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Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome: A Case ReportRAMOT, Yuval; CZARNOWICKI, Tali; MALY, Alex et al.Pediatric dermatology. 2011, Vol 28, Num 5, pp 538-541, issn 0736-8046, 4 p.Article

Clinical and molecular diagnostic criteria of congenital atrichia with papular lesionsZLOTOGORSKI, Abraham; PANTELEYEV, Andrei A; AITA, Vincent M et al.Journal of investigative dermatology. 2002, Vol 118, Num 5, pp 887-890, issn 0022-202XArticle

A Case of H Syndrome Showing Immunophenotye Similarities to Rosai-Dorfman DiseaseAVITAN-HERSH, Emily; MANDEL, Hanna; INDELMAN, Margarita et al.The American journal of dermatopathology. 2011, Vol 33, Num 1, pp 47-51, issn 0193-1091, 5 p.Article

Clinical and pathologic correlations in genetically distinct forms of atrichiaZLOTOGORSKI, Abraham; HOCHBERG, Ze'Ev; MIRMIRANI, Paradi et al.Archives of dermatology (1960). 2003, Vol 139, Num 12, pp 1591-1596, issn 0003-987X, 6 p.Article

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3MOLHO-PESSACH, Vered; LERER, Israela; ABELIOVICH, Dvorah et al.American journal of human genetics. 2008, Vol 83, Num 4, pp 529-534, issn 0002-9297, 6 p.Article

The H syndrome : A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestationsMOLHO-PESSACH, Vered; AGHA, Ziad; ELPELEG, Orly et al.Journal of the American Academy of Dermatology. 2008, Vol 59, Num 1, pp 79-85, issn 0190-9622, 7 p.Article

Novel and Recurrent FERMT1 Gene Mutations in Kindler SyndromeTECHANUKUL, Tanasit; SETHURAMAN, Gomathy; MCGRATH, John A et al.Acta dermato-venereologica. 2011, Vol 91, Num 3, pp 267-270, issn 0001-5555, 4 p.Article

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomataCHUANG, Gary S; MARTINEZ-MIR, Amalia; CID, Manuel Prieto et al.Journal of the American Academy of Dermatology. 2005, Vol 52, Num 3, pp 410-416, issn 0190-9622, 7 p.Article

De novo mutations in monilethrixHOREV, Liran; DJABALI, Karima; GREEN, Jack et al.Experimental dermatology. 2003, Vol 12, Num 6, pp 882-885, issn 0906-6705, 4 p.Article

Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomataMARTINEZ-MIR, Amalia; GLASER, Benjamin; CHRISTIANO, Angela M et al.Journal of investigative dermatology. 2003, Vol 121, Num 4, pp 741-744, issn 0022-202X, 4 p.Article

Multiple cutaneous and uterine leiomyomas: Refinement of the genetic locus for multiple cutaneous and uterine leiomyomas on chromosome 1q42.3-43MARTINEZ-MIR, Amalia; GORDON, Derek; HOREV, Liran et al.Journal of investigative dermatology. 2002, Vol 118, Num 5, pp 876-880, issn 0022-202XArticle

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa VasculopathyELKAN, Paulina Navon; PIERCE, Sarah B; VOTH, Isabel et al.The New England journal of medicine. 2014, Vol 370, Num 10, pp 921-931, issn 0028-4793, 11 p.Article

H Syndrome: Recently Defined Genodermatosis With Distinct Histologic Features. A Morphological, Histochemical, Immunohistochemical, and Ultrastructural Study of 10 CasesDOVINER, Victoria; MALY, Alexander; NE'EMAN, Zvi et al.The American journal of dermatopathology. 2010, Vol 32, Num 2, pp 118-128, issn 0193-1091, 11 p.Article

Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hairHOREV, Liran; TOSTI, Antonella; ROSEN, Irit et al.Journal of the American Academy of Dermatology. 2009, Vol 61, Num 5, pp 813-818, issn 0190-9622, 6 p.Article

Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areataMARTINEZ-MIR, Amalia; ZLOTOGORSKI, Abraham; NANOVA, Krassimira et al.American journal of human genetics. 2007, Vol 80, Num 2, pp 316-328, issn 0002-9297, 13 p.Article

Phenotypic variability among adult siblings with sjogren-larsson syndromeLOSSOS, Alexander; KHOURY, Moona; RIZZO, William B et al.Archives of neurology (Chicago). 2006, Vol 63, Num 2, pp 278-280, issn 0003-9942, 3 p.Article

Evidence for pseudodominant inheritance of atrichia with papular lesionsZLOTOGORSKI, Abraham; MARTINEZ-MIR, Amalia; GREEN, Jack et al.Journal of investigative dermatology. 2002, Vol 118, Num 5, pp 881-886, issn 0022-202XArticle