Z. Borochowitz

发表

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.

S. Mundlos, F. Westermann, N. Laing, 2001 .

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

R. Carmi, M. Horowitz, N. Navot, 1998, Human mutation.

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

V. Sheffield, R. Carmi, D. Landau, 2002, Nature Genetics.

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.

H. Mandel, M. Indelman, E. Sprecher, 2008, American journal of human genetics.

Sleep apnea in fragile X syndrome.

E. Tirosh, Z. Borochowitz, 1992, American journal of medical genetics.

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

R. Gershoni-baruch, E. Dagan, A. Kurolap, 2014, European Journal of Human Genetics.

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study

R. Gershoni-baruch, E. Dagan, A. Kurolap, 2013, European Journal of Human Genetics.

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

J. Beckmann, A. Innes, A. Baxova, 2009, American journal of human genetics.

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

I. Winship, A. Renieri, F. Mari, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

N. Katsanis, P. Beales, H. Kayserili, 2009, Journal of Medical Genetics.

Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

Rui Zhang, R. DeFronzo, J. Martignetti, 2013, American journal of human genetics.

Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

A. Munnich, N. Dagoneau, V. Cormier-Daire, 2004, Journal of Medical Genetics.

Patients’ Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients’ Sociodemographic Background and Counseling Experience

E. Pras, R. Spiegel, S. Shalev, 2016, Journal of Genetic Counseling.

Diagnostic approach to the etiology of mental retardation.

Z. Borochowitz, M. Jaffe, H. Dar, 1984, Israel journal of medical sciences.

New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.

L. Pavone, R. Rizzo, Z. Borochowitz, 1992, American journal of medical genetics.

Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype.

E. Eichler, D. Nelson, M. Yalon, 1997, American journal of human genetics.

Does 1,25-dihydroxyvitamin D participate in the regulation of hormone release from endocrine glands?

Z. Hochberg, Z. Spirer, Z. Borochowitz, 1985, The Journal of clinical endocrinology and metabolism.

Stature Physiology and Pathology

D. Rimoin, Z. Borochowitz, W. Horton, 2005 .

VITAMIN D RESISTANT RICKETS WITH ALOPECIA: A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN D

Z. Borochowitz, G. Bar-Joseph, D. Kohelet, 1981, Clinical endocrinology.

Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups.

K. Jones, D. Rimoin, Z. Borochowitz, 1988, The Journal of pediatrics.

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

A. Munnich, C. Bole-Feysot, P. Nitschké, 2013, American journal of human genetics.

Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome

D. Kidron, A. Amiel, M. Fejgin, 2002, Clinical genetics.

A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia.

K. Jones, R. Silbey, D. Rimoin, 1986, American journal of medical genetics.

DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex

E. Lane, R. Bergman, T. Falik-Zaccai, 2000, Prenatal diagnosis.

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.

M. Indelman, J. Uitto, R. Bergman, 2006, The Journal of investigative dermatology.

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

T. Meitinger, S. Schuffenhauer, P. Lichtner, 1998, European Journal of Human Genetics.

SMPD1 mutations and Parkinson disease.

J. Aharon-Peretz, R. Gershoni-baruch, E. Dagan, 2015, Parkinsonism & related disorders.

Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization.

R. Carmi, I. Lerer, M. Shohat, 2000, The Israel Medical Association journal : IMAJ.

Should fetal karyotyping be performed in RPL?: – Against

Z. Borochowitz, 2007 .

Mucolipidosis III type C: first‐trimester biochemical and molecular prenatal diagnosis

Z. Borochowitz, M. Zeigler, G. Bach, 2003, Prenatal diagnosis.

Deletion of the short arm of chromosome 10 (10p13): report of a patient and review.

Amos Etzioni, Z. Borochowitz, A. Lorber, 1994, American journal of medical genetics.

Novel SMARCAL1 Bi-allelic Mutations Associated with a Chromosomal Breakage Phenotype in a Severe SIOD Patient

Y. Lerenthal, A. Simon, R. Somech, 2013, Journal of Clinical Immunology.

Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.

E. Shalev, S. Shalev, Z. Borochowitz, 1999, American journal of medical genetics.

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

D. Rimoin, H. Gruber, Z. Borochowitz, 1993, American journal of medical genetics.

Familial Caffey's disease and late recurrence in a child

D. Gozal, Z. Borochowitz, J. Boss, 1991, Clinical genetics.

Attitudes of Israeli Muslims at Risk of Genetic Disorders towards Pregnancy Termination

E. Neter, Z. Borochowitz, Yael Wolowelsky, 2005, Public Health Genomics.

DNA‐based carrier detection and prenatal diagnosis of tyrosinase‐negative oculocutaneous albinism (OCA1A)

R. Spritz, Z. Borochowitz, A. Rosenmann, 1995, Prenatal diagnosis.

The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature.

M. Berant, Z. Borochowitz, N. Berant, 1989, Neurofibromatosis.

Very low maternal serum unconjugated estriol and prenatal diagnosis of steroid sulfatase deficiency.

Z. Borochowitz, H. Dar, R. Merksamer, 1995, Fetal diagnosis and therapy.

Ataxia-telangiectasia: Linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome

Y. Shiloh, M. Lathrop, C. Julier, 1992, Human Genetics.

Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity.

D. Rimoin, A. Ornoy, Z. Borochowitz, 1986, American journal of medical genetics.

Deletion (4)(q33—>qter): A Case Report and Review of the Literature

S. Shalev, E. Tirosh, Z. Borochowitz, 1997, Journal of child neurology.

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

S. Mundlos, F. Westermann, N. Laing, 2001, Nature Genetics.

Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects

M. Khayat, A. Zlotogorski, M. Ziv, 2016, The British journal of dermatology.

Response to ‘Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects’: reply from the authors

M. Khayat, A. Zlotogorski, M. Ziv, 2016, The British journal of dermatology.

Interstitial deletion (6)q13q15.

H. Mandel, R. Gershoni-baruch, Z. Borochowitz, 1996, American journal of medical genetics.

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Hiroshi I. Suzuki, P. Sharp, A. Nordgren, 2019, Nature Medicine.

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Hiroshi I. Suzuki, P. Sharp, A. Nordgren, 2019, Nature Medicine.

Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations.

M. Sharf, S. Degani, Z. Borochowitz, 1992, American journal of medical genetics.

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

Lars Otten, Mark Silberstein, Rina Dechter, 2013, Bioinform..

Language in boys with fragile X syndrome.

Y. Levy, M. Frydman, M. Sagi, 2006, Journal of child language.

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.

R. Spiegel, S. Shalev, Z. Borochowitz, 2012, European journal of medical genetics.

Spondylometaphyseal dysplasia: further heterogeneity

M. Berant, Z. Borochowitz, Haim Kristal, 2004, Skeletal Radiology.

Facio-cutaneous-skeletal syndrome: New nosological entity or Costello syndrome?

L. Pavone, R. Rizzo, Z. Borochowitz, 1993 .

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel

R. Gershoni-baruch, A. Orr-Urtreger, T. Falik-Zaccai, 2009, Genetics in Medicine.

Preauricular tags and pits in the newborn: the role of hearing tests

D. Bader, A. Kugelman, Z. Borochowitz, 1997, Acta paediatrica.

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

J. Melki, J. Sosna, R. Belostotsky, 2009, American journal of human genetics.

CHANGES IN THE SYDNEY LINE DURING THE FIRST YEAR OF LIFE

Z. Borochowitz, H. Dar, S. Winter, 1983, Developmental medicine and child neurology.

Asymmetric Crying Facies

Z. Borochowitz, M. Shapira, 2009 .

Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome.

S. Blazer, Z. Borochowitz, Z Borochowitz, 1991, Journal of medical genetics.

Inherited inverted duplication of X chromosome in a male: report of a patient and review of the literature.

Z. Borochowitz, M. Shapira, L. Even, 1997, American journal of medical genetics.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.

O. Sarig, J. Uitto, E. Sprecher, 2012, American journal of human genetics.

Transient methemoglobinemia with acidosis and hyperchloremia in infants.

A. Lanir, Z. Borochowitz, T. Kaplan, 1986, The American journal of pediatric hematology/oncology.

Novel SMARCAL1 Bi-allelic Mutations Associated with a Chromosomal Breakage Phenotype in a Severe SIOD Patient

Y. Lerenthal, A. Simon, R. Somech, 2013, Journal of Clinical Immunology.

Upper limb malformations in chromosome 22q11 deletions.

S. Shalev, Z. Borochowitz, H. Dar, 1996, American journal of medical genetics.

Autosomal-recessive omodysplasia: prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bones.

E. Sabo, Z. Borochowitz, J. Boss, 1998, American journal of medical genetics.

Familial congenital micromelic dysplasia with dislocation of radius and distinct face: a new skeletal dysplasia syndrome.

Z. Borochowitz, M. Barak, S. Hershkowitz, 1991, American journal of medical genetics.

Absence of association of inherited thrombophilia with unexplained third-trimester intrauterine fetal death.

G. Ohel, N. Lavi, R. Gonen, 2004, American journal of obstetrics and gynecology.

Dependence of maternal serum [AFP]/[hCG] median ratios on age of gestation: comparison of trisomy 21 to euploid pregnancies

E. Manor, Y. Yaron, S. Shalev, 2009, Prenatal diagnosis.

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

E. Jabs, B. Korf, J. Mulliken, 1998, American journal of human genetics.

Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity?

Z. Borochowitz, 1991, American journal of medical genetics.

syndrome . fractures in sibs : a lethal new bone ( SMA ) and multiple congenital Infantile spinal muscular atrophy

S. Blazer, Z. Borochowitz, B. Glick, 2004 .

Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfism.

Z. Borochowitz, A. Reichler, J. Bejar, 1994, American journal of medical genetics.

Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle alpha-actin gene.

N. Laing, H. Goez, Y. Nevo, 2005, Journal of child neurology.

Early metabolic defects in Arab subjects with strong family history of Type 2 diabetes

R. DeFronzo, M. Abdul-Ghani, K. Karkabi, 2013, Journal of Endocrinological Investigation.

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

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

Bilirubin and protein concentration in cord blood after spontaneous versus induced labor. Correlation to neonatal hyperbilirubinemia.

M. Sharf, Z. Borochowitz, M. Granat, 1981, Journal of Perinatal Medicine.

Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene

N. Adir, S. Shalev, Z. Borochowitz, 2010, Muscle & nerve.

Down Syndrome Prevention Program in a Population With an Older Maternal Age

M. Shohat, Z. Borochowitz, Y. Romem, 1995, Obstetrics and gynecology.

Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel—update

M. Shohat, N. Magal, O. Reish, 2009, Genetics in Medicine.

Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.

Rui Zhang, R. DeFronzo, J. Martignetti, 2013, American journal of human genetics.

Familial recurrent dislocation of patella with autosomal dominant mode of inheritance

M. Soudry, Z. Borochowitz, D. Mendes, 1988, Clinical genetics.