J. Zlotogora

发表

Department of Community Genetics Public Health Services Ministry of Health Israel MENDELIAN DISORDERS IN THE NON JEWISH POPULATION OF ISRAEL

J. Zlotogora, 2015 .

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

L. Cavalli-Sforza, E. Dermitzakis, S. Antonarakis, 2011, Genetics in Medicine.

Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy

V. Gieselmann, J. Zlotogora, B. Hess, 1996, Human mutation.

Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity.

J. Zlotogora, 1997, American journal of medical genetics.

Familial hydrocephalus of prenatal onset.

J. Zlotogora, M. Sagi, T. Cohen, 1994, American journal of medical genetics.

Genetic disorders among Palestinian Arabs. 2. Hydrocephalus and neural tube defects.

J. Zlotogora, 1997, American journal of medical genetics.

Late infantile metachromatic leukodystrophy in Israel.

K. von Figura, J. Zlotogora, V. Gieselman, 1994, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study.

S. Almashanu, N. Amariglio, G. Rechavi, 2013, The Israel Medical Association journal : IMAJ.

Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.

V. Sheffield, E. Stone, J. Zlotogora, 1997, Human molecular genetics.

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

R. Spritz, D. Hu, J. Helms, 2000, Nature Genetics.

Is there a relation between Klippel-Feil sequence and Kallmann syndrome?

J. Zlotogora, 1995, American journal of medical genetics.

Genetic homogeneity of autoimmune polyglandular disease type I.

L. Peltonen, G. Romeo, J. Perheentupa, 1996, American journal of human genetics.

Prevention of lysosomal storage disorders in Israel.

J. Zlotogora, G. Bach, M. Zeigler, 2007, Molecular genetics and metabolism.

Prenatal testing for genetic disorders among Arabs

J. Zlotogora, N. Reshef, Nurit Reshef, 1998, Prenatal diagnosis.

Mutations in von Recklinghausen neurofibromatosis: an hypothesis.

J. Zlotogora, 1993, American journal of medical genetics.

Selection in favor of lysosomal storage disorders?

J. Zlotogora, M. Zeigler, G. Bach, 1988, American journal of human genetics.

Molecular basis of autosomal recessive diseases among the Palestinian Arabs.

J. Zlotogora, 2002, American journal of medical genetics.

The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel

J. Zlotogora, 2010, Human Genetics.

Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans

J. Zlotogora, T. Ben‐Yosef, M. Nevet, 2010, Journal of Medical Genetics.

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.

Medical genetics in Israel's diverse population

J. Zlotogora, E. Levy-Lahad, A. Shalata, 2017, The Lancet.

Krabbe disease locus mapped to chromosome 14 by genetic linkage.

J. Zlotogora, R. Knowlton, D. Wenger, 1990, American journal of human genetics.

Hereditary disorders among Iranian Jews.

J. Zlotogora, 1995, American journal of medical genetics.

Hunter syndrome among Ashkenazi Jews in Israel; evidence for prenatal selection favoring the Hunter allele

J. Zlotogora, M. Zeigler, G. Bach, 2004, Human Genetics.

Israel-France Binational Symposium on ‘Hereditary Diseases, Molecular Diagnosis and Gene Therapy’

A. Brice, S. Lyonnet, J. Zlotogora, 1995, European journal of human genetics : EJHG.

Penetrance and expressivity in the molecular age

Joël Zlotogora, J. Zlotogora, 2003, Genetics in Medicine.

Homozygosity for Waardenburg syndrome.

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

Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C

H. Mandel, R. Carmi, V. Meiner, 2001, Genetics in Medicine.

Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

D. Bercovich, Y. Anikster, R. Loewenthal, 2008, Journal of Human Genetics.

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel

J. Zlotogora, M. Shohat, L. Basel‐Vanagaite, 2007, European Journal of Human Genetics.

Molecular basis of mendelian disorders among Jews.

A. Munnich, J. Zlotogora, G. Bach, 2000, Molecular genetics and metabolism.

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

S. Godfrey, A. Avital, E. Ben-Simon, 1989, American journal of human genetics.

Surveillance of neural tube defects in Israel: the effect of the recommendation for periconceptional folic acid.

Y. Amitai, A. Leventhal, J. Zlotogora, 2006, The Israel Medical Association journal : IMAJ.

Mucolipidosis type IV: clinical spectrum and natural history.

J. Zlotogora, G. Bach, N. Amir, 1987, Pediatrics.

International perspectives on the implementation of reproductive carrier screening

W. Grody, F. Alkuraya, N. Laing, 2019, Prenatal diagnosis.

High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel

M. Khayat, J. Zlotogora, S. Shalev, 2010, American journal of medical genetics. Part A.

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.

Autosomal recessive diseases among Palestinian Arabs.

J. Zlotogora, 1997, Journal of medical genetics.

Selection for carriers of recessive diseases: a common phenomenon?

J. Zlotogora, 1998, American journal of medical genetics.

Screening for genetic disorders among Jews: how should the Tay-Sachs screening program be continued?

A. Leventhal, J. Zlotogora, 2000, The Israel Medical Association journal : IMAJ.

Multiple mutations in a specific gene in a small geographic area: a common phenomenon?

V. Gieselmann, J. Zlotogora, G. Bach, 1996, American journal of human genetics.

On the inheritance of primary spontaneous pneumothorax.

I. Lossos, J. Zlotogora, R. Brauer, 1991, American journal of medical genetics.

Screening newborns for TP53.

J. Zlotogora, 2009, The Lancet. Oncology.

The impact of prenatal diagnosis and termination of pregnancy on the relative incidence of malformations at birth among Jews and Muslim Arabs in Israel.

J. Zlotogora, Z. Haklai, L. Rubin, 2010, The Israel Medical Association journal : IMAJ.

Relative prevalence of malformations at birth among different religious communities in Israel

Y. Amitai, A. Leventhal, J. Zlotogora, 2003, American journal of medical genetics. Part A.

On the inheritance of the split hand/split foot malformation.

J. Zlotogora, 1994, American journal of medical genetics.

Medical Genetics in Israel

J. Zlotogora, J. Chemke, 1995, European journal of human genetics : EJHG.

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel.

J. Zlotogora, M. Shohat, L. Basel‐Vanagaite, 2008, Genetic testing.

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.

Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes.

J. Zlotogora, G. Bach, E. Elian, 1980, American journal of human genetics.

High incidence of deafness from three frequent connexin 26 mutations in an isolated community.

A. Chakravarti, J. Zlotogora, S. Shalev, 2006, Genetic testing.

Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel

J. Zlotogora, D. Wenger, P. Luzi, 1996, Human Genetics.

Prenatal exclusion of stickler syndrome

J. Zlotogora, R. Knowlton, M. Granat, 1994, Prenatal diagnosis.

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.

Genetics and genomic medicine in Israel

J. Zlotogora, 2014, Molecular genetics & genomic medicine.

The Israeli national population program of genetic carrier screening for reproductive purposes

I. Grotto, J. Zlotogora, E. Kaliner, 2015, Genetics in Medicine.

A long-term follow up of premarital counseling in the Israeli Arab population

J. Zlotogora, S. Shalev, 2014, Journal of Community Genetics.

ETHNOS: A versatile electronic tool for the development and curation of national genetic databases

Vassiliki Gkantouna, Giovanni Romeo, Konstantinos Poulas, 2010, Human Genomics.

A comprehensive screening program for cystic fibrosis.

A. Israeli, J. Zlotogora, 2009, The Israel Medical Association journal : IMAJ.

A targeted population carrier screening program for severe and frequent genetic diseases in Israel

Boaz Lev, Joël Zlotogora, R. Carmi, 2009, European Journal of Human Genetics.

Population programs for the detection of couples at risk for severe monogenic genetic diseases

Joël Zlotogora, J. Zlotogora, 2009, Human Genetics.

The Israeli National Genetic Database.

G. Patrinos, S. van Baal, J. Zlotogora, 2009, The Israel Medical Association journal : IMAJ.

Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community

J. Zlotogora, S. Shalev, B. Bisharat, 2006, American journal of medical genetics. Part A.

Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for high rates of pregnancy termination

V. Meiner, J. Zlotogora, M. Sagi, 2001, Prenatal diagnosis.

Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village.

J. Zlotogora, S. Shalev, H. Habiballah, 2000, American journal of medical genetics.

Molecular genetics of metachromatic leukodystrophy

C. P. Morris, A. Harris, V. Gieselmann, 1994, Journal of inherited metabolic disease.

A muscle disorder as presenting symptom in a child with mucolipidosis IV.

J. Zlotogora, T. Cohen, N. Livni, 1983, Neuropediatrics.

Treatment of the hematological manifestations of dyskeratosis congenita

C. Putterman, J. Zlotogora, R. Safadi, 1993, Annals of Hematology.

Polyglandular autoimmune syndrome type I among Iranian Jews.

J. Zlotogora, M. Shapiro, Menachem S Shapiro, 1992, Journal of medical genetics.

Syndactyly, ectodermal dysplasia, and cleft lip/palate.

J. Zlotogora, 1988, Journal of medical genetics.

Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?

J. Zlotogora, Y. Zilberman, A. Tenenbaum, 1987, Journal of medical genetics.

X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis.

J. Zlotogora, 1995, American journal of medical genetics.

Prenatal diagnosis of Krabbe disease using a fluorescent derivative of galactosylceramide.

J. Zlotogora, S. Gatt, A. Dagan, 1984, Clinica chimica acta; international journal of clinical chemistry.

Genetic heterogeneity in Gaucher disease.

J. Zlotogora, R. Zaizov, T. Cohen, 1986, Journal of medical genetics.

Anorectal malformations and Down syndrome.

O. Lernau, J. Zlotogora, M. Sagi, 1989, American journal of medical genetics.

Latent viruses and Bell's palsy in children.

J. Zlotogora, N. Varsano, E. Elian, 1978, European neurology.

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

A Chakravarti, A. Chakravarti, M. Carrasquillo, 1997, Human molecular genetics.

Germ line mosaicism

Joël Zlotogora, J. Zlotogora, 1998, Human Genetics.

A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population

D. Bercovich, Y. Anikster, R. Loewenthal, 2008, Annals of human genetics.

Asplenia and polysplenia syndromes with abnormalities of lateralisation in a sibship.

J. Zlotogora, E. Elian, 1981, Journal of medical genetics.

Dominance and homozygosity.

J. Zlotogora, 1997, American journal of medical genetics.

A complex three way translocation resulting in two sibs with partial trisomy 3p23----3pter.

E. Kerem, J. Zlotogora, H. Hurvitz, 1984, Journal of medical genetics.

Biallelic variants in PAX3 cause Klein syndrome

V. Meiner, J. Zlotogora, Somaya Salah, 2022, Clinical genetics.

Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database

George P Patrinos, Joël Zlotogora, G. Patrinos, 2007, Human mutation.

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.

The Fate of 12 Recessive Mutations in A Single Village

A. Chakravarti, J. Zlotogora, S. Shalev, 2007, Annals of human genetics.

The Effect of Genetic Counseling on Knowledge and Perceptions Regarding Risks for Breast Cancer

T. Peretz, J. Zlotogora, M. Sagi, 1998, Journal of Genetic Counseling.

Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles

J. Zlotogora, 2004, Human Genetics.

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.

Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

H. Daum, V. Meiner, J. Zlotogora, 2020, European Journal of Human Genetics.

Unilateral radial aplasia and trisomy 22 mosaicism.

J. Zlotogora, I. Halbrecht, E. Elian, 1981, Journal of medical genetics.

What is the birth defect risk associated with consanguineous marriages?

J. Zlotogora, 2002, American journal of medical genetics.

Utilization of prenatal diagnosis and termination of pregnancies for the prevention of Down syndrome in Israel.

Alex Leventhal, Joël Zlotogora, A. Leventhal, 2007, The Israel Medical Association journal : IMAJ.

Are individuals born as twins at a higher risk of developing Crohn's disease?

J. Zlotogora, D. Rachmilewitz, 1989, Gut.

Heterozygote detection in Hunter syndrome.

J. Zlotogora, G. Bach, Gideon Bach, 1984, American journal of medical genetics.

High frequencies of human genetic diseases: founder effect with genetic drift or selection?

J. Zlotogora, 1994, American journal of medical genetics.

A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.

K. von Figura, K. Figura, A. Harris, 1994, Journal of medical genetics.

Recessive or dominant? Reclassification in the molecular age

J. Zlotogora, 1998, Clinical genetics.

The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.

J. Zlotogora, M. Sagi, T. Cohen, 1983, American journal of human genetics.

Thomas syndrome: potter sequence with cleft lip/palate and cardiac anomalies.

A. Eidelman, S. Yagel, A. Ornoy, 1996, American journal of medical genetics.

Are the wolffian anomalies in males the phenotype corresponding to the müllerian anomalies in females?

J. Zlotogora, 1993, American journal of medical genetics.

Syndrome of tetraamelia with pulmonary hypoplasia.

J. Zlotogora, M. Sagi, Y. O. Shabany, 1993, American journal of medical genetics.

Multiple mutations responsible for frequent genetic diseases in isolated populations

J. Zlotogora, 2007, European Journal of Human Genetics.

A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23.

P. Gasparini, A. Kitzis, D. Bonneau, 1996, American journal of human genetics.

Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.

V. Gieselmann, J. Zlotogora, S. Kafert, 1995, American journal of human genetics.

Hunter syndrome in Jews in Israel: further evidence for prenatal selection favoring the Hunter allele

J. Zlotogora, M. Zeigler, G. Bach, 1991, Human Genetics.

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.

Hunter's syndrome: activity of iduronate sulfate sulfatase in the serum of pregnant heterozygotes.

J. Zlotogora, G. Bach, 1984, The New England journal of medicine.

Aspartylglucosaminuria among Palestinian Arabs

J. Zlotogora, Z. Ben‐Neriah, M. Zeigler, 1997, Journal of Inherited Metabolic Disease.

A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.

A. Munnich, J. Gomori, S. Lyonnet, 2004, Brain : a journal of neurology.

Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis.

J. Zlotogora, R. Knowlton, D. Wenger, 1993, American journal of human genetics.

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.

R. Ofir, O. Birk, O. Barel, 2008, American journal of human genetics.

ARH mutations and hypercholesterolaemia in Sardinia

J. Zlotogora, 2002, The Lancet.

Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community

Y. Frishberg, M. Männikkö, J. Zlotogora, 2007, Genetics in Medicine.

Intrafamilial variability in lysosomal storage diseases.

J. Zlotogora, 1987, American journal of medical genetics.

Krabbe disease: increased incidence in a highly inbred community.

J. Zlotogora, M. Zeigler, G. Bach, 1985, American journal of medical genetics.

Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews

K. von Figura, V. Gieselmann, J. Zlotogora, 1995, Human mutation.

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

D J Prockop, I. Kaitila, A. Latos-Bieleńska, 1999, American journal of human genetics.

Fanconi Anemia Gene Variants in Patients with Gonadal Dysfunction

H. Daum, J. Zlotogora, 2021, Reproductive Sciences.

PSEUDODEFICIENCIES IN LYSOSOMAL STORAGE DISORDERS

J. Zlotogora, G. Bach, 1985, The Lancet.

Deficiency of lysosomal hydrolases in apparently healthy individuals.

J. Zlotogora, G. Bach, 1983, American journal of medical genetics.

Forty‐seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs

J. Zlotogora, 2021, Clinical genetics.

Hunter syndrome: prenatal diagnosis in maternal serum.

J. Zlotogora, G. Bach, 1986, American journal of human genetics.

The genetics of the aryl sulfatase A locus.

J. Zlotogora, G. Bach, T. Schaap, 1981, American journal of human genetics.

Problems in the clinical interpretation of arylsulfatase A deficiency.

J. Zlotogora, G. Bach, T. Schaap, 1981, American journal of medical genetics.

The impact of congenital malformations and Mendelian diseases on infant mortality in Israel.

Y. Amitai, A. Leventhal, J. Zlotogora, 2003, The Israel Medical Association journal : IMAJ.

Prevalence of inflammatory bowel disease in family members of Jewish Crohn's disease patients in Israel

J. Zlotogora, D. Rachmilewitz, J. Zimmerman, 1991, Digestive Diseases and Sciences.

Genetic screening for reproductive purposes at school: Is it a good strategy?

A. Frumkin, J. Zlotogora, 2008, American journal of medical genetics. Part A.

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size

O. Birk, B. Markus, T. Harel, 2016, PLoS genetics.

The femur, fibula, ulna (FFU) complex in siblings

J. Zlotogora, T. Cohen, G. Robin, 1983, Clinical genetics.

Recommendations for Genetic Variation Data Capture in Developing Countries to Ensure a Comprehensive Worldwide Data Collection

George P Patrinos, Finlay Macrae, G. Patrinos, 2010, Human mutation.

Parental decisions to abort or continue a pregnancy with an abnormal finding after an invasive prenatal test

J. Zlotogora, 2002, Prenatal diagnosis.

High incidence of profound deafness in an isolated community.

J. Zlotogora, S. Barges, 2003, Genetic testing.

Autosomal recessive, DYT2-like primary torsion dystonia: A new family

J. Zlotogora, 2004, Neurology.

Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.

N. Baumann, V. Gieselmann, J. Zlotogora, 2000, American journal of medical genetics.

Krabbe disease in Israel.

J. Zlotogora, E. Levy-Lahad, M. Zeigler, 1991, Israel journal of medical sciences.

Growth Pattern in Krabbe's Disease

J. Zlotogora, T. Iancu, R. Regev, 1986, Acta paediatrica Scandinavica.

Behr's syndrome and 3-methylglutaconic aciduria.

O. Elpeleg, J. Zlotogora, D. Benezra, 1992, American journal of ophthalmology.

Isochromosome 18p in a mother and her child.

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

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

J. Zlotogora, 2019, Israel journal of health policy research.

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

A. Munnich, S. Hanein, J. Zlotogora, 2002, Ophthalmic genetics.

Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype.

K. von Figura, V. Gieselmann, J. Zlotogora, 1994, American journal of medical genetics.

A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme

V. Gieselmann, J. Zlotogora, S. Kafert, 1995, Human Genetics.

On the inheritance of "new" syndromes.

J. Zlotogora, 1998, American journal of medical genetics.

Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD

G. Patrinos, V. Meiner, J. Zlotogora, 2018, Genetics in Medicine.

The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations

J. Zlotogora, S. Shalev, 2010, American journal of medical genetics. Part A.

Marriage Patterns and Reproductive Decision-Making in the Inhabitants of a Single Muslim Village during a 50-Year Period

J. Zlotogora, S. Shalev, 2014, Human Heredity.

Marriage Patterns and Reproductive Decision-Making in the Inhabitants of a Single Muslim Village during a 50-Year Period

J. Zlotogora, S. Shalev, 2014, Human Heredity.

Changing family structure in a modernizing society: A study of marriage patterns in a single Muslim village in Israel

J. Zlotogora, S. Barges, H. Habiballa, 2002, American journal of human biology : the official journal of the Human Biology Council.

Variability of Stickler syndrome.

J. Zlotogora, M. Sagi, H. Leiba, 1992, American journal of medical genetics.

The effects of a connexin 26 mutation – 35delG – on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers

H. Pratt, B. Engel-Yeger, J. Zlotogora, 2002, Hearing Research.

Otoacoustic emissions and brainstem evoked potentials in compound carriers of connexin 26 mutations

H. Pratt, M. Carrasquillo, B. Engel-Yeger, 2003, Hearing Research.

Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.

A. Munnich, S. Lyonnet, J. Zlotogora, 1999, American Journal of Human Genetics.

Gaucher disease type I and pregnancy.

J. Zlotogora, M. Sagi, M. Zeigler, 1989, American journal of medical genetics.

Autosomal dominant inheritance of Klein-Waardenburg syndrome.

J. Zlotogora, R. Sheffer, 1992, American journal of medical genetics.

Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder.

J. Zlotogora, 1999, American journal of medical genetics.

Gerodermia osteodysplastica: report on two patients and surgical correction of facial deformity.

J. Zlotogora, O. Nahlieli, J. Lustmann, 1993, American journal of medical genetics.

Autosomal dominant inheritance with sex‐limited infertility

H. Daum, J. Zlotogora, 2023, American journal of medical genetics. Part A.

Crohn's disease in Ashkenazi Jews.

J. Zlotogora, D. Rachmilewitz, J. Zimmerman, 1990, Gastroenterology.

Female infant affected with an X-linked disease.

J. Zlotogora, 1991, Jornal de Pediatria.

Hyperphosphatasemia in infantile GM1 gangliosidosis: possible association with microscopic bone marrow osteoblastosis.

B. Mogilner, J. Zlotogora, M. Amitay, 1990, The Journal of pediatrics.

Syndrome of brittle cornea, blue sclera, and joint hyperextensibility.

J. Zlotogora, T. Cohen, D. Benezra, 1990, American journal of medical genetics.

Ashkenazi carrier screening for reproductive planning: is this what we planned for?

V. Meiner, J. Zlotogora, 2015, Genetics in Medicine.

Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data.

T. Harel, V. Meiner, J. Zlotogora, 2023, European journal of medical genetics.

The functional consequences of mis-sense mutations affecting an intra-molecular salt bridge in arylsulphatase A.

V. Gieselmann, J. Zlotogora, R. Klein, 2002, The Biochemical journal.

Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD

G. Patrinos, V. Meiner, J. Zlotogora, 2018, Genetics in Medicine.

Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta.

J. Zlotogora, Z. Borochowitz, Y. Tal, 1993, American journal of medical genetics.

Autosomal recessive colobomatous microphthalmia.

J. Zlotogora, D. Benezra, C. Legum, 1994, American journal of medical genetics.

Syndactyly, ectodermal dysplasia, and cleft lip and palate.

J. Zlotogora, G. Oǧur, 1988, Journal of medical genetics.

Autosomal recessive diseases among the Israeli Arabs

J. Zlotogora, 2019, Human Genetics.

Detection of chromosome aberrations during prenatal genetic testing for single gene disorders

J. Zlotogora, 2005, Prenatal Diagnosis.

Congenital cutis laxa

J. Zlotogora, 1987, Clinical genetics.

Origin and expansion of four different beta globin mutations in a single Arab village

A. Chakravarti, J. Zlotogora, S. Shalev, 2005, American journal of human biology : the official journal of the Human Biology Council.

The Israeli National Genetic database: a 10-year experience

G. Patrinos, J. Zlotogora, 2017, Human Genomics.

Surveillance of neural tube defects in Israel.

Y. Amitai, A. Leventhal, J. Zlotogora, 2002, The Israel Medical Association journal : IMAJ.

A long-term follow up of premarital counseling in the Israeli Arab population

J. Zlotogora, S. Shalev, 2014, Journal of Community Genetics.

Major gene is responsible for anencephaly among Iranian Jews.

J. Zlotogora, 1995, American journal of medical genetics.

Mucolipidosis III and bardet-biedl syndrome in the same family: Diagnostic pitfalls

C. Gordon, N. Gadoth, M. Frydman, 1990, Brain and Development.

Homozygosity forWaardenburg Syndrome

I. Lerer, J. Zlotogora, Z. Ergaz, 1995 .

Paracentric inversion X(q21.2q24) associated with mental retardation in males and normal ovarian function in females.

C. Kimchi-Sarfaty, D. Abeliovich, J. Zlotogora, 1995, American journal of medical genetics.

A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism.

J. Zlotogora, Ziva Ben-Neriah, Judith Dagan, 1997, Journal of medical genetics.

The Effect of Genetic Counseling on Knowledge and Perceptions Regarding Risks for Breast Cancer

T. Peretz, J. Zlotogora, M. Sagi, 1998, Journal of Genetic Counseling.