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M. Indelman · SciRah

Researcher profile · Semantic Scholar

M. Indelman

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M. Indelman — researcher profile on SciRah

h-index: 29
Works: 49
Citations: 3,161

Most-cited papers

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
O. Topaz, Daniel L. Shurman, R. Bergman, M. Indelman +11 more
2004Nature Genetics571 citations
Semantic Scholar
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.
H. Mandel, R. Shemer, Z. Borochowitz, M. Okopnik +7 more
2008American Journal of Human Genetics246 citations Open access
Semantic Scholar
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
L. Basel-Vanagaite, Revital Attia, A. Ishida-Yamamoto, L. Rainshtein +9 more
2007American Journal of Human Genetics182 citations Open access
Semantic Scholar
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.
E. Sprecher, A. Ishida-Yamamoto, Mordechai Mizrahi-Koren, D. Rapaport +12 more
2005American Journal of Human Genetics182 citations Open access
Semantic Scholar
Detection of a chromosomal region with two quantitative trait loci, affecting cold tolerance and fish size, in an F2 tilapia hybrid
A. Cnaani, E. Hallerman, M. Ron, J. Weller +4 more
2003154 citations
Semantic Scholar
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
O. Topaz, M. Indelman, I. Chefetz, D. Geiger +8 more
2006American Journal of Human Genetics137 citations Open access
Semantic Scholar
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
J. Lugassy, P. Itin, A. Ishida-Yamamoto, K. Holland +10 more
2006American Journal of Human Genetics126 citations Open access
Semantic Scholar
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification
I. Chefetz, R. Heller, A. Galli-Tsinopoulou, G. Richard +7 more
2005Human Genetics122 citations
Semantic Scholar
Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris.
O. Sarig, S. Bercovici, L. Zoller, I. Goldberg +22 more
2012Journal of Investigative Dermatology94 citations Open access
Semantic Scholar
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
I. Chefetz, D. Ben Amitai, Sarah L. Browning, K. Skorecki +9 more
2008Journal of Investigative Dermatology90 citations Open access
Semantic Scholar
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred
Polina Specktor, J. Cooper, M. Indelman, E. Sprecher
2006Journal of Human Genetics82 citations Open access
Semantic Scholar
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
J. Nousbeck, R. Spiegel, A. Ishida-Yamamoto, M. Indelman +12 more
2008American Journal of Human Genetics80 citations Open access
Semantic Scholar
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.
M. Indelman, R. Bergman, Danny Petronius, Dan Ciubutaro +5 more
2002Journal of Investigative Dermatology76 citations Open access
Semantic Scholar
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
Judeh Abu Sa'd, M. Indelman, E. Pfendner, T. Falik-Zaccai +14 more
2006Journal of Investigative Dermatology70 citations Open access
Semantic Scholar
Epidermolysis bullosa simplex in Israel: clinical and genetic features.
Dan Ciubotaru, R. Bergman, D. Baty, M. Indelman +8 more
2003Archives of Dermatology62 citations Open access
Semantic Scholar
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.
M. Indelman, C. Hamel, R. Bergman, K. Nischal +10 more
2003Journal of Investigative Dermatology60 citations Open access
Semantic Scholar
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
E. Sprecher, G. Yosipovitch, R. Bergman, Dan Ciubutaro +6 more
2003Journal of Investigative Dermatology50 citations Open access
Semantic Scholar
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.
O. Eytan, D. Fuchs-Telem, Baruch Mevorach, M. Indelman +5 more
2014Journal of Investigative Dermatology49 citations Open access
Semantic Scholar
Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.
D. Hershkovitz, H. Mandel, A. Ishida-Yamamoto, I. Chefetz +5 more
2008Archives of Dermatology49 citations Open access
Semantic Scholar
Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy
M. Indelman, J. Eason, Marybeth Hummel, O. Loza +5 more
2007Clincal and Experimental Dermatology47 citations
Semantic Scholar
Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.
E. Sprecher, V. Molho-Pessach, A. Ingber, E. Sagi +2 more
2004Journal of Investigative Dermatology46 citations Open access
Semantic Scholar
Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.
A. Harel, R. Bergman, M. Indelman, E. Sprecher
2006Journal of Investigative Dermatology42 citations Open access
Semantic Scholar
A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.
E. Avitan-Hersh, H. Mandel, M. Indelman, G. Bar-Joseph +2 more
2011American journal of dermatopathology39 citations
Semantic Scholar
Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
M. Indelman, R. Leibu, A. Jammal, Reuven Bergman +1 more
2005British Journal of Dermatology39 citations
Semantic Scholar
Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23.
E. Avitan-Hersh, Sameh Tatur, M. Indelman, Vardit Gepstein +5 more
2014Journal of Clinical Endocrinology and Metabolism37 citations Open access
Semantic Scholar
Insulin-like growth factor-binding protein 7 regulates keratinocyte proliferation, differentiation and apoptosis.
J. Nousbeck, O. Sarig, N. Avidan, M. Indelman +4 more
2010Journal of Investigative Dermatology37 citations Open access
Semantic Scholar
A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper‐IgE syndrome
T. Hershkovitz, G. Hassoun, M. Indelman, L. Shlush +3 more
2006Clincal and Experimental Dermatology34 citations
Semantic Scholar
Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations.
R. Bergman, D. Hershkovitz, D. Fuchs, M. Indelman +2 more
2010Journal of American Academy of Dermatology32 citations
Semantic Scholar
Rapid detection of homozygous mutations in congenital recessive ichthyosis
J. Lugassy, H. Hennies, M. Indelman, Z. Khamaysi +2 more
2008Archives of Dermatological Research31 citations
Semantic Scholar
Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations.
Mordechai Mizrachi-Koren, Sa'ar Shemer, M. Morgan, M. Indelman +6 more
2006Journal of American Academy of Dermatology27 citations
Semantic Scholar
Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.
H. Mandel, Ksenya Cohen Katsanelson, M. Khayat, Ilana Chervinsky +7 more
2014European Journal of Medical Genetics26 citations
Semantic Scholar
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families
S. Nahum, Sandra M. Pasternack, J. Pforr, M. Indelman +7 more
2009Archives of Dermatological Research26 citations
Semantic Scholar
Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.
Mordechai Mizrachi-Koren, D. Geiger, M. Indelman, O. Bitterman-Deutsch +2 more
2005Journal of Investigative Dermatology26 citations Open access
Semantic Scholar
Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression.
B. Burger, D. Hershkovitz, M. Indelman, M. Kováč +4 more
2010EJD. European journal of dermatology23 citations
Semantic Scholar
ADULT Syndrome Caused by a Mutation Previously Associated with EEC Syndrome
E. Avitan-Hersh, M. Indelman, R. Bergman, E. Sprecher
2010Pediatric dermatology23 citations
Semantic Scholar
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome
F. Gok, I. Chefetz, M. Indelman, M. Kocaoğlu +1 more
2009Acta Orthopaedica23 citations Open access
Semantic Scholar
Acrokeratosis Verruciformis of Hopf Showing P602L Mutation in ATP2A2 and Overlapping Histopathological Features With Darier Disease
R. Bergman, T. Sezin, M. Indelman, Wissam Helou +1 more
2012American journal of dermatopathology20 citations
Semantic Scholar
A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
E. Avitan-Hersh, M. Indelman, Z. Khamaysi, R. Leibu +1 more
2012International Journal of Dermatology19 citations
Semantic Scholar
Identification of mutations in the human hairless gene in two new families with congenital atrichia
R. Betz, M. Indelman, J. Pforr, Felix Schreiner +6 more
2007Archives of Dermatological Research19 citations
Semantic Scholar
Epidermolytic Acanthoma of the Genitalia Does Not Show Mutations in KRT1 or KRT10.
Ella Egozi-Reinman, E. Avitan-Hersh, A. Barzilai, M. Indelman +1 more
2016American journal of dermatopathology13 citations Open access
Semantic Scholar
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12
T. Goldsmith, D. Fuchs-Telem, S. Israeli, O. Sarig +5 more
2013Experimental Dermatology10 citations
Semantic Scholar
A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course
Mariela J. Nevet, M. Indelman, J. Ben-ari, R. Bergman
2017International Journal of Dermatology9 citations
Semantic Scholar
Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
S. Israeli, O. Sarig, B. Garty, M. Indelman +3 more
2014Dermatology9 citations
Semantic Scholar
A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex.
M. Indelman, R. Bergman, E. Sprecher
2005Journal of Investigative Dermatology9 citations Open access
Semantic Scholar
Human amnion membrane as a substrate for the detection of autoantibodies in pemphigus vulgaris and bullous pemphigoid.
T. Sezin, E. Avitan-Hersh, M. Indelman, Roni A. Moscona +4 more
2014The Israel Medical Association journal : IMAJ7 citations
Semantic Scholar
A Novel Missense Mutation in CIAS1 Encoding the Pyrin-Like Protein, Cryopyrin, Causes Familial Cold Autoinflammatory Syndrome in a Family of Ethiopian Origin
S. Shalev, E. Sprecher, M. Indelman, Yaser Hujirat +2 more
2007International Archives of Allergy and Immunology5 citations
Semantic Scholar
The histopathology and phenotypic variability in H syndrome
D. Dias-Polak, M. Indelman, R. Bergman, E. Avitan-Hersh
2018Clinical Case Reports4 citations Open access
Semantic Scholar
Acantholysis in Striate Keratoderma as a Clue to the Diagnosis of a Genetic Abnormality.
M. Nevet, M. Indelman, R. Bergman
2015American journal of dermatopathology1 citations
Semantic Scholar
ILDS Newsletter No. 31
R. Joseph, M. Shvartsbeyn, Canan Günay, G. Akpek +91 more
2014Dermatology0 citations Open access
Semantic Scholar

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