M. Indelman

发表

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, 2022 .

Identification of mutations in the human hairless gene in two new families with congenital atrichia

S. Cichon, M. Nöthen, M. Indelman, 2007, Archives of Dermatological Research.

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.

Hanna Mandel, Eli Sprecher, H. Mandel, 2005, American journal of human genetics.

Insulin-like growth factor-binding protein 7 regulates keratinocyte proliferation, differentiation and apoptosis.

O. Sarig, M. Indelman, R. Bergman, 2010, The Journal of investigative dermatology.

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.

ADULT Syndrome Caused by a Mutation Previously Associated with EEC Syndrome

M. Indelman, R. Bergman, E. Sprecher, 2010, Pediatric dermatology.

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

M. Indelman, R. Bergman, G. Richard, 2005, Human Genetics.

Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred

M. Indelman, E. Sprecher, J. Cooper, 2006, Journal of Human Genetics.

Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome

M. Indelman, E. Sprecher, I. Chefetz, 2009, Acta orthopaedica.

A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.

M. Indelman, R. Bergman, G. Richard, 2002, The Journal of investigative dermatology.

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.

A. Ishida-Yamamoto, D. Geiger, M. Indelman, 2008, American journal of human genetics.

Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.

Christopher J. Miller, M. Indelman, J. Uitto, 2003, The Journal of investigative dermatology.

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

M. Indelman, J. Uitto, R. Bergman, 2003, Archives of dermatology.

A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex.

M. Indelman, R. Bergman, E. Sprecher, 2005, The Journal of investigative dermatology.

Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations.

M. Indelman, R. Bergman, E. Sprecher, 2010, Journal of American Academy of Dermatology.

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

D. Geiger, M. Indelman, D. Bercovich, 2006, American journal of human genetics.

Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.

H. Mandel, A. Ishida-Yamamoto, M. Indelman, 2008, Archives of dermatology.

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.

M. Indelman, R. Bergman, E. Sprecher, 2004, The Journal of investigative dermatology.

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

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

Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.

O. Sarig, M. Indelman, R. Bergman, 2014, The Journal of investigative dermatology.

Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings

M. Indelman, R. Bergman, E. Sprecher, 2005, The British journal of dermatology.

Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.

M. Indelman, R. Bergman, G. Richard, 2003, The Journal of investigative dermatology.

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.

Mark George Thomas, N. Bradman, M. Indelman, 2008, The Journal of investigative dermatology.

Rapid detection of homozygous mutations in congenital recessive ichthyosis

J. Lugassy, H. Hennies, M. Indelman, 2008, Archives of Dermatological Research.

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

D. Behar, M. Indelman, R. Bergman, 2004, Nature Genetics.

Human amnion membrane as a substrate for the detection of autoantibodies in pemphigus vulgaris and bullous pemphigoid.

M. Indelman, R. Bergman, E. Sabo, 2014, The Israel Medical Association journal : IMAJ.

Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris.

S. Rosset, M. Nöthen, O. Sarig, 2012, The Journal of investigative dermatology.

Acrokeratosis Verruciformis of Hopf Showing P602L Mutation in ATP2A2 and Overlapping Histopathological Features With Darier Disease

M. Indelman, R. Bergman, E. Avitan-Hersh, 2012, The American Journal of dermatopathology.

Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23.

M. Indelman, R. Bergman, R. Shreter, 2014, The Journal of clinical endocrinology and metabolism.

Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.

M. Indelman, E. Sprecher, A. Zvulunov, 2007, American journal of human genetics.

Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.

D. Geiger, M. Indelman, R. Bergman, 2005 .

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

H. Mandel, M. Indelman, E. Sprecher, 2014, European journal of medical genetics.

Detection of a chromosomal region with two quantitative trait loci, affecting cold tolerance and fish size, in an F2 tilapia hybrid

Y. Kashi, M. Indelman, J. Weller, 2003 .

Acantholysis in Striate Keratoderma as a Clue to the Diagnosis of a Genetic Abnormality.

M. Indelman, R. Bergman, M. Nevet, 2015, American journal of dermatopathology.

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families

M. Nöthen, M. Indelman, R. Bergman, 2009, Archives of Dermatological Research.

A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy

M. Indelman, R. Bergman, E. Avitan-Hersh, 2012, International journal of dermatology.

A Novel Missense Mutation in CIAS1 Encoding the Pyrin-Like Protein, Cryopyrin, Causes Familial Cold Autoinflammatory Syndrome in a Family of Ethiopian Origin

M. Indelman, R. Bergman, E. Sprecher, 2007, International Archives of Allergy and Immunology.

The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12

O. Sarig, M. Indelman, R. Bergman, 2013, Experimental Dermatology.

A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.

H. Mandel, M. Indelman, R. Bergman, 2011, American journal of dermatopathology.

The histopathology and phenotypic variability in H syndrome

M. Indelman, R. Bergman, E. Avitan-Hersh, 2018, Clinical case reports.

Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome

O. Sarig, M. Indelman, R. Bergman, 2014, Dermatology.

A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course

M. Indelman, R. Bergman, J. Ben-Ari, 2017, International journal of dermatology.

Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations.

H. Hennies, M. Indelman, R. Bergman, 2006, Journal of the American Academy of Dermatology.

Epidermolytic Acanthoma of the Genitalia Does Not Show Mutations in KRT1 or KRT10.

M. Indelman, R. Bergman, E. Avitan-Hersh, 2016, The American Journal of dermatopathology.

Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy

M. Indelman, E. Sprecher, J. Eason, 2007, Clinical and experimental dermatology.

Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression.

P. Itin, M. Indelman, E. Sprecher, 2010, EJD. European journal of dermatology.

Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred

M. Indelman, E. Sprecher, J. Cooper, 2006 .

A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper‐IgE syndrome

M. Indelman, R. Bergman, E. Sprecher, 2006, Clinical and experimental dermatology.

A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy

M. Indelman, R. Bergman, E. Avitan-Hersh, 2012, International journal of dermatology.

Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23.

M. Indelman, R. Bergman, R. Shreter, 2014, The Journal of clinical endocrinology and metabolism.

Galli–Galli disease is an acantholytic variant of Dowling–Degos disease

J. Lugassy, M. Indelman, R. Bergman, 2007, The British journal of dermatology.

Acantholysis in Striate Keratoderma as a Clue to the Diagnosis of a Genetic Abnormality.

M. Indelman, R. Bergman, M. Nevet, 2015, The American Journal of dermatopathology.