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List of works by Gheona Altarescu

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

A safety trial of high dose glyceryl triacetate for Canavan disease ⬇️

scientific article published on March 15, 2011

Acceptable applications of preimplantation genetic diagnosis (PGD) among Israeli PGD users

scientific article published on 26 July 2017

Achievement of therapeutic goals with low-dose imiglucerase in Gaucher disease: a single-center experience

scientific article

Amyloidosis and gastric bleeding in a patient with Gaucher disease

scientific article published on 01 September 2003

An association study of inflammatory cytokine gene polymorphisms in Fabry disease

scientific article published on 01 December 2006

An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke

scientific article published on 04 August 2014

Anesthetic management for oocyte retrieval: An exploratory analysis comparing outcome in in vitro fertilization cycles with and without pre-implantation genetic diagnosis

scientific article published on October 2013

Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease

scientific article published on 10 September 2013

Arterial wall properties and Womersley flow in Fabry disease

scientific article

Association study of protease activated receptor 1 gene polymorphisms and adverse pregnancy outcomes: results of a pilot study in Israel

scientific article published on 01 November 2007

Booster-effect with velaglucerase alfa in patients with Gaucher disease switched from long-term imiglucerase therapy: Early Access Program results from Jerusalem ⬇️

scientific article published on 01 November 2011

Children with type 1 Gaucher disease: Changing profiles in the 21st century

scientific article

Coexistence of Fabry disease and Crohn's disease: a case report

scientific article published on 01 January 2005

Cognitive testing in Fabry disease: pilot using a brief computerized assessment tool.

scientific article

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

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

scientific article

Disease severity in sibling pairs with type 1 Gaucher disease

scientific article published on 05 January 2010

Does elevated human chorionic gonadotropin alone trigger spontaneous ovarian hyperstimulation syndrome?

scientific article published on 31 December 2007

Effect of genetic modifiers on cerebral lesions in Fabry disease

scientific article published in June 2005

Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease

scientific article published on 25 April 2010

Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement

scientific article published in February 2002

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease

scientific article

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis

scientific article published on 16 October 2015

Evolving features in type 3 Gaucher disease on long-term enzyme replacement therapy ⬇️

scientific article published on October 22, 2012

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

scientific article

Fabry disease in an oligosymptomatic male

scientific article published on 01 March 2011

Female sex bias in human embryonic stem cell lines.

scientific article published on 24 June 2011

Fluorescent flow cytometric assay: a new diagnostic tool for measuring beta-glucocerebrosidase activity in Gaucher disease

scientific article published in January 2003

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

scientific article

Genetic polymorphisms of vitamin D receptor (VDR) in Fabry disease

scientific article

Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy

scientific article published on 19 November 2018

Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa

scientific article published on 31 July 2018

Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male

scientific article published on 12 July 2018

Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells.

scientific article published on 17 October 2016

Maternal and neonatal irisin precursor gene FNDC5 polymorphism is associated with preterm birth

scientific article published on 30 January 2018

Maternal and neonatal leptin and leptin receptor polymorphisms associated with preterm birth

scientific article published on 5 July 2016

Maternal-fetal vitamin D receptor polymorphisms significantly associated with preterm birth

scientific article published on 13 June 2017

Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density

scientific article published on 04 March 2008

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

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

scientific article published in March 2002

Neonatal outcome after preimplantation genetic diagnosis

scientific article published on 23 July 2014

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

scientific article

Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation

scientific article published in Scientific Reports

Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply

scientific article

Off the street phasing (OTSP): no hassle haplotype phasing for molecular PGD applications

scientific article published on 08 January 2019

Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement.

scientific article

Osteopontin polymorphic susceptibility factor for Parkinson's disease among patients with Gaucher disease ⬇️

scientific article published on April 5, 2011

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

scientific article published on 16 August 2010

PGD for germline mosaicism.

scientific article

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

scientific article

Paraoxonase (PON1) gene polymorphisms in Fabry disease: correlation with renal disease

scientific article published on 16 July 2010

Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience

scientific article published on 18 March 2010

Phenotype in patients with Gaucher disease and Parkinson disease ⬇️

scientific article published on December 20, 2012

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease ⬇️

scientific article published on October 22, 2012

Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease

scientific article

Platelet counts and interleukin-6 (IL-6) promoter polymorphism in patients with Gaucher disease

scientific article

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

scientific article

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

scientific article published in January 2011

Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease

scientific article published on 21 May 2018

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

scientific article

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

scientific article published on 19 March 2013

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

scientific article published on 17 July 2015

Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial

scientific article published on 01 September 2018

Preventing Lysosomal Storage Dysorders by Preimplantation Genetic Diagnosis

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

scientific article published on 27 June 2011

Prevention is the Best Therapy: The Geneticist's Approach

scientific article published in June 2016

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

scientific article published on 26 December 2012

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

scientific article

Protease-activated-receptor 1 polymorphisms correlate with risk for unexplained recurrent pregnancy loss: a pilot study querying an association beyond coagulation

scientific article published on 25 November 2014

Proteinase-activated receptor (PAR1) polymorphic variant correlates with thrombocytopenia in Gaucher disease

scientific article

Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study

scientific article

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

scientific article

Relationship between CYP2A6 genetic polymorphism, as a marker of nicotine metabolism, and ulcerative colitis

scientific article published on February 1, 2011

Screening for Gaucher disease: new challenges

scientific article published in November 2014

Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease

scientific article published on 01 April 2006

Simultaneous preimplantation genetic diagnosis for Tay–Sachs and Gaucher disease

scientific article published on 01 July 2007

Survey of hematological aspects of Gaucher disease

scientific article

TNF-alpha levels and TNF-alpha gene polymorphism in type I Gaucher disease

scientific article published on 01 July 2005

The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users

scientific article published on 27 May 2020

The effect of repeated biopsy on pre-implantation genetic testing for monogenic diseases (PGT-M) treatment outcome

scientific article published on 06 November 2018

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

scientific article

Vitamin D Receptor (VDR) polymorphic variants in patients with cancer and Gaucher disease ⬇️

scientific article published on January 15, 2011

Vitamin D receptor (VDR) polymorphisms in the cardiac variant of Gaucher disease

scientific article published on 26 September 2009

Vitamin D receptor polymorphism FokI is associated with spontaneous idiopathic preterm birth in an Israeli population

scientific article

White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions

scientific article published in December 2003

X-inactivation in Fabry disease ⬇️

scientific article published on June 16, 2012

Zimran A, Brill-Almon E, Chertkoff R, et al. Pivotal trial with plant cell?expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood. 2011;118(22):.

scientific article published in May 2012

α-Synuclein rs356219 polymorphisms in patients with Gaucher disease and Parkinson disease

scientific article published on 8 August 2014

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