-
1
-
-
45049088360
-
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations
-
Molho-Pessach V., Agha Z., Aamar S., Glaser B., Doviner V., Hiller N., Zangen D.H., Raas-Rothschild A., Ben-Neriah Z., Shweiki S., Elpeleg O., Zlotogorski A. The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol 2008, 59:79-85.
-
(2008)
J Am Acad Dermatol
, vol.59
, pp. 79-85
-
-
Molho-Pessach, V.1
Agha, Z.2
Aamar, S.3
Glaser, B.4
Doviner, V.5
Hiller, N.6
Zangen, D.H.7
Raas-Rothschild, A.8
Ben-Neriah, Z.9
Shweiki, S.10
Elpeleg, O.11
Zlotogorski, A.12
-
2
-
-
53249090469
-
The H syndrome is caused by mutations in the nucleoside transporter hENT3
-
Molho-Pessach V., Lerer I., Abeliovich D., Agha Z., Abu Libdeh A., Broshtilova V., Elpeleg O., Zlotogorski A. The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet 2008, 83:529-534.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 529-534
-
-
Molho-Pessach, V.1
Lerer, I.2
Abeliovich, D.3
Agha, Z.4
Abu Libdeh, A.5
Broshtilova, V.6
Elpeleg, O.7
Zlotogorski, A.8
-
3
-
-
18144403118
-
Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes
-
Baldwin S.A., Yao S.Y., Hyde R.J., Ng A.M., Foppolo S., Barnes K., Ritzel M.W., Cass C.E., Young J.D. Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes. J Biol Chem 2005, 280:15880-15887.
-
(2005)
J Biol Chem
, vol.280
, pp. 15880-15887
-
-
Baldwin, S.A.1
Yao, S.Y.2
Hyde, R.J.3
Ng, A.M.4
Foppolo, S.5
Barnes, K.6
Ritzel, M.W.7
Cass, C.E.8
Young, J.D.9
-
4
-
-
66149097607
-
Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3
-
Govindarajan R., Leung G.P., Zhou M., Tse C.M., Wang J., Unadkat J.D. Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3. Am J Physiol Gastrointest Liver Physiol 2009, 296:G910-G922.
-
(2009)
Am J Physiol Gastrointest Liver Physiol
, vol.296
-
-
Govindarajan, R.1
Leung, G.P.2
Zhou, M.3
Tse, C.M.4
Wang, J.5
Unadkat, J.D.6
-
5
-
-
70350757661
-
Diabetes mellitus may be the earliest and sole manifestation of the H syndrome
-
Broshtilova V., Ramot Y., Molho-Pessach V., Zlotogorski A. Diabetes mellitus may be the earliest and sole manifestation of the H syndrome. Diabet Med 2009, 26:1179-1180.
-
(2009)
Diabet Med
, vol.26
, pp. 1179-1180
-
-
Broshtilova, V.1
Ramot, Y.2
Molho-Pessach, V.3
Zlotogorski, A.4
-
6
-
-
77949996722
-
H syndrome: recently defined genodermatosis with distinct histologic features. A morphological, histochemical, immunohistochemical, and ultrastructural study of 10 cases
-
Doviner V., Maly A., Ne'eman Z., Qawasmi R., Aamar S., Sultan M., Spiegel M., Molho-Pessach V., Zlotogorski A. H syndrome: recently defined genodermatosis with distinct histologic features. A morphological, histochemical, immunohistochemical, and ultrastructural study of 10 cases. Am J Dermatopathol 2010, 32:118-128.
-
(2010)
Am J Dermatopathol
, vol.32
, pp. 118-128
-
-
Doviner, V.1
Maly, A.2
Ne'eman, Z.3
Qawasmi, R.4
Aamar, S.5
Sultan, M.6
Spiegel, M.7
Molho-Pessach, V.8
Zlotogorski, A.9
-
7
-
-
70149106348
-
Hyperpigmented, hypertrichotic, and sclerodermoid plaques: an unusual variant of Muckle-Wells syndrome
-
El-Darouti M.A. Hyperpigmented, hypertrichotic, and sclerodermoid plaques: an unusual variant of Muckle-Wells syndrome. J Am Acad Dermatol 2009, 61:725-727.
-
(2009)
J Am Acad Dermatol
, vol.61
, pp. 725-727
-
-
El-Darouti, M.A.1
-
8
-
-
33644768091
-
Muckle-Wells syndrome: report of six cases with hyperpigmented sclerodermoid skin lesions
-
El-Darouti M.A., Marzouk S.A., Abdel-Halim M.R. Muckle-Wells syndrome: report of six cases with hyperpigmented sclerodermoid skin lesions. Int J Dermatol 2006, 45:239-244.
-
(2006)
Int J Dermatol
, vol.45
, pp. 239-244
-
-
El-Darouti, M.A.1
Marzouk, S.A.2
Abdel-Halim, M.R.3
-
10
-
-
33646067415
-
Autosomal recessive plasma cell panniculitis with morphea-like clinical manifestation
-
Hamadah I.R., Banka N. Autosomal recessive plasma cell panniculitis with morphea-like clinical manifestation. J Am Acad Dermatol 2006, 54:S189-S191.
-
(2006)
J Am Acad Dermatol
, vol.54
-
-
Hamadah, I.R.1
Banka, N.2
-
11
-
-
65449136684
-
Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome
-
Hussain K., Padidela R., Kapoor R.R., James C., Banerjee K., Harper J., Wilson L.C., Hennekam R.C. Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome. Pediatr Diabetes 2009, 10:193-197.
-
(2009)
Pediatr Diabetes
, vol.10
, pp. 193-197
-
-
Hussain, K.1
Padidela, R.2
Kapoor, R.R.3
James, C.4
Banerjee, K.5
Harper, J.6
Wilson, L.C.7
Hennekam, R.C.8
-
12
-
-
23844490947
-
Sinus histiocytosis with massive lymphadenopathy in three brothers
-
Kismet E., Koseoglu V., Atay A.A., Deveci S., Demirkaya E., Tuncer K. Sinus histiocytosis with massive lymphadenopathy in three brothers. Pediatr Int 2005, 47:473-476.
-
(2005)
Pediatr Int
, vol.47
, pp. 473-476
-
-
Kismet, E.1
Koseoglu, V.2
Atay, A.A.3
Deveci, S.4
Demirkaya, E.5
Tuncer, K.6
-
14
-
-
72149122083
-
The H syndrome: two novel mutations affecting the same amino acid residue of hENT3
-
Molho-Pessach V., Suarez J., Perrin C., Chiaverini C., Doviner V., Tristan-Clavijo E., Colmenero I., Giuliano F., Torrelo A., Zlotogorski A. The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. J Dermatol Sci 2010, 57:59-61.
-
(2010)
J Dermatol Sci
, vol.57
, pp. 59-61
-
-
Molho-Pessach, V.1
Suarez, J.2
Perrin, C.3
Chiaverini, C.4
Doviner, V.5
Tristan-Clavijo, E.6
Colmenero, I.7
Giuliano, F.8
Torrelo, A.9
Zlotogorski, A.10
-
15
-
-
0031971651
-
Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness
-
Moynihan L.M., Bundey S.E., Heath D., Jones E.L., McHale D.P., Mueller R.F., Markham A.F., Lench N.J. Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. Am J Hum Genet 1998, 62:1123-1128.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1123-1128
-
-
Moynihan, L.M.1
Bundey, S.E.2
Heath, D.3
Jones, E.L.4
McHale, D.P.5
Mueller, R.F.6
Markham, A.F.7
Lench, N.J.8
-
16
-
-
33947686755
-
Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?
-
Prendiville J., Rogers M., Kan A., de Castro F., Wong M., Junker A., Becknell C., Schultz K. Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?. Pediatr Dermatol 2007, 24:101-107.
-
(2007)
Pediatr Dermatol
, vol.24
, pp. 101-107
-
-
Prendiville, J.1
Rogers, M.2
Kan, A.3
de Castro, F.4
Wong, M.5
Junker, A.6
Becknell, C.7
Schultz, K.8
-
17
-
-
77951249610
-
H-syndrome: novel and recurrent mutations in SLC29A3
-
Priya T.P., Philip N., Molho-Pessach V., Busa T., Dalal A., Zlotogorski A. H-syndrome: novel and recurrent mutations in SLC29A3. Br J Dermatol 2010, 162:1132-1134.
-
(2010)
Br J Dermatol
, vol.162
, pp. 1132-1134
-
-
Priya, T.P.1
Philip, N.2
Molho-Pessach, V.3
Busa, T.4
Dalal, A.5
Zlotogorski, A.6
-
18
-
-
79952019796
-
Early-onset sensorineural hearing loss is a prominent feature of H syndrome
-
Ramot Y., Sayama K., Sheffer R., Doviner V., Hiller N., Kaufmann-Yehezkely M., Zlotogorski A. Early-onset sensorineural hearing loss is a prominent feature of H syndrome. Int J Pediatr Otorhinolaryngol 2010, 74:825-827.
-
(2010)
Int J Pediatr Otorhinolaryngol
, vol.74
, pp. 825-827
-
-
Ramot, Y.1
Sayama, K.2
Sheffer, R.3
Doviner, V.4
Hiller, N.5
Kaufmann-Yehezkely, M.6
Zlotogorski, A.7
-
19
-
-
33748507099
-
Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness
-
Rossbach H.C., Dalence C., Wynn T., Tebbi C. Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness. Pediatr Blood Cancer 2006, 47:629-632.
-
(2006)
Pediatr Blood Cancer
, vol.47
, pp. 629-632
-
-
Rossbach, H.C.1
Dalence, C.2
Wynn, T.3
Tebbi, C.4
-
20
-
-
0025838287
-
Morphea profunda
-
Sayama K., Chen M., Shiraishi S., Miki Y. Morphea profunda. Int J Dermatol 1991, 30:873-875.
-
(1991)
Int J Dermatol
, vol.30
, pp. 873-875
-
-
Sayama, K.1
Chen, M.2
Shiraishi, S.3
Miki, Y.4
-
21
-
-
77956897104
-
Expanding the clinical spectrum of SLC29A3 gene defects
-
Spiegel R., Cliffe S.T., Buckley M.F., Crow Y.J., Urquhart J., Horovitz Y., Tenenbaum-Rakover Y., Newman W.G., Donnai D., Shalev S.A. Expanding the clinical spectrum of SLC29A3 gene defects. Eur J Med Genet 2010, 53:309-313.
-
(2010)
Eur J Med Genet
, vol.53
, pp. 309-313
-
-
Spiegel, R.1
Cliffe, S.T.2
Buckley, M.F.3
Crow, Y.J.4
Urquhart, J.5
Horovitz, Y.6
Tenenbaum-Rakover, Y.7
Newman, W.G.8
Donnai, D.9
Shalev, S.A.10
-
22
-
-
63449090583
-
Plasma cell panniculitis: a histopathological variant of morphea profunda
-
Tomb R., Soutou B., Chehadi S. Plasma cell panniculitis: a histopathological variant of morphea profunda. Ann Dermatol Venereol 2009, 136:256-259.
-
(2009)
Ann Dermatol Venereol
, vol.136
, pp. 256-259
-
-
Tomb, R.1
Soutou, B.2
Chehadi, S.3
-
23
-
-
84875256964
-
Acquired progressive lymphangioma
-
Tschen J.A., Martinelli P.T., Cohen P.R., Chang P., Siekavizza J.L., Tschen J.A. Acquired progressive lymphangioma. Dermatol Cosmet Med y Chirurg 2009, 7:49-53.
-
(2009)
Dermatol Cosmet Med y Chirurg
, vol.7
, pp. 49-53
-
-
Tschen, J.A.1
Martinelli, P.T.2
Cohen, P.R.3
Chang, P.4
Siekavizza, J.L.5
Tschen, J.A.6
-
24
-
-
66149099643
-
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway
-
Cliffe S.T., Kramer J.M., Hussain K., Robben J.H., de Jong E.K., de Brouwer A.P., Nibbeling E., Kamsteeg E.J., Wong M., Prendiville J., James C., Padidela R., Becknell C., van Bokhoven H., Deen P.M., Hennekam R.C., Lindeman R., Schenck A., Roscioli T., Buckley M.F. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet 2009, 18:2257-2265.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2257-2265
-
-
Cliffe, S.T.1
Kramer, J.M.2
Hussain, K.3
Robben, J.H.4
de Jong, E.K.5
de Brouwer, A.P.6
Nibbeling, E.7
Kamsteeg, E.J.8
Wong, M.9
Prendiville, J.10
James, C.11
Padidela, R.12
Becknell, C.13
van Bokhoven, H.14
Deen, P.M.15
Hennekam, R.C.16
Lindeman, R.17
Schenck, A.18
Roscioli, T.19
Buckley, M.F.20
more..
-
25
-
-
77649196563
-
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease
-
Morgan N.V., Morris M.R., Cangul H., Gleeson D., Straatman-Iwanowska A., Davies N., Keenan S., Pasha S., Rahman F., Gentle D., Vreeswijk M.P., Devilee P., Knowles M.A., Ceylaner S., Trembath R.C., Dalence C., Kismet E., Koseoglu V., Rossbach H.C., Gissen P., Tannahill D., Maher E.R. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genet 2010, 6:e1000833.
-
(2010)
PLoS Genet
, vol.6
-
-
Morgan, N.V.1
Morris, M.R.2
Cangul, H.3
Gleeson, D.4
Straatman-Iwanowska, A.5
Davies, N.6
Keenan, S.7
Pasha, S.8
Rahman, F.9
Gentle, D.10
Vreeswijk, M.P.11
Devilee, P.12
Knowles, M.A.13
Ceylaner, S.14
Trembath, R.C.15
Dalence, C.16
Kismet, E.17
Koseoglu, V.18
Rossbach, H.C.19
Gissen, P.20
Tannahill, D.21
Maher, E.R.22
more..
-
26
-
-
37549034290
-
MRI findings in deep and generalized morphea (localized scleroderma)
-
Horger M., Fierlbeck G., Kuemmerle-Deschner J., Tzaribachev N., Wehrmann M., Claussen C.D., Fritz J. MRI findings in deep and generalized morphea (localized scleroderma). AJR Am J Roentgenol 2008, 190:32-39.
-
(2008)
AJR Am J Roentgenol
, vol.190
, pp. 32-39
-
-
Horger, M.1
Fierlbeck, G.2
Kuemmerle-Deschner, J.3
Tzaribachev, N.4
Wehrmann, M.5
Claussen, C.D.6
Fritz, J.7
-
28
-
-
0021066297
-
Anomalies of the intrinsic muscles in camptodactyly
-
McFarlane R.M., Curry G.I., Evans H.B. Anomalies of the intrinsic muscles in camptodactyly. J Hand Surg Am 1983, 8:531-544.
-
(1983)
J Hand Surg Am
, vol.8
, pp. 531-544
-
-
McFarlane, R.M.1
Curry, G.I.2
Evans, H.B.3
-
29
-
-
0032460893
-
Camptodactyly: a unifying theory and approach to surgical treatment
-
Smith P.J., Grobbelaar A.O. Camptodactyly: a unifying theory and approach to surgical treatment. J Hand Surg Am 1998, 23:14-19.
-
(1998)
J Hand Surg Am
, vol.23
, pp. 14-19
-
-
Smith, P.J.1
Grobbelaar, A.O.2
|