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Margarita Indelman

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Publications

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Tomer Goldsmith; Margarita Indelman; Shirli Israeli; Reuven Bergman; Dana Fuchs-Telem; Gilly Padalon-Brauch; Ofer Sarig; Eli Sprecher; Janna Nousbeck
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.
Reuven Bergman; Wissam Abo Helou; Margarita Indelman; Tanya Sezin; Emily Avitan-Hersh
Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease.
Ofer Sarig; Enno Schmidt; Karl Skorecki; Henri Trau; Detlef Zillikens; Lilach Zoller; Aviv Barzilai; Sharon Baum; Sivan Bercovici; Reuven Bergman; Ariel Darvasi; Dan Geiger; Ilan Goldberg; Michael Hertl; Saleh M Ibrahim; Margarita Indelman; Shirli Israeli; Oren Katz; Helena Martinez de Morentin; Dedee F Murrell; Sagi Nahum; Markus M Nöthen; Shai Rosenberg; Saharon Rosset; Nadav Sagiv; Eli Sprecher
Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris.

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All Publications

2013: Tomer Goldsmith; Margarita Indelman; Shirli Israeli; Reuven Bergman; Dana Fuchs-Telem; Gilly Padalon-Brauch; Ofer Sarig; Eli Sprecher; Janna Nousbeck
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.
Experimental dermatology 2013;22(4):251-4.
2012: Reuven Bergman; Wissam Abo Helou; Margarita Indelman; Tanya Sezin; Emily Avitan-Hersh
Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease.
The American Journal of dermatopathology 2012;34(6):597-601.
2012: Ofer Sarig; Enno Schmidt; Karl Skorecki; Henri Trau; Detlef Zillikens; Lilach Zoller; Aviv Barzilai; Sharon Baum; Sivan Bercovici; Reuven Bergman; Ariel Darvasi; Dan Geiger; Ilan Goldberg; Michael Hertl; Saleh M Ibrahim; Margarita Indelman; Shirli Israeli; Oren Katz; Helena Martinez de Morentin; Dedee F Murrell; Sagi Nahum; Markus M Nöthen; Shai Rosenberg; Saharon Rosset; Nadav Sagiv; Eli Sprecher
Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris.
The Journal of investigative dermatology 2012;132(7):1798-805.
2012: Emily Avitan-Hersh; Margarita Indelman; Ziad Khamaysi; Rina Leibu; Reuven Bergman
A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy.
International journal of dermatology 2012;51(3):325-7.
2012: R Bergman; N Haim; O Ben-Izhak; Margarita Indelman; A Mercer; E Sprecher; L Zoller; D Hershkovitz
KID syndrome: histopathological, immunohistochemical and molecular analysis of precancerous and cancerous skin lesions.
The British journal of dermatology 2012;166(2):455-7.
2011: Alan Yancovitch; Eli Sprecher; Margo Whiteford; Peter Galloway; Dov Hershkovitz; Margarita Indelman; Esra Kılıç
Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis.
Journal of bone and mineral metabolism 2011;29(5):621-5.
2011: Emily Avitan-Hersh; Hanna Mandel; Margarita Indelman; Gad Bar-Joseph; Abraham Zlotogorski; Reuven Bergman
A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.
The American Journal of dermatopathology 2011;33(1):47-51.
2010: Emily Avitan-Hersh; Margarita Indelman; Reuven Bergman; Eli Sprecher
ADULT syndrome caused by a mutation previously associated with EEC syndrome.
Pediatric dermatology 2010;27(6):643-5.
2010: Bettina Burger; Dov Hershkovitz; Margarita Indelman; Michal Kovac; Jörg Galambos; Peter Haeusermann; Eli Sprecher; Peter H Itin
Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression.
European journal of dermatology : EJD 2010;20(6):693-7.
2010: Janna Nousbeck; Ofer Sarig; Nili Avidan; Margarita Indelman; Reuven Bergman; Michal Ramon; Claes D Enk; Eli Sprecher
Insulin-like growth factor-binding protein 7 regulates keratinocyte proliferation, differentiation and apoptosis.
The Journal of investigative dermatology 2010;130(2):378-87.
2010: Reuven Bergman; Dov Hershkovitz; Dana Fuchs; Margarita Indelman; Yael Gadot; Eli Sprecher
Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations.
Journal of the American Academy of Dermatology 2010;62(1):107-13.
2009: Sagi Nahum; Sandra M Pasternack; Jana Pforr; Margarita Indelman; Bernd Wollnik; Reuven Bergman; Markus M Nöthen; Arne König; Ziad Khamaysi; Regina C Betz; Eli Sprecher
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
Archives of dermatological research 2009;301(5):391-3.
2009: D Hershkovitz; J Lugassy; Margarita Indelman; Reuven Bergman; Eli Sprecher
Novel mutations in DSG1 causing striate palmoplantar keratoderma.
Clinical and experimental dermatology 2009;34(2):224-8.
2009: Faysal Gok; Ilana Chefetz; Margarita Indelman; Murat Kocaoglu; Eli Sprecher
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome.
Acta orthopaedica 2009;80(1):131-4.
2008: Ilana Chefetz; Danny Ben Amitai; Sarah Browning; Karl Skorecki; Noam Adir; Mark Thomas; Larissa Kogleck; Orit Topaz; Margarita Indelman; Jouni Uitto; Gabriele Richard; Neil Bradman; Eli Sprecher
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
The Journal of investigative dermatology 2008;128(6):1423-9.
2008: Janna Nousbeck; Ronen Spiegel; Akemi Ishida-Yamamoto; Margarita Indelman; Ayelet Shani-Adir; Noam Adir; Ehud Lipkin; Sivan Bercovici; Dan Geiger; Maurice A M van Steensel; Peter M Steijlen; Reuven Bergman; Albrecht Bindereif; Mordechai Choder; Stavit Shalev; Eli Sprecher
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
American journal of human genetics 2008;82(5):1114-21.
2008: Dov Hershkovitz; Hanna Mandel; Akemi Ishida-Yamamoto; Ilana Chefetz; Bayan Hino; Anthony Luder; Margarita Indelman; Reuven Bergman; Eli Sprecher
Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.
Archives of dermatology 2008;144(3):334-40.
2008: Jennie Lugassy; Hans Christian Hennies; Margarita Indelman; Ziad Khamaysi; Reuven Bergman; Eli Sprecher
Rapid detection of homozygous mutations in congenital recessive ichthyosis.
Archives of dermatological research 2008;300(2):81-5.
2008: Hanna Mandel; Revital Shemer; Zvi U Borochowitz; Marina Okopnik; Carlos Knopf; Margarita Indelman; Arie Drugan; Dov Tiosano; Ruth Gershoni-Baruch; Mordechai Choder; Eli Sprecher
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.
American journal of human genetics 2008;82(1):39-47.
2007: Ziad Khamaysi; Margarita Indelman; Reuven Bergman; E Sprecher
Familial palmoplantar keratoderma: not always hereditary.
Journal of the European Academy of Dermatology and Venereology : JEADV 2007;21(10):1437-8.
2007: Regina C Betz; Margarita Indelman; Jana Pforr; Felix Schreiner; Ralf Bauer; Reuven Bergman; Michael J Lentze; Markus M Nöthen; Sven Cichon; Eli Sprecher
Identification of mutations in the human hairless gene in two new families with congenital atrichia.
Archives of dermatological research 2007;299(3):157-61.
2007: Margarita Indelman; J Eason; M Hummel; O Loza; M Suri; M J Leys; M Bayne; F L Schwartz; Eli Sprecher
Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.
Clinical and experimental dermatology 2007;32(2):191-6.
2007: Eli Sprecher; Margarita Indelman; Ziad Khamaysi; J Lugassy; Danny Petronius; Reuven Bergman
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease.
The British journal of dermatology 2007;156(3):572-4.
2007: Lina Basel-Vanagaite; Revital Attia; Akemi Ishida-Yamamoto; Limor Rainshtein; Dan Ben-Amitai; raziel lurie; Metsada Pasmanik-Chor; Margarita Indelman; Alex Zvulunov; Shirley Saban; Nurit Magal; Eli Sprecher; Mordechai Shohat
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
American journal of human genetics 2007;80(3):467-77.
2007: Stavit A Shalev; Eli Sprecher; Margarita Indelman; Yasir Hujirat; Reuven Bergman; Menachem Rottem
A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.
International archives of allergy and immunology 2007;143(3):190-3.
2006: Orit Topaz; Margarita Indelman; Ilana Chefetz; Dan Geiger; Aryeh Metzker; Yoram Altschuler; Mordechai Choder; Dani Bercovich; Jouni Uitto; Reuven Bergman; Gabriele Richard; Eli Sprecher
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
American journal of human genetics 2006;79(4):759-64.
2006: Jennie Lugassy; Peter Itin; Akemi Ishida-Yamamoto; Kristen Holland; Susan Huson; Dan Geiger; Hans Christian Hennies; Margarita Indelman; Dani Bercovich; Jouni Uitto; Reuven Bergman; John A McGrath; Gabriele Richard; Eli Sprecher
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
American journal of human genetics 2006;79(4):724-30.
2006: Mordechai Mizrachi-Koren; Saar Shemer; Michal Morgan; Margarita Indelman; Ziad Khamaysi; Danny Petronius; Ora Bitterman-Deutsch; Hans Christian Hennies; Reuven Bergman; Eli Sprecher
Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations.
Journal of the American Academy of Dermatology 2006;55(3):393-401.
2006: Avikam Harel; Reuven Bergman; Margarita Indelman; Eli Sprecher
Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14.
The Journal of investigative dermatology 2006;126(7):1654-7.
2006: Judeh Abu Sa'd; Margarita Indelman; Ellen Pfendner; Tzipora C Falik-Zaccai; Mordechai Mizrachi-Koren; Stavit A Shalev; Dan Ben-Amitai; Annick Raas-Rothshild; Ayelet Adir-Shani; Zvi-Uri Borochowitz; Ruth Gershoni-Baruch; Morad Khayat; Daniela Landau; Gabriele Richard; Reuven Bergman; Jouni Uitto; Moien Kanaan; Eli Sprecher
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
The Journal of investigative dermatology 2006;126(4):777-81.
2006: Polina Specktor; John G Cooper; Margarita Indelman; Eli Sprecher
Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.
Journal of human genetics 2006;51(5):487-90.
2005: Ilana Chefetz; Raoul Heller; Assimina Galli-Tsinopoulou; Gabriele Richard; Bernd Wollnik; Margarita Indelman; Friederike Koerber; Orit Topaz; Reuven Bergman; Eli Sprecher; Eckhard Schoenau
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
Human genetics 2005;118(2):261-6.
2005: Margarita Indelman; Rina Leibu; A Jammal; Reuven Bergman; Eli Sprecher
Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.
The British journal of dermatology 2005;153(3):635-8.
2005: Mordechai Mizrachi-Koren; Dan Geiger; Margarita Indelman; Ora Bitterman-Deutsch; Reuven Bergman; Eli Sprecher
Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.
The Journal of investigative dermatology 2005;125(3):456-62.
2005: Eli Sprecher; Akemi Ishida-Yamamoto; Mordechai Mizrahi-Koren; Debora Rapaport; Dorit Goldsher; Margarita Indelman; Orit Topaz; Ilana Chefetz; Hanni Keren; Timothy J O'brien; Dani Bercovich; Stavit A Shalev; Dan Geiger; Reuven Bergman; Mia Horowitz; Hanna Mandel
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.
American journal of human genetics 2005;77(2):242-51.
2005: O Tal; Reuven Bergman; J Alcalay; Margarita Indelman; Eli Sprecher
Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.
Clinical and experimental dermatology 2005;30(1):64-7.
2005: Margarita Indelman; Reuven Bergman; Eli Sprecher
A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex.
The Journal of investigative dermatology 2005;124(1):272-4.
2004: Orit Topaz; Daniel L Shurman; Reuven Bergman; Margarita Indelman; Paulina Ratajczak; Mordechai Mizrachi; Ziad Khamaysi; Doron M Behar; Danny Petronius; Vered Friedman; Israel Zelikovic; Sharon Raimer; Aryeh Metzker; Gabriele Richard; Eli Sprecher
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
Nature genetics 2004;36(6):579-81.
2004: Izabella Klein; Reuven Bergman; Margarita Indelman; Eli Sprecher
A newborn presenting with congenital blistering.
International journal of dermatology 2004;43(4):295-7.
2004: Eli Sprecher; Vered Molho-Pessach; Arieh Ingber; Efraim Sagi; Margarita Indelman; Reuven Bergman
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.
The Journal of investigative dermatology 2004;122(3):647-51.
2003: Margarita Indelman; Christian P Hamel; Reuven Bergman; Ken K Nischal; Dorothy Thompson; Marie-Odile Surget; Michal Ramon; Hatam Ganthos; Benjamin Miller; Gabriele Richard; raziel lurie; Rina Leibu; Isabelle Russell-Eggitt; Eli Sprecher
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.
The Journal of investigative dermatology 2003;121(5):1217-20.
2003: Dan Ciubotaru; Reuven Bergman; David Baty; Margarita Indelman; Ellen Pfendner; Danny Petronius; Hannah Moualem; Moien Kanaan; Dan Ben-Amitai; W H Irwin McLean; Jouni Uitto; Eli Sprecher
Epidermolysis bullosa simplex in Israel: clinical and genetic features.
Archives of dermatology 2003;139(4):498-505.
2003: Eli Sprecher; Gil Yosipovitch; Reuven Bergman; Dan Ciubutaro; Margarita Indelman; Ellen Pfendner; Leok C Goh; Christopher J Miller; Jouni Uitto; Gabriele Richard
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
The Journal of investigative dermatology 2003;120(4):623-6.
2003: Margarita Indelman; Reuven Bergman; Gilles G Lestringant; G Peer; Eli Sprecher
Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions.
The British journal of dermatology 2003;148(3):553-7.
2002: Margarita Indelman; Reuven Bergman; raziel lurie; Gabriele Richard; Benjamin Miller; Danny Petronius; Dan Ciubutaro; Rina Leibu; Eli Sprecher
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.
The Journal of investigative dermatology 2002;119(5):1210-3.
2002: Izabella Klein; Reuven Bergman; Margarita Indelman; Eli Sprecher
A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia.
The Journal of investigative dermatology 2002;119(4):920-2.