List of works - Eyal Reinstein

A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin

scientific article

A patient with abdominal pain, vomiting and splenomegaly

scientific article published on 01 June 2006

Antiphospholipid syndrome and cancer

scientific article published on April 2007

Arterial tortuosity in patients withFilamin A- associated vascular aneurysms

scientific article published on 14 August 2014

Atrophic Skin Patches With Abnormal Elastic Fibers as a Presenting Sign of the MASS Phenotype Associated With Mutation in the Fibrillin 1 Gene

article

Autoimmunity and mast cell-related diseases

scientific article published on March 2008

Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues

scientific article

Challenges of using next generation sequencing in newborn screening

scientific article published on 02 November 2015

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

scientific article published on 7 September 2016

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study ⬇️

scientific article published on August 29, 2012

Darier's disease

scientific article published on 01 August 2006

Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants

scientific article published on 18 April 2020

Early‐onset osteoarthritis in Ehlers–Danlos syndrome type VIII ⬇️

scientific article published on March 14, 2012

Echocardiographic findings in patients with spontaneous CSF leak

scientific article published on 25 July 2014

Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

scientific article published on 27 June 2012

Ehlers-Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree ⬇️

scientific article published on March 15, 2011

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

scientific article published on 6 June 2016

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

scientific article published on 13 May 2016

Familial Occurrence of Atrioventricular Nodal Reentrant Tachycardia

scientific article published on February 2017

Filamin Amutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia

scientific article published on 27 June 2012

Immunologic aspects of protein degradation by the ubiquitin-proteasome system.

scientific article published in July 2004

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

scientific article

More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia

scientific article published on 16 August 2013

Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.

scientific article

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia

scientific article published on 16 March 2015

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

scientific article published on 01 November 2018

Narrative review: protein degradation and human diseases: the ubiquitin connection

scientific article published on November 2006

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

scientific article published on 27 September 2016

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.

scientific article published on 25 March 2017

Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder

scientific article published on 30 April 2013

Schizophrenia and Nail Patella Syndrome: The Dopamine Connection

scientific article published on 01 August 2018

Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome

scientific article published on 23 March 2016

The 2017 international classification of the Ehlers-Danlos syndromes

scientific article published on March 2017

The association between maternal serum first trimester free βhCG, second trimester intact hCG levels and foetal growth restriction and preeclampsia

scientific article published on 31 January 2018

The yield of chromosomal microarray analysis among pregnancies terminated due to fetal malformations

scientific article published on 23 January 2020

Ubiquitin wins Nobel

scientific article published in April 2006

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A ⬇️

scientific article published on October 3, 2012

Visceroptosis of the bowel in the hypermobility type of Ehlers–Danlos syndrome: Presentation of a rare manifestation and review of the literature ⬇️

scientific article published on July 7, 2012

[The ubiquitin system for intracellular protein degradation--involvement in human pathologies and therapeutic implications]

scientific article published on 01 August 2004

[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].

scientific article published in April 2017

List of works by Eyal Reinstein

A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin

A patient with abdominal pain, vomiting and splenomegaly

Antiphospholipid syndrome and cancer

Arterial tortuosity in patients withFilamin A- associated vascular aneurysms

Atrophic Skin Patches With Abnormal Elastic Fibers as a Presenting Sign of the MASS Phenotype Associated With Mutation in the Fibrillin 1 Gene

Autoimmunity and mast cell-related diseases

Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues

Challenges of using next generation sequencing in newborn screening

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study ⬇️

Darier's disease

Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants

Early‐onset osteoarthritis in Ehlers–Danlos syndrome type VIII ⬇️

Echocardiographic findings in patients with spontaneous CSF leak

Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

Ehlers-Danlos type VIII, periodontitis-type: Further delineation of the syndrome in a four-generation pedigree ⬇️

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

Familial Occurrence of Atrioventricular Nodal Reentrant Tachycardia

Filamin Amutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia

Immunologic aspects of protein degradation by the ubiquitin-proteasome system.

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia

Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Narrative review: protein degradation and human diseases: the ubiquitin connection

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Prenatal course of metaphyseal anadysplasia associated with homozygous mutation in MMP9 identified by exome sequencing.

Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder

Schizophrenia and Nail Patella Syndrome: The Dopamine Connection

Terminal microdeletions of 13q34 chromosome region in patients with intellectual disability: Delineation of an emerging new microdeletion syndrome

The 2017 international classification of the Ehlers-Danlos syndromes

The association between maternal serum first trimester free βhCG, second trimester intact hCG levels and foetal growth restriction and preeclampsia

The yield of chromosomal microarray analysis among pregnancies terminated due to fetal malformations

Ubiquitin wins Nobel

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A ⬇️

Visceroptosis of the bowel in the hypermobility type of Ehlers–Danlos syndrome: Presentation of a rare manifestation and review of the literature ⬇️

[The ubiquitin system for intracellular protein degradation--involvement in human pathologies and therapeutic implications]

[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].