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

Clinical genetics, 2016-12, Vol.90 (6), p.540-544

2016

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A Single Nucleotide Polymorphism in the RAD51 Gene Modifies Cancer Risk in BRCA2 but Not BRCA1 Carriers

Proceedings of the National Academy of Sciences - PNAS, 2001-03, Vol.98 (6), p.3232-3236

2001

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Ovarian reserve and PGD treatment outcome in women with myotonic dystrophy

Reproductive biomedicine online, 2014-07, Vol.29 (1), p.94-101

2014

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

Journal of assisted reproduction and genetics, 2013-12, Vol.30 (12), p.1595-1603

2013

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

Human reproduction (Oxford), 2006-08, Vol.21 (8), p.2047-2051

2006

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P2 Instant familial haplotyping in conjunction with embryo analysis in preimplantation genetic diagnosis (PGD) using DNA microarrays

Reproductive biomedicine online, 2012-05, Vol.24, p.S45-S45

2012

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P-2 Overcoming limitations of single cell analysis in duplicated and GC-rich genomic regions using multiple displacement amplification for preimplantation genetic diagnosis (PGD)

Reproductive biomedicine online, 2013-05, Vol.26, p.S27-S28

2013

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O-22 Embryo biopsy for PGD has no significant impact on neonatal outcome

Reproductive biomedicine online, 2013-05, Vol.26, p.S22-S22

2013

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O1 Preimplantation Genetic Diagnosis (PGD) for germline mosaicism

Reproductive biomedicine online, 2010, Vol.20, p.S15-S15

2010

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Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates

The Lancet (British edition), 2000-08, Vol.356 (9230), p.652-653

2000

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Successful polar body-based preimplantation genetic diagnosis for achondroplasia

Reproductive biomedicine online, 2008, Vol.16 (2), p.276-282

2008

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

Prenatal diagnosis, 2007-04, Vol.27 (4), p.317-321

2007

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50. ASSESSMENT OF MICROBIAL CONTAMINATION TO ELIMINATE ARTIFACTS IN SEQUENCING-BASED PGT-A/PGT-SR

Reproductive biomedicine online, 2019-08, Vol.39, p.e57-e57

2019

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O8 Preimplantation genetic diagnosis (PGD) for monogenic disorders. When blastomere analysis may be impossible

Reproductive biomedicine online, 2010, Vol.20, p.S17-S17

2010

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Polar Body-Based Preimplantation Genetic Diagnosis for N-Acetylglutamate Synthase Deficiency

Fetal diagnosis and therapy, 2008-10, Vol.24 (3), p.170-176

2008

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

Cellular and molecular life sciences : CMLS, 1998-09, Vol.54 (9), p.910-919

1998

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High frequency of factor V Leiden in a population of Israeli Arabs

Thrombosis and haemostasis, 1999-12, Vol.82 (6), p.1768

1999

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

Pediatric research, 2001-10, Vol.50 (4), p.532-537

2001

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Gilbert Syndrome and Glucose-6-Phosphate Dehydrogenase Deficiency: A Dose-Dependent Genetic Interaction Crucial to Neonatal Hyperbilirubinemia

Proceedings of the National Academy of Sciences - PNAS, 1997-10, Vol.94 (22), p.12128-12132

1997

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

Human reproduction (Oxford), 2010-10, Vol.25 (10), p.2629-2636

2010

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Isolation and characterization of the full-length 3' untranslated region of the human von Hippel-Lindau tumor suppressor gene

Human genetics, 1996-12, Vol.98 (6), p.666-671

1996

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Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population

Human molecular genetics, 2005-02, Vol.14 (4), p.555-563

2005

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

Gene, 2009-10, Vol.446 (2), p.81-89

2009

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

Journal of clinical oncology, 2011-05, Vol.29 (15_suppl), p.1513-1513

2011

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P-089: RAC1 polymorphisms and thiopurine efficacy in children with inflammatory bowel disease

Journal of Crohn's and colitis, 2014-09, Vol.8, p.S428-S428

2014

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

A Single Nucleotide Polymorphism in the RAD51 Gene Modifies Cancer Risk in BRCA2 but Not BRCA1 Carriers

Ovarian reserve and PGD treatment outcome in women with myotonic dystrophy

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

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

P2 Instant familial haplotyping in conjunction with embryo analysis in preimplantation genetic diagnosis (PGD) using DNA microarrays

P-2 Overcoming limitations of single cell analysis in duplicated and GC-rich genomic regions using multiple displacement amplification for preimplantation genetic diagnosis (PGD)

O-22 Embryo biopsy for PGD has no significant impact on neonatal outcome

O1 Preimplantation Genetic Diagnosis (PGD) for germline mosaicism

Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates

Successful polar body-based preimplantation genetic diagnosis for achondroplasia

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

50. ASSESSMENT OF MICROBIAL CONTAMINATION TO ELIMINATE ARTIFACTS IN SEQUENCING-BASED PGT-A/PGT-SR

O8 Preimplantation genetic diagnosis (PGD) for monogenic disorders. When blastomere analysis may be impossible

Polar Body-Based Preimplantation Genetic Diagnosis for N-Acetylglutamate Synthase Deficiency

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

High frequency of factor V Leiden in a population of Israeli Arabs

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

Gilbert Syndrome and Glucose-6-Phosphate Dehydrogenase Deficiency: A Dose-Dependent Genetic Interaction Crucial to Neonatal Hyperbilirubinemia

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

Isolation and characterization of the full-length 3' untranslated region of the human von Hippel-Lindau tumor suppressor gene

Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population

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

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

P-089: RAC1 polymorphisms and thiopurine efficacy in children with inflammatory bowel disease

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