D. Abeliovich

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Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I

D. Bercovich, H. Baris, I. Lerer, 2008, Familial Cancer.

ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia

B. Glaser, D. Abeliovich, I. Blech, 2011, Genetics in Medicine.

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

D. Abeliovich, W. Robinson, R. Nicholls, 1998, Journal of medical genetics.

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.

S. Christian, S. Schuffenhauer, S. Langlois, 1996, American journal of medical genetics.

The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction.

H. Gutman, I. Lerer, D. Abeliovich, 1998, American journal of human genetics.

Corrigendum: The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

F. Collins, J. Struewing, D. Abeliovich, 1996, Nature Genetics.

Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms.

I. Lerer, V. Meiner, D. Abeliovich, 1994, American journal of medical genetics.

A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: A possible role of the Alu‐polyA tail in the evolution of the deletion

L. Kadouri, I. Lerer, D. Abeliovich, 2001, Genes, chromosomes & cancer.

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non‐syndromic deafness: A novel founder mutation in Ashkenazi Jews

I. Lerer, D. Abeliovich, M. Sagi, 2001, Human mutation.

Acute Monoblastic Leukemia with t(9;11) in a Patient Receiving Chemotherapy for Ovarian Cancer: Secondary Leukemia or Fortuitous Association of Two Neoplasias?

D. Abeliovich, A. Polliack, A. Sulkes, 1991, Leukemia & lymphoma.

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC

D. Bercovich, I. Lerer, Y. Goldberg, 2010, Familial Cancer.

A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer

D. Bercovich, A. Nissan, L. Kadouri, 2007, BMC Cancer.

Neurofibromatosis type I (NFI) in Israeli families: linkage analysis as a diagnostic tool.

I. Lerer, D. Abeliovich, J. Zlotogora, 1994, American journal of medical genetics.

Complex chromosomal rearrangement in a girl with psychomotor‐retardation and a de novo inversion: inv(2)(p15;q24.2)

A. Frumkin, D. Abeliovich, A. Raas-Rothschild, 2011, American journal of medical genetics. Part A.

The H syndrome is caused by mutations in the nucleoside transporter hENT3.

I. Lerer, D. Abeliovich, O. Elpeleg, 2008, American journal of human genetics.

Genetic testing of breast and ovarian cancer patients: clinical characteristics and hormonal risk modifiers.

I. Lerer, D. Abeliovich, T. Peretz, 1999, European journal of obstetrics, gynecology, and reproductive biology.

Glutathione-S-transferase M1, T1 and P1 polymorphisms, and breast cancer risk, in BRCA1/2 mutation carriers

R. Eeles, Z. Kote-Jarai, L. Kadouri, 2008, British Journal of Cancer.

Increased severity over generations of Charcot-Marie-Tooth disease type 1A

D. Abeliovich, M. Gotkine, Z. Argov, 2008, Journal of Neurology.

Homozygosity for Waardenburg syndrome.

I. Lerer, D. Abeliovich, J. Zlotogora, 1995, American journal of human genetics.

A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?

I. Temple, I. Lerer, D. Abeliovich, 1999, American journal of human genetics.

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.

I. Lerer, D. Abeliovich, B. Horsthemke, 1994, Human molecular genetics.

Cystic fibrosis mutations in Israeli Arab patients

I. Lerer, D. Abeliovich, J. Rivlin, 1999, Human mutation.

Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.

G. Cutting, I. Lerer, S. Curristin, 1992, American journal of human genetics.

Cystic fibrosis mutations AF508 and G542X in Jewish patients

I. Lerer, G. Cutting, D. Abeliovich, 2022 .

The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?

E. Ben-Chetrit, I. Lerer, D. Abeliovich, 2000, Human mutation.

A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews.

G. Rennert, D. Bercovich, L. Kadouri, 2002, American journal of human genetics.

Localization of two X-linked mental retardation (XLMR) genes to Xp: MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22.2.

I. Lerer, V. Meiner, D. Abeliovich, 1996, American journal of medical genetics.

Mutation analysis of Jewish hunter patients in Israel

D. Abeliovich, J. Hopwood, G. Bach, 1994, Human mutation.

"Jumping translocation" in a 17-month-old child with mixed-lineage leukemia.

S. Ben-Neriah, I. Lerer, D. Abeliovich, 1991, Cancer genetics and cytogenetics.

Reversed BCR/ABL rearrangement detected by FISH in Philadelphia negative chronic myelocytic leukemia.

S. Ben-Neriah, S. Krichevsky, A. Nagler, 1995, Cancer genetics and cytogenetics.

Absence of founder BRCA1 and BRCA2 mutations in coetaneous malignant melanoma patients of Ashkenazi origin

L. Kadouri, D. Abeliovich, T. Peretz, 2008, Familial Cancer.

Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation.

D. Amikam, D. Abeliovich, T. Peretz, 2007, Clinical oncology (Royal College of Radiologists (Great Britain)).

Prader-Willi and Angelman Syndromes: Diagnostic Approach

D. Abeliovich, 2000 .

Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population

N. Risch, D. Abeliovich, D. A. Weinstein, 2004, American journal of medical genetics. Part A.

dup(10q) lacking α-satellite DNA in bone marrow cells of a patient with acute myeloid leukemia

S. Ben-Neriah, D. Abeliovich, D. Ben‐Yehuda, 1996 .

Transient Neonatal Diabetes mellitus in a Child with invdup(6)(q22q23) of Paternal Origin

I. Lerer, D. Abeliovich, J. Zlotogora, 1997, European journal of human genetics : EJHG.

Myotonic dystrophy—no evidence for preferential transmission of the mutated allele: A prenatal analysis

D. Abeliovich, M. Shohat, N. Magal, 2004, American journal of medical genetics. Part A.

Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel‐Lindau and RET genes

M. Bar, E. Friedman, I. Lerer, 1997, Clinical endocrinology.

Predominant 45,X,--Y karyotype in donor cells after allogeneic BMT: cytogenetic and molecular analysis.

S. Ben-Neriah, A. Nagler, I. Lerer, 1996, Cancer genetics and cytogenetics.

X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations

K. Woodward, T. Bird, K. Kirtland, 2000, European Journal of Human Genetics.

Machado-Joseph Disease: Correlation between the Clinical Features, the CAG Repeat Length and Homozygosity for the Mutation

N. Gadoth, I. Lerer, D. Abeliovich, 1996, European journal of human genetics : EJHG.

Lynch Syndrome in high risk Ashkenazi Jews in Israel

A. Nissan, H. Baris, I. Lerer, 2014, Familial Cancer.

Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene.

B. Zbar, V. Meiner, D. Abeliovich, 1996, The Journal of clinical endocrinology and metabolism.

Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel

C. Springer, B. Kerem, H. Blau, 1995, Human Genetics.

Cost-benefit analysis of a national screening programme for cystic fibrosis in an Israeli population.

C. Springer, B. Kerem, H. Blau, 1994, Health economics.

Enzymatic activity of glycogen metabolism in chorionic villi.

D. Abeliovich, N. Bashan, R. Potashnik, 1986, Placenta.

A complex chromosome translocation resulting in deletion 11p and associated with uveal colobomata.

R. Carmi, D. Abeliovich, Y. Yassur, 1995, Ophthalmic genetics.

3:1 meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring.

D. Abeliovich, P. Yagupsky, N. Bashan, 1982, American journal of medical genetics.

A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females.

D. Abeliovich, A. Rösler, S. Silverstein, 1996, The Journal of clinical endocrinology and metabolism.

Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.

C. Springer, A. Avital, G. Cutting, 1992, American journal of human genetics.

Malformation syndrome associated with small extra chromosome.

R. Carmi, D. Abeliovich, J. Bar-ziv, 1980, American journal of medical genetics.

Radial ray aplasia and renal anomalies in father and son: a new syndrome.

D. Abeliovich, J. Bar-ziv, S. Sofer, 1983, American journal of medical genetics.

The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

F. Collins, J. Struewing, D. Abeliovich, 1995, Nature Genetics.

The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed with Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa

M. Hildesheimer, T. Friedman, K. Avraham, 2004, Pediatric Research.

Microsatellite instability and p53 mutations in therapy-related leukemia suggest mutator phenotype.

S. Ben-Neriah, S. Krichevsky, D. Abeliovich, 1996, Blood.

Genetic screening in patients with Retinoblastoma in Israel

I. Lerer, D. Abeliovich, J. Pe’er, 2015, Familial Cancer.

The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.

I. Lerer, D. Abeliovich, T. Peretz, 1997, American journal of human genetics.

Placental mesenchymal dysplasia associated with transient neonatal diabetes mellitus and paternal UPD6.

I. Lerer, D. Abeliovich, D. Kidron, 2008, Placenta.

Wiedemann-Beckwith syndrome: further prenatal characterization of the condition.

I. Lerer, D. Abeliovich, A. Herman, 2002, American journal of medical genetics.

TRISOMY 2: CONFINED PLACENTAL MOSAICISM IN A FETUS WITH INTRAUTERINE GROWTH RETARDATION

I. Lerer, S. Yagel, D. Abeliovich, 1997 .

Mutation spectrum in Jewish cystic fibrosis patients in Israel: Implication to carrier screening

I. Lerer, D. Abeliovich, M. Sagi, 2005, American journal of medical genetics. Part A.

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.

I. Lerer, V. Meiner, D. Abeliovich, 2005, Human molecular genetics.

Familial midgut anomalies--a spectrum of defects due to the same cause?

R. Carmi, D. Abeliovich, J. Bar-ziv, 1981, American journal of medical genetics.

S. Ben-Neriah, D. Abeliovich, Y. Matzner, 1993, Cancer genetics and cytogenetics.

Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate

I. Lerer, A. Frumkin, D. Abeliovich, 2002, Prenatal diagnosis.

Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth

I. Lerer, D. Abeliovich, A. Lerner, 2006, American journal of medical genetics. Part A.

Clinical variability of partial duplication 1q: A clinical report and literature review

J. Opitz, R. Carmi, D. Abeliovich, 1987, American journal of medical genetics.

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

X. Estivill, A. Pandya, C. Petit, 2003, American journal of human genetics.

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

M. Nöthen, H. Smeets, A. V. D. van den Ouweland, 1998, American journal of human genetics.

A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers

R. Eeles, Z. Kote-Jarai, B. Glaser, 2004, British Journal of Cancer.

Carrier frequency of two BBS2 mutations in the Ashkenazi population

D. Abeliovich, N. Treff, Y. Krakinovsky, 2014, Clinical genetics.

A non‐ancestral RPGR missense mutation in families with either recessive or semi‐dominant X‐linked retinitis pigmentosa

D. Sharon, R. Roepman, T. Rosenberg, 2007, American journal of medical genetics. Part A.

Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia.

I. Lerer, D. Abeliovich, A. Zlotogorski, 2007, Journal of the American Academy of Dermatology.

CAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers

R. Eeles, Z. Kote-Jarai, S. Edwards, 2001, British Journal of Cancer.

Hunter syndrome among Jews in Israel.

D. Abeliovich, J. Zlotogora, M. Zeigler, 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Combined enzymatic and linkage analysis for heterozygote detection in Hunter syndrome: identification of an apparent case of germinal mosaicism.

D. Abeliovich, J. Zlotogora, G. Bach, 1993, American journal of medical genetics.

Cystic fibrosis mutations delta F508 and G542X in Jewish patients.

G. Cutting, I. Lerer, D. Abeliovich, 1992, Journal of medical genetics.

Molecular diagnosis of FMF: lessons from a study of 446 unrelated individuals.

E. Ben-Chetrit, D. Abeliovich, S. Urieli-Shoval, 2002, Clinical and experimental rheumatology.

The E148Q mutation in the MEFV gene: Is it a disease‐causing mutation or a sequence variant?

E. Ben-Chetrit, I. Lerer, D. Abeliovich, 2000 .

Clinical implications of fluorescence in situ hybridization analysis in 13 chronic myeloid leukemia cases: Ph-negative and variant Ph-positive.

S. Ben-Neriah, D. Abeliovich, G. Váradi, 1999, Cancer genetics and cytogenetics.

Polyglutamine repeat length in the AIB1 gene modifies breast cancer susceptibility in BRCA1 carriers

R. Eeles, Z. Kote-Jarai, D. Easton, 2004, International journal of cancer.

[Inherited breast cancer].

D. Abeliovich, T. Peretz, L. Kaduri, 1996, Harefuah.

Negative expansion of the myotonic dystrophy unstable sequence.

I. Lerer, D. Abeliovich, M. Frydman, 1993, American journal of human genetics.

The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population.

I. Lerer, D. Abeliovich, K. Buiting, 2001, American journal of human genetics.

Myotonic dystrophy: molecular analysis of Israeli patients.

I. Lerer, D. Abeliovich, I. Pashut-Lavon, 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Monosomy 21: a possible stepwise evolution of the karyotype.

R. Carmi, D. Abeliovich, J. Bar-ziv, 1979, American journal of medical genetics.

t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring.

I. Lerer, D. Abeliovich, M. Frydman, 1996, American journal of medical genetics.

The Jewish Ashkenazi founder mutations in the BRCA1/BRCA2 genes are not found at an increased frequency in Ashkenazi patients with prostate cancer.

O. Manor, I. Lerer, D. Abeliovich, 1999, American journal of human genetics.

Genetics of cerebrotendinous xanthomatosis (CTX): an autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin.

D. Abeliovich, V. Berginer, Dvorah Abeliovich, 1981, American journal of medical genetics.

Genetic screening in patients with Retinoblastoma in Israel

I. Lerer, D. Abeliovich, J. Pe’er, 2015, Familial Cancer.

The frequency of the ΔF508 mutation on cystic fibrosis chromosomes in Israeli families: correlation to CF haplotypes in Jewish communities and Arabs

I. Lerer, D. Abeliovich, J. Rivlin, 1990, Human Genetics.

Mutation spectrum in HNPCC in the Israeli population

E. Pikarski, D. Bercovich, A. Nissan, 2008, Familial Cancer.

Isochromosome 18p in a mother and her child.

D. Abeliovich, J. Zlotogora, A. Steinberg, 1993, American journal of medical genetics.

A patient with Prader–Willi syndrome and a supernumerary marker chromosome r(15)(q11.1‐13p11.1)pat and maternal heterodisomy

I. Lerer, D. Abeliovich, Z. Ben‐Neriah, 2004, American journal of medical genetics. Part A.

Duplication of distal 22q.

R. Carmi, D. Abeliovich, E. Maor, 1989, American journal of medical genetics.

Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations

Ayala Hubert, L. Kadouri, D. Abeliovich, 2007, Journal of Medical Genetics.

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

I. Lerer, D. Abeliovich, M. Sagi, 2000, American journal of medical genetics.

Fluorescence in situ hybridization analysis of the cryptic t(12;21) (p13;q22) in childhood B-lineage acute lymphoblastic leukemia.

S. B. Neriah, D. Abeliovich, G. Cividalli, 2002, Cancer genetics and cytogenetics.

BRCA1 mutations in women with ovarian cancer.

D. Abeliovich, T. Peretz, O. Paltiel, 1997, JAMA.

Klinefelter's and Takayasu's Syndromes in One Patient—A Pure Coincidence?

D. Abeliovich, M. Hirsch, E. Paran, 1983, Angiology.

Loss of Y chromosome. An age-related event or a cytogenetic marker of a malignant clone?

S. Ben-Neriah, D. Abeliovich, R. Or, 1994, Cancer genetics and cytogenetics.

Preimplantation genetic diagnosis for BRCA1/2—a novel clinical experience

M. Werner, E. Girsh, D. Abeliovich, 2009, Prenatal diagnosis.

Prevalence of myotonic dystrophy in Israeli Jewish communities: Inter‐community variation and founder premutations

Y. Shapira, A. Korczyn, I. Lerer, 2003, American journal of medical genetics. Part A.

A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): A founder mutation in the Palestinian Arabs

I. Lerer, D. Abeliovich, A. Augarten, 1999, Human mutation.

Multiple chromosomal abnormalities in fulminant anaplastic myeloma.

D. Abeliovich, I. Maslovsky, G. Lugassy, 1999, Clinical and Laboratory Haematology.

Cystic Fibrosis Heterozygote Screening in the Orthodox Community of Ashkenazi Jews: The Dor Yesharim Approach and Heterozygote Frequency

I. Lerer, D. Abeliovich, J. Ekstein, 1996, European journal of human genetics : EJHG.

The translocation 11q;22q: a novel unbalanced karyotype.

R. Carmi, D. Abeliovich, 1990, American journal of medical genetics.

The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs.

J. Opitz, R. Carmi, D. Abeliovich, 1983, American journal of medical genetics.

ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia

B. Glaser, D. Abeliovich, I. Blech, 2011, Genetics in Medicine.

Lynch Syndrome in high risk Ashkenazi Jews in Israel

A. Nissan, H. Baris, I. Lerer, 2013, Familial Cancer.

Prenatal sex diagnosis: Testosterone and fsh levels in mid‐trimester amniotic fluids

D. Abeliovich, J. Leiberman, J. Levy, 1984, Prenatal diagnosis.

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

R. Gershoni-baruch, E. Dagan, E. Friedman, 1998, American journal of human genetics.

Renal pathology in WAGR syndrome.

A. Hochberg, D. Abeliovich, J. Bar-ziv, 1996, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association.