-
1
-
-
0028091850
-
Trichothiodyslrophy: Clinical spectrum, central nervous system imaging and biochemical characterization of two siblings
-
Chen E. Cleaver JE. Weber CA. Packman S, Barkovich AJ. Koch TK. Williams ML, Golabi M. Price VH: Trichothiodyslrophy: Clinical spectrum, central nervous system imaging and biochemical characterization of two siblings. J Invest Dermatol 1994;103:154S-158S.
-
(1994)
J Invest Dermatol
, vol.103
, pp. 154S-158S
-
-
Chen, E.1
Cleaver, J.E.2
Weber, C.A.3
Packman, S.4
Barkovich, A.J.5
Koch, T.K.6
Williams, M.L.7
Golabi, M.8
Price, V.H.9
-
2
-
-
0025276699
-
Trichothiodyslrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
-
Itin PH. Pittelkow MR: Trichothiodyslrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias. J Am Acad Dermatol 1990:22: 705-717.
-
(1990)
J am Acad Dermatol
, vol.22
, pp. 705-717
-
-
Itin, P.H.1
Pittelkow, M.R.2
-
4
-
-
0020692904
-
A comparison of the proteins of normal and trichothiodystro-phic human hair
-
Gillespie JM, Marshall RC: A comparison of the proteins of normal and trichothiodystro-phic human hair. J Invest Dermatol 1983;80: 195-202.
-
(1983)
J Invest Dermatol
, vol.80
, pp. 195-202
-
-
Gillespie, J.M.1
Marshall, R.C.2
-
5
-
-
0026543076
-
DNA repair investigations in nine italian patients affected by trichothiodyslrophy
-
Stefanini M. Giliani S, Nardo T, Marinoni S, Nazzaro V. Rizzo R, Trevisan G: DNA repair investigations in nine italian patients affected by trichothiodyslrophy. Mutât Res 1992:273: 119-125.
-
(1992)
Mutât Res
, vol.273
, pp. 119-125
-
-
Stefanini, M.1
Giliani, S.2
Nardo, T.3
Marinoni, S.4
Nazzaro, V.5
Rizzo, R.6
Trevisan, G.7
-
6
-
-
0028358988
-
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy
-
Broughton BC. Steingrimsdottir H. Weber CA, Lehmann AR: Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. Nat Genet 1994:7:189-194.
-
(1994)
Nat Genet
, vol.7
, pp. 189-194
-
-
Broughton, B.C.1
Steingrimsdottir, H.2
Weber, C.A.3
Lehmann, A.R.4
-
8
-
-
0001783517
-
Amino acid analysis of physiological samples
-
Hommes FA (ed), A Laboratory Manual. New York. Wilcy-Liss
-
Slocum RH. Cummings JG: Amino acid analysis of physiological samples: in Hommes FA (ed): Technics in Diagnostic Human Biochemical Genetics. A Laboratory Manual. New York. Wilcy-Liss. 1991. pp 87-126.
-
(1991)
Technics in Diagnostic Human Biochemical Genetics
, pp. 87-126
-
-
Slocum, R.H.1
Cummings, J.G.2
-
9
-
-
0026627902
-
MRI of a very rare hereditary ectodermal dysplasia: PIB1(D)S
-
Peserico A. Battistella PA. Bertoli P: MRI of a very rare hereditary ectodermal dysplasia: PIB1(D)S. Neuroradiology 1992;34:316-317.
-
(1992)
Neuroradiology
, vol.34
, pp. 316-317
-
-
Peserico, A.1
Battistella, P.A.2
Bertoli, P.3
-
10
-
-
0028343749
-
Syndromes associated with trichothiodystrophy
-
Tolmie JL, de Bcrker D. Dawber R. Galloway C. Gregory DW. Lehmann AR. McClure J. Pol-litt RJ, Stephenson JB: Syndromes associated with trichothiodystrophy. Clin Dysmorphol 1994;3:1-14.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 1-14
-
-
Tolmie, J.L.1
De Bcrker, D.2
Dawber, R.3
Galloway, C.4
Gregory, D.W.5
Lehmann, A.R.6
Mc Clure, J.7
Pol-Litt, R.J.8
Stephenson, J.B.9
-
11
-
-
0019245621
-
Trichothiodystrophy. Sulfur deficient brittle hair as a marker for a neuroectodermal symptom complex
-
Price VH, Odom RB, Ward WH. Jones FT: Trichothiodystrophy. Sulfur deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol 1980:116: 1375-1384.
-
(1980)
Arch Dermatol
, vol.116
, pp. 1375-1384
-
-
Price, V.H.1
Odom, R.B.2
Ward, W.H.3
Jones, F.T.4
-
12
-
-
0004963296
-
Brittle hair, intellectual impairment, decreased fertility and short stature (BIDS) syndrome in three sibs (abstract)
-
Przedborski S, Ferster A, Song M. Tonnesen T, Kctelbant P. Vamos E: Brittle hair, intellectual impairment, decreased fertility and short stature (BIDS) syndrome in three sibs (abstract). J Neurol 1985;232(suppl):127.
-
(1985)
J Neurol
, vol.232
, pp. 127
-
-
Przedborski, S.1
Ferster, A.2
Song, M.3
Tonnesen, T.4
Kctelbant, P.5
Vamos, E.6
-
13
-
-
0014275038
-
Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair
-
Pollitl RJ. Jenner FA, Davies M: Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. Arch Dis Child 1968:43: 211-216.
-
(1968)
Arch Dis Child
, vol.43
, pp. 211-216
-
-
Pollitl, R.J.1
Jenner, F.A.2
Davies, M.3
-
14
-
-
0014802958
-
A congenital hair defect: Trichoschisis w ith alternating birefringence and low sulfur content
-
Brown AC. Bclser RB, Crounse RG, Wehr RF: A congenital hair defect: Trichoschisis w ith alternating birefringence and low sulfur content. J Invest Dennatol 1970;54:496-509.
-
(1970)
J Invest Dennatol
, vol.54
, pp. 496-509
-
-
Brown, A.C.1
Bclser, R.B.2
Crounse, R.G.3
Wehr, R.F.4
-
15
-
-
0002592296
-
Clinical symptoms associated with trichothiodystrophy: A review of the literature with special emphasis on light sensitivity and the association w ith xeroderma pigmentosum (complementation group D)
-
Van Neste D, Lachapelle JM, Antoine JL (eds), Dordrecht, Kluwer
-
Van Neste D, Miller X. Bohnert E: Clinical symptoms associated with trichothiodystrophy: A review of the literature with special emphasis on light sensitivity and the association w ith xeroderma pigmentosum (complementation group D): in Van Neste D, Lachapelle JM, Antoine JL (eds): Trends in Human Hair Growth and Alopecia Research. Dordrecht, Kluwer. 1989. pp 183-193
-
(1989)
Trends in Human Hair Growth and Alopecia Research
, pp. 183-193
-
-
Van Neste, D.1
Miller, X.2
Bohnert, E.3
|