 2010

Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model

Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy

scientific article published on July 2009

Preimplantation genetic diagnosis (PGD)--prevention of the birth of children affected with endocrine diseases

artículo científico publicado en 2011

Preimplantation genetic diagnosis for fetal neonatal alloimmune thrombocytopenia due to antihuman platelet antigen maternal antibodies

artículo científico publicado en 2012

Preimplantation genetic diagnosis in genomic regions with duplications and pseudogenes: long-range PCR in the single-cell assay

artículo científico publicado en 2013

Preimplantation genetic risk reduction: a new dilemma in the era of chromosomal microarrays and exome sequencing

artículo científico publicado en 2015

Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21.

artículo científico publicado en 2014

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

artículo científico publicado en 1998

Preventing Lysosomal Storage Dysorders by Preimplantation Genetic Diagnosis

Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.

artículo científico publicado en 2011

Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.

artículo científico publicado en 2012

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

artículo científico publicado en 2015

Proposed Shift in Screening for Breast Cancer—Reply

artículo científico publicado en 2015

Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?

artículo científico publicado en 2009

Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations

artículo científico publicado en 2009

Recent advances in the genetics of Alzheimer's disease.

artículo científico publicado en 1998

Response to ACMG guideline: Carrier screening in individuals of Ashkenazi Jewish decent

article

Simultaneous preimplantation genetic diagnosis for Tay–Sachs and Gaucher disease

artículo científico publicado en 2007

Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1.

artículo científico publicado en 2006

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

artículo científico publicado en 2009

Substrate profiling of human vaccinia-related kinases identifies coilin, a Cajal body nuclear protein, as a phosphorylation target with neurological implications

artículo científico publicado en 2011

TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair

artículo científico publicado en 2015

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

artículo científico publicado en 2011

Testicular differentiation factor SF-1 is required for human spleen development

artículo científico publicado en 2014

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.

artículo científico publicado en 2015

Transcriptional regulation of the murine Presenilin-2 gene reveals similarities and differences to its human orthologue

artículo científico publicado en 2009

Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells

artículo científico publicado en 2015

VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle

artículo científico publicado en 2015

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome

artículo científico publicado en 2017

Why should primary care physicians know about breast cancer genetics?

artículo científico publicado en 2001

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription

artículo científico publicado en 2011

p53-dependent control of transactivation of the Pen2 promoter by presenilins

artículo científico publicado en 2009

Lista de obras de Ephrat Levy-Lahad

(TA)n UDP-glucuronosyltransferase 1A1 promoter polymorphism in Nigerian neonates

(TA)n UGT 1A1 Promoter Polymorphism: A Crucial Factor in the Pathophysiology of Jaundice in G-6-PD Deficient Neonates

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia

A role for TENM1 mutations in congenital general anosmia.

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families

A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers

Abstract P3-08-06: Screening, management, cancer diagnoses, and outcomes of women with germline BRCA mutations in Israel: The Noga Clinic experience

Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

Amyloid (Abeta) deposition in chromosome 1-linked Alzheimer's disease: the Volga German families.

Attitudes of couples identified through screening as carriers of Gaucher disease type 1.

BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening

BRCA mutation carriers do not have compromised ovarian reserve

BRCA1 germline mutations in women with uterine serous papillary carcinoma

Brain calcifications and PCDH12 variants

CANCER: Enhanced: A Risky Business--Assessing Breast Cancer Risk

Cancer risks among BRCA1 and BRCA2 mutation carriers

Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

Collaborative genomics for human health and cooperation in the Mediterranean region

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress

Conflicts regarding genetic counseling for fragile X syndrome screening: A survey of clinical geneticists and genetic counselors in Israel

Copy number variations in cryptogenic cerebral palsy

Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry

Developmental neuropsychological assessment of 4- to 5-year-old children born following Preimplantation Genetic Diagnosis (PGD): A pilot study

Differing pathogenesis of perinatal bilirubinemia in glucose-6-phosphate dehydrogenase-deficient versus-normal neonates.

Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes

Egr-1 upregulates the Alzheimer's disease presenilin-2 gene in neuronal cells

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis

Ethnic ancestry and increased paternal age are risk factors for breast cancer before the age of 40 years.

Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?

FMR1 epigenetic silencing commonly occurs in undifferentiated fragile X-affected embryonic stem cells

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population

Familial haplotyping and embryo analysis for Preimplantation genetic diagnosis (PGD) using DNA microarrays: a proof of principle study

Fanconi anemia and breast cancer susceptibility meet again

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance

Female sex bias in human embryonic stem cell lines.

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: a change of concept required

Functional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi origin

Gaucher's disease: genetic counselling and population screening.

Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: A dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia ⬇️

Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates

Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism

High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up

Human Embryo Editing: Opportunities and Importance of Transnational Cooperation

Identification of BRCA1/BRCA2 carriers by screening in the healthy population and its implications

Incidence of thrombophilia in patients with Gaucher disease

Is uterine serous papillary carcinoma a BRCA1-related disease? Case report and review of the literature.

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

Medical genetics in Israel's diverse population.

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.

Molecular study ofWISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

Monogenic determinants of familial Alzheimer's disease: presenilin-2 mutations.

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

Neonatal Hyperbilirubinemia in Glucose-6-Phosphate Dehydrogenase-deficient Heterozygotes

Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.

Neonatal outcome after preimplantation genetic diagnosis

New ISSCR guidelines underscore major principles for responsible translational stem cell research

Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies

PGD for fragile X syndrome: ovarian function is the main determinant of success

PGD for germline mosaicism.

PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis.

Parkin differently regulates presenilin-1 and presenilin-2 functions by direct control of their promoter transcription

Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency

Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience.

Population-based BRCA1/BRCA2 screening in Ashkenazi Jews: A call for evidence

Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award

Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.

Precision Medicine Meets Public Health: Population Screening for BRCA1 and BRCA2

Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants