|1|Rapid determination of chimerism status using dihydrorhodamine assay in a patient with X-linked chronic granulomatous disease following hematopoietic stem cell transplantation. (23826567)
Kim H.Y.... Kang E.S.
|2|The Central Nervous System Phenotype of X-Linked Charcot-Marie-Tooth Disease: A Transient Disorder of Children and Young Adults. (23400245)
Al-Mateen M.... Chance P.F.
|3|How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease? (22771394)
Kleopa K.A.... Scherer S.S.
|4|Autoimmunity in X-linked agammaglobulinemia: Kawasaki disease and review of the literature. (22288453)
Behniafard N.... Rezaei N.
|5|Cytotoxic T lymphocytes mediate neuronal injury in patients with X-linked agammaglobulinemia and progressive neurodegenerative disease. (21951217)
Tuzankina I.... MarA^di L.
|6|Two X-linked chronic granulomatous disease patients with unusual NADPH oxidase properties. (21604087)
Wolach B.... Roos D.
|7|An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma. (19906447)
Hervier B.... Hamidou M.
|8|Successful hematopoietic stem cell transplantation in 2 children with X-linked chronic granulomatous disease from their unaffected HLA-identical siblings selected using preimplantation genetic diagnosis combined with HLA typing. (19835970)
Goussetis E.... Graphakos S.
|9|Increased lymphocyte viability after non-stimulated peripheral blood mononuclear cell (PBMC) culture in patients with X-linked lymphoproliferative disease (XLP). (19576857)
Belmonte L.... de E de Bracco M.M.
|10|A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidus. (19729836)
Li J.H.... Wess J.
|11|Effect of splice-site mutations in X-linked chronic granulomatous disease. (20664714) |2009|
|12|Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP. (16720617)
Hare N.J.... Tangye S.G.
|13|Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family. (16620288)
KAPker M.Y.... Roos D.
|14|Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (16521245)
Riveiro R.... Ayuso C.
|15|Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease. (15538631)
Stasia M.J.... Morel F.
|16|The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implant. (15272897)
Vytopil M.... Lukas Z.
|17|Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease. (15006706)
Wang H.L.... Wu C.Y.
|18|X-linked Charcot-Marie-Tooth disease with myokymia: report of a family. (14652447)
Chakravarty A.... Mukhopadhyay S.
|19|Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease. (12185164)
Lee M.-J.... Reilly M.M.
|20|A new assay for the analysis of X-chromosome inactivation in carriers with an X-linked disease. (11738868)
|21|NTB-A, a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked Lymphoproliferative disease. (11489943)
Bottino C.... Moretta A.
|22|Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. (11438988)
Weller S.... GAortner J.
|23|Lupus erythematosus tumidus and chronic discoid lupus erythematosus in carriers of X-linked chronic granulomatous disease. (10725815)
Rupec R.A.... Messer G.
|24|Recurrent B-cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection. (10691868)
Strahm B.... Niemeyer C.M.
|25|A phenotype map of the mouse X chromosome: models for human X-linked disease. (10720569)
Boyd Y.... Reed V.
|26|Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease. (10646523)
Martin P.E.... Evans W.H.
|27|Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis. (10373326)
Tanaka K.... Craig I.W.
|28|Transient association of the nicotinamide adenine dinucleotide phosphate oxidase subunits p47phox and p67phox with phagosomes in neutrophils from patients with X-linked chronic granulomatous disease. (10233905)
Allen L.A.... Nauseef W.M.
|29|Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). (10556288)
Brandau O.... Meindl A.
|30|Transcription map of Xq27: candidates for several X-linked diseases. (10198160)
Zucchi I.... Mumm S.
|31|Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties. (9592087)
Ressot C.... Bruzzone R.
|32|The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. (9774102)
Sayos J.... Terhorst C.
|33|Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy. (8926495)
Tanaka F.... Mitsuma T.
|34|Nephrocalcinosis in X-linked hypophosphatemia: effect of treatment versus disease. (7794712)
Taylor A.... Norman M.E.
|35|New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. (7477983)
Bone L.J.... Fischbeck K.H.
|36|X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. (7795648)
Villa A.... Vezzoni P.
|37|Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). (8575751)
Fisher S.E.... Craig I.W.
|38|Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high- affinity IL-2 receptor binding. (8299698)
DiSanto J.P.... de Saint Basile G.
|39|X chromosome inactivation and the diagnosis of X linked disease in females. (8097254)
Brown R.M.... Brown G.K.
|40|Cytochrome b positive X-linked chronic granulomatous disease: a normal cell surface expression of cytochrome b. (1323464)
Azuma H.... Okuno A.
|41|New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. (2018058)
Pettigrew A.L.... Ledbetter D.H.
|42|Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity. (2299506)
Sitz K.V.... Steele R.W.
|43|Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome. (1976460)
Yang H.M.... Shen L.
|44|Discoid lupus erythematosus-like lesions in carriers of X-linked chronic granulomatous disease. (2354117)
Sillevis Smitt J.H.... Bos J.D.
|45|Comparison of direct and indirect methods of carrier detection in an X-linked disease. (1970704)
Koeberl D.D.... Sommer S.S.
|46|Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy. (2468817)
Small G.M.... Lazarow P.B.
|47|Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity. (3386829)
Naidu S.... Green W.R.
|48|An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. (7195507)
Haas R.H.... Dubowitz V.
|49|Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures. (7205900)
|50|X-linked ichthyosis: a metabolic disease. (160423)