|1|Axonal excitability in X-linked dominant Charcot Marie Tooth disease. (24290847)
Liang C.... Ng K.
|2|X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother. (23859418)
Gill H.K.... Murad S.
|3|Residual NADPH oxidase activity and isolated lung involvement in x-linked chronic granulomatous disease. (23193493)
Gutierrez M.J.... Nino G.
|4|X-linked Charcot-Marie-Tooth disease. (23279425)
Scherer S.S.... Kleopa K.A.
|5|Diffusion tensor imaging and magnetic resonance spectroscopy of transient cerebral white matter lesions in X-linked Charcot-Marie-Tooth disease. (22341131)
Sato K.... Kuriyama M.
|6|Langerhans cell histiocytosis, a new clinical phenotype of x-linked lymphoproliferative disease? (21094704)
Zhang X.... Feng Z.
|7|A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot-Marie-Tooth disease. (20857133)
Sakaguchi H.... Uchino M.
|8|Oxidase-deficient neutrophils from X-linked chronic granulomatous disease iPS cells: functional correction by zinc finger nuclease-mediated safe harbor targeting. (21411759)
Zou J.... Malech H.L.
|9|X-linked chronic granulomatous disease with voriconazole-induced photosensitivity/ photoaging reaction. (20480802)
Frisch S.... Burkemper C.N.
|10|Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease. (20472869)
Rosser T.... Boles R.G.
|11|Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets. (20644117)
Hislop A.D.... Rickinson A.B.
|12|Rituximab for lymphoproliferative disease prior to haematopoietic stem cell transplantation for X-linked severe combined immunodeficiency. (16732583)
Trahair T.N.... Russell S.J.
|13|Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis. (18277931)
Lee P.P.... Lau Y.L.
|14|From gene to disease; X-linked adrenoleukodystrophy]. (18491823)
Engelen M.... van Geel B.M.
|15|Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile. (18846643)
Riveiro-Alvarez R.... Ayuso C.
|16|Severe X-linked chronic granulomatous disease in two unrelated females. (17089090)
Chollet-Martin S.... GAcrard B.
|17|Epstein-Barr virus-induced hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease: a mimicker of sepsis in the pediatric intensive care unit. (17403820)
Mischler M.... Cornell T.T.
|18|The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease]. (17646144)
Song S.J.... Zhong N.
|19|Sepsis caused by Veillonella parvula infection in a 17-year-old patient with X-linked agammaglobulinemia (Bruton's disease). (16825407)
Strach M.... Grodzicki T.
|20|Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. (16582916)
Ott M.G.... Grez M.
|21|Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease. (16272055)
Eksandh L.... Abrahamson M.
|22|Gene symbol: RS1. Disease: X-linked juvenile retinoschisis. (16521243)
Riveiro R.... Ayuso C.
|23|Long polymerase chain reaction-based fluorescence in situ hybridization analysis of female carriers of X-linked chronic granulomatous disease deletions. (15858141)
Simon K.C.... Blancato J.K.
|24|Association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections. (14978696)
Agudelo-FlA^rez P.... Condino-Neto A.
|25|X-linked chronic granulomatous disease: report of one case. (15493736)
Weng J.D.... Shyur S.D.
|26|Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system. (14691999)
Chien S.C.... Hsieh F.J.
|27|von Recklinghausen disease in a patient with X-linked agammaglobulinemia. (12487187)
Hirata D.... Minota S.
|28|Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency. (12447665)
Soresina A.... Plebani A.
|29|Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1). (11393532)
Matsuyama W.... Osame M.
|30|Large-scale analysis of sequence tags in Xp11.4-11.3 and evaluation of candidate genes for X-linked ocular diseases. (14564067)
|31|Lymphocytic vasculitis in X-linked lymphoproliferative disease. (11133747)
Dutz J.P.... Tan R.
|32|X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. (10934222)
Parolini S.... Moretta A.
|33|Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease. (10089913)
Roesler J.... Roesen-Wolff A.
|34|Mutations in the RP2 gene cause disease in 10% of families with familial X-Linked retinitis pigmentosa assessed in this study. (10090907)
Hardcastle A.J.... Bhattacharya S.
|35|X-linked Charcot-Marie-Tooth disease and connexin32. (10873293)
|36|X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. (9566397)
Birouk N.... Bouche P.
|37|Identification of (CA/GT)n polymorphisms within the X-linked chronic granulomatous disease (X-CGD) gene: utility for prenatal diagnosis. (9544160)
|38|Connexin32 and X-linked Charcot-Marie-Tooth disease. (9361298)
Bone L.J.... Scherer S.S.
|39|X-linked agammaglobulinemia (XLA): a genetic tyrosine kinase (Btk) disease. (8885720)
Mattsson P.T.... Smith C.I.
|40|X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients. (8636252)
Laureti S.... Brunetti P.
|41|A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease. (7756659)
Azuma H.... Okuno A.
|42|Characterization of three overlapping deletions causing X-linked lymphoproliferative disease. (8387453)
Skare J.... Nitowsky H.
|43|X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox. (8400270)
Porter C.D.... Kinnon C.
|44|Menkes disease: an X-linked neurological disorder of the copper metabolism. (1341968)
Horn N.... TA1mer Z.
|45|The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. (3600768)
Dinauer M.C.... Parkos C.A.
|46|DNA probes and carriers of X-linked disease. (6128523)
|47|Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance. (610422)
Scriver C.R.... Nogrady B.
|48|Stability of AMP:pyrophosphate phosphoribosyltransferase, an autosomally determined enzyme in an X-linked disease. Identification of a destabilizer. (4652560)
Rubin C.S.... Balis M.E.
|49|Lyon hypothesis and x-linked disease. (4170678)
|50|Biochemical diagnosis of an X-linked disease in utero. (4174524)
Fujimoto W.Y.... Jacobson C.B.