-
1
-
-
0028114846
-
A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects
-
Paige DG, Emilion GG, Bouloux PM, Harper JI (1994) A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects. Br J Dermatol 131:622-629
-
(1994)
Br. J. Dermatol.
, vol.131
, pp. 622-629
-
-
Paige, D.G.1
Emilion, G.G.2
Bouloux, P.M.3
Harper, J.I.4
-
3
-
-
0033857993
-
Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy
-
Gohlke BC, Haug K, Fukami M, Friedl W, Noeker M, Rappold GA, Haverkamp F (2000) Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. J Med Genet 37:600-602
-
(2000)
J. Med. Genet.
, vol.37
, pp. 600-602
-
-
Gohlke, B.C.1
Haug, K.2
Fukami, M.3
Friedl, W.4
Noeker, M.5
Rappold, G.A.6
Haverkamp, F.7
-
5
-
-
0028817683
-
Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
-
Russell L, DiGiovanna J, Rogers G, Steinert P, Hashem N, Compton J, Bale S (1995) Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. Nat Genet 9:279-283
-
(1995)
Nat. Genet.
, vol.9
, pp. 279-283
-
-
Russell, L.1
DiGiovanna, J.2
Rogers, G.3
Steinert, P.4
Hashem, N.5
Compton, J.6
Bale, S.7
-
6
-
-
0039004404
-
Cholesterol 3-sulfate interferes with cornified envelope assembly by diverting transglutaminase 1 activity from the formation of cross-links and esters to the hydrolysis of glutamine
-
Nemes Z, Demeny M, Marekov LN, Fesus L, Steinert PM (2000) Cholesterol 3-sulfate interferes with cornified envelope assembly by diverting transglutaminase 1 activity from the formation of cross-links and esters to the hydrolysis of glutamine. J Biol Chem 275:2636-2646
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 2636-2646
-
-
Nemes, Z.1
Demeny, M.2
Marekov, L.N.3
Fesus, L.4
Steinert, P.M.5
-
7
-
-
0028866985
-
X-linked ichthyosis without STS deficiency: Clinical, genetical, and molecular studies
-
Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, Siniscalco M, Filippi G (1995) X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies. Am J Med Genet 59:143-148
-
(1995)
Am. J. Med. Genet.
, vol.59
, pp. 143-148
-
-
Robledo, R.1
Melis, P.2
Schillinger, E.3
Casciano, I.4
Balazs, I.5
Rinaldi, A.6
Siniscalco, M.7
Filippi, G.8
-
8
-
-
8944250665
-
Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: A nationwide study of Btk deficiency in Japan
-
Hashimoto S, Tsukada S, Matsushita M, Miyawaki T, Niida Y, Yachie A, Kobayashi S, Iwata T, Hayakawa H, Matsuoka H, Tsuge I, Yamadori T, Kunikata T, Arai S, Yoshizaki K, Taniguchi N, Kishimoto T (1996) Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan. Blood 88:561-573
-
(1996)
Blood
, vol.88
, pp. 561-573
-
-
Hashimoto, S.1
Tsukada, S.2
Matsushita, M.3
Miyawaki, T.4
Niida, Y.5
Yachie, A.6
Kobayashi, S.7
Iwata, T.8
Hayakawa, H.9
Matsuoka, H.10
Tsuge, I.11
Yamadori, T.12
Kunikata, T.13
Arai, S.14
Yoshizaki, K.15
Taniguchi, N.16
Kishimoto, T.17
-
9
-
-
0014325199
-
Hereditary renal disease with neurosensory hearing loss, prolinuria and ichthyosis
-
Goyer RA, Reynolds J Jr, Burke J, Burkholder P (1968) Hereditary renal disease with neurosensory hearing loss, prolinuria and ichthyosis. Am J Med Sci 256:166-179
-
(1968)
Am. J. Med. Sci.
, vol.256
, pp. 166-179
-
-
Goyer, R.A.1
Reynolds J., Jr.2
Burke, J.3
Burkholder, P.4
-
10
-
-
0017840772
-
Familial ichthyosis, dwarfism, mental retardation, and renal disease
-
Rayner A, Lampert RP, Rennert OM (1978) Familial ichthyosis, dwarfism, mental retardation, and renal disease. J Pediatr 92:766-768
-
(1978)
J. Pediatr.
, vol.92
, pp. 766-768
-
-
Rayner, A.1
Lampert, R.P.2
Rennert, O.M.3
-
11
-
-
0025184450
-
Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea - A new syndrome
-
Deal JE, Barratt TM, Dillon MJ (1990) Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea - a new syndrome. Pediatr Nephrol 4:308-313
-
(1990)
Pediatr. Nephrol.
, vol.4
, pp. 308-313
-
-
Deal, J.E.1
Barratt, T.M.2
Dillon, M.J.3
-
12
-
-
0030869688
-
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: Private and recurrent mutations in an isolated population
-
Laiho E, Ignatius J, Mikkola H, Yee VC, Teller DC, Niemi KM, Saarialho-Kere U, Kere J, Palotie A (1997) Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. Am J Hum Genet 61:529-538
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 529-538
-
-
Laiho, E.1
Ignatius, J.2
Mikkola, H.3
Yee, V.C.4
Teller, D.C.5
Niemi, K.M.6
Saarialho-Kere, U.7
Kere, J.8
Palotie, A.9
-
13
-
-
0031026172
-
Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis syndrome (ARCI)
-
Franceschini P, Barberis L (1997) Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis syndrome (ARCI). Eur J Pediatr 156:78
-
(1997)
Eur. J. Pediatr.
, vol.156
, pp. 78
-
-
Franceschini, P.1
Barberis, L.2
-
14
-
-
0033996863
-
Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: Case report and review of the literature
-
Denecke J, Zimmer KP, Kleta R, Koch HG, Rabe H, August C, Harms E (2000) [Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature]. Klin Padiatr 212:77-80
-
(2000)
Klin. Padiatr.
, vol.212
, pp. 77-80
-
-
Denecke, J.1
Zimmer, K.P.2
Kleta, R.3
Koch, H.G.4
Rabe, H.5
August, C.6
Harms, E.7
-
15
-
-
0021342076
-
Acquired ichthyosis: A marker for internal disease
-
Schwartz RA, Williams ML (1984) Acquired ichthyosis: a marker for internal disease. Am Fam Physician 29:181-184
-
(1984)
Am. Fam. Physician
, vol.29
, pp. 181-184
-
-
Schwartz, R.A.1
Williams, M.L.2
-
16
-
-
0025230634
-
Keratitis, ichthyosis, and deafness (KID) syndrome with adult onset of keratitis component
-
McGrae JD Jr (1990) Keratitis, ichthyosis, and deafness (KID) syndrome with adult onset of keratitis component. Int J Dermatol 29:145-146
-
(1990)
Int. J. Dermatol.
, vol.29
, pp. 145-146
-
-
McGrae J.D., Jr.1
-
17
-
-
0024527636
-
Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels
-
Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA, et al. (1989) Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics 4:36-40
-
(1989)
Genomics
, vol.4
, pp. 36-40
-
-
Ballabio, A.1
Carrozzo, R.2
Parenti, G.3
Gil, A.4
Zollo, M.5
Persico, M.G.6
Gillard, E.7
Affara, N.8
Yates, J.9
Ferguson-Smith, M.A.10
-
18
-
-
0009462761
-
Molecular studies of deletions at the human steroid sulfatase locus
-
Shapiro LJ, Yen P, Pomerantz D, Martin E, Rolewic L, Mohandas T (1989) Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci USA 86:8477-8481
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 8477-8481
-
-
Shapiro, L.J.1
Yen, P.2
Pomerantz, D.3
Martin, E.4
Rolewic, L.5
Mohandas, T.6
-
19
-
-
0028818051
-
A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction
-
Nomura K, Nakano H, Umeki K, Harada K, Kon A, Tamai K, Sawamura D, Hashimoto I (1995) A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction. Acta Derm Venereol 75:340-342
-
(1995)
Acta Derm. Venereol.
, vol.75
, pp. 340-342
-
-
Nomura, K.1
Nakano, H.2
Umeki, K.3
Harada, K.4
Kon, A.5
Tamai, K.6
Sawamura, D.7
Hashimoto, I.8
-
20
-
-
0030753202
-
Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein
-
Alperin ES, Shapiro LJ (1997) Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. J Biol Chem 272:20756-20763
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 20756-20763
-
-
Alperin, E.S.1
Shapiro, L.J.2
-
21
-
-
0033995677
-
Deletion patterns of the STS gene and flanking sequences in Israeli X- linked ichthyosis patients and carriers: Analysis by polymerase chain reaction and fluorescence in situ hybridization techniques
-
Aviram-Goldring A, Goldman B, Netanelov-Shapira I, Chen-Shtoyerman R, Zvulunov A, Tal O, Ilan T, Peleg L (2000) Deletion patterns of the STS gene and flanking sequences in Israeli X- linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol 39:182-187
-
(2000)
Int. J. Dermatol.
, vol.39
, pp. 182-187
-
-
Aviram-Goldring, A.1
Goldman, B.2
Netanelov-Shapira, I.3
Chen-Shtoyerman, R.4
Zvulunov, A.5
Tal, O.6
Ilan, T.7
Peleg, L.8
-
24
-
-
0000433739
-
Minimal change nephrotic syndrome and focal segmental glomerulosclerosis
-
Holliday MA, Barratt TM, Avner ED (eds) Williams and Wilkins, USA
-
Clark AG, Barratt TM (1994) Minimal change nephrotic syndrome and focal segmental glomerulosclerosis. In: Holliday MA, Barratt TM, Avner ED (eds) Pediatric nephrology. Williams and Wilkins, USA, p 767
-
(1994)
Pediatric Nephrology
, pp. 767
-
-
Clark, A.G.1
Barratt, T.M.2
-
25
-
-
0033607637
-
Transglutaminase type 1 and its cross-linking activity are concentrated at adherens junctions in simple epithelial cells
-
Hiiragi T, Sasaki H, Nagafuchi A, Sabe H, Shen SC, Matsuki M, Yamanishi K, Tsukita S (1999) Transglutaminase type 1 and its cross-linking activity are concentrated at adherens junctions in simple epithelial cells. J Biol Chem 274:34148-34154
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 34148-34154
-
-
Hiiragi, T.1
Sasaki, H.2
Nagafuchi, A.3
Sabe, H.4
Shen, S.C.5
Matsuki, M.6
Yamanishi, K.7
Tsukita, S.8
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