-
1
-
-
0017175222
-
A syndrome manifested by brittle hair with morphological and biochemical abnormalities, developmental delay and normal stature
-
Arbisser, A. I., C. I. Scott, R. R. Howell, P. S. Ong, H. L. Cox: A syndrome manifested by brittle hair with morphological and biochemical abnormalities, developmental delay and normal stature Birth Defects 12 (1976) 219-228
-
(1976)
Birth Defects
, vol.12
, pp. 219-228
-
-
Arbisser, A.I.1
Scott, C.I.2
Howell, R.R.3
Ong, P.S.4
Cox, H.L.5
-
2
-
-
0017181136
-
The physicochemical properties of hair in BIDS syndrome
-
Baden, H. P., C. E. Jackson, L. Weiss, K. Jimbow, L. Lee, J. Kubilis, R. J. M. Gold: The physicochemical properties of hair in BIDS syndrome. Am. J. Hum. Genet 28 (1976) 514-521
-
(1976)
Am. J. Hum. Genet
, vol.28
, pp. 514-521
-
-
Baden, H.P.1
Jackson, C.E.2
Weiss, L.3
Jimbow, K.4
Lee, L.5
Kubilis, J.6
Gold, R.J.M.7
-
3
-
-
0026345657
-
Tay or IBIDS syndrome
-
Blomquist, H. K., O. Bäck, M. Fagerlund, G. Holmgren, C. Stecksen-Blicks: Tay or IBIDS syndrome. Acta Paediatr. Scand. 80 (1991) 1241-1245
-
(1991)
Acta Paediatr. Scand.
, vol.80
, pp. 1241-1245
-
-
Blomquist, H.K.1
Bäck, O.2
Fagerlund, M.3
Holmgren, G.4
Stecksen-Blicks, C.5
-
4
-
-
0023906258
-
The trichothiodystrophy syndrome of Pollitt
-
Chapman, S.: The trichothiodystrophy syndrome of Pollitt. Pediatr. Radiol 18 (1988) 154-156
-
(1988)
Pediatr. Radiol
, vol.18
, pp. 154-156
-
-
Chapman, S.1
-
5
-
-
84996082943
-
Hair analysis in trichothiodystrophy to distinguish primary and secondary features
-
de Berker, D., J. Tomlie, R. P. R. Drawber: Hair analysis in trichothiodystrophy to distinguish primary and secondary features. Br. J. Dermatol. 125 (Suppl. 38) (1991) 88
-
(1991)
Br. J. Dermatol.
, vol.125
, Issue.38 SUPPL.
, pp. 88
-
-
De Berker, D.1
Tomlie, J.2
Drawber, R.P.R.3
-
6
-
-
0021334260
-
The Tay syndrome (congenital ichthyosis with trichothiodystrophy)
-
Happle, R., H. Taube, H. Grobe, G. Bonsmann: The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur. J. Pediatr. 141 (1984) 147-152
-
(1984)
Eur. J. Pediatr.
, vol.141
, pp. 147-152
-
-
Happle, R.1
Taube, H.2
Grobe, H.3
Bonsmann, G.4
-
7
-
-
0018344921
-
Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation
-
Hernandez, A., F. Olivares, J. M. Cantu: Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation. Clin. Genet. 15 (1979) 147-152
-
(1979)
Clin. Genet.
, vol.15
, pp. 147-152
-
-
Hernandez, A.1
Olivares, F.2
Cantu, J.M.3
-
8
-
-
0019790212
-
The Sabinas syndrome
-
Howell, R. R., A. I. Arbisser, D. S. Parsons, C. I. Scott, U. Fraustadt, W. R. Collie, R. N. Marshall, O. C. Ibarra: The Sabinas syndrome. Am. J. Hum. Genet 33 (1988) 957-967
-
(1988)
Am. J. Hum. Genet
, vol.33
, pp. 957-967
-
-
Howell, R.R.1
Arbisser, A.I.2
Parsons, D.S.3
Scott, C.I.4
Fraustadt, U.5
Collie, W.R.6
Marshall, R.N.7
Ibarra, O.C.8
-
9
-
-
0025276699
-
Trichothiodystrophy: Review of sulfurdeficient brittle hair syndromes and association with the ectodermal dysplasia
-
Itin, P. H., M. R. Pittelkow: Trichothiodystrophy: review of sulfurdeficient brittle hair syndromes and association with the ectodermal dysplasia. J Am. Acad Dermatol. 22 (1990) 705-717
-
(1990)
J Am. Acad Dermatol.
, vol.22
, pp. 705-717
-
-
Itin, P.H.1
Pittelkow, M.R.2
-
10
-
-
0016096616
-
"Brittle" hair with short stature, intellectual impairment and decreased fertility An autosomal recessive syndrome in an Amish kindred
-
Jackson, R. T., L. Weiss, J H. Watson: "Brittle" hair with short stature, intellectual impairment and decreased fertility An autosomal recessive syndrome in an Amish kindred. Pediatrics 54 (1974) 201-207
-
(1974)
Pediatrics
, vol.54
, pp. 201-207
-
-
Jackson, R.T.1
Weiss, L.2
Watson, J.H.3
-
11
-
-
0026547088
-
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrom and trichothiodystrophy
-
Johnson, R. T., S. Squires: The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrom and trichothiodystrophy Mutat. Res. 273 (1992) 97-118
-
(1992)
Mutat. Res.
, vol.273
, pp. 97-118
-
-
Johnson, R.T.1
Squires, S.2
-
12
-
-
85047693152
-
Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome)
-
Jorizzo, J. L., D. J. A. Atherton, R. G. Crounce, R. S. Wells: Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome). Br. J. Dermatol. 106 (1982) 705-710
-
(1982)
Br. J. Dermatol.
, vol.106
, pp. 705-710
-
-
Jorizzo, J.L.1
Atherton, D.J.A.2
Crounce, R.G.3
Wells, R.S.4
-
13
-
-
0026029336
-
Collodion baby, sign of Tay syndrome
-
Kouseff, B. G.: Collodion baby, sign of Tay syndrome. Pediatrics 87 (1991) 571-574
-
(1991)
Pediatrics
, vol.87
, pp. 571-574
-
-
Kouseff, B.G.1
-
15
-
-
0026627902
-
MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S
-
Peserico, A., P. A. Battistella, P. Bertoli: MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S. Neuroradiology 24 (1992) 316-317
-
(1992)
Neuroradiology
, vol.24
, pp. 316-317
-
-
Peserico, A.1
Battistella, P.A.2
Bertoli, P.3
-
16
-
-
0014275038
-
Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of hair
-
Pollitt, R. J., F. A. Jenner, M. Davies: Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of hair. Arch. Dis. Child 43 (1968) 211-221
-
(1968)
Arch. Dis. Child
, vol.43
, pp. 211-221
-
-
Pollitt, R.J.1
Jenner, F.A.2
Davies, M.3
-
17
-
-
0026619397
-
Trichothiodystrophy: Update
-
Price, V. H.: Trichothiodystrophy: Update. Pediatr. Dermatol. 9 (1992) 369-370
-
(1992)
Pediatr. Dermatol.
, vol.9
, pp. 369-370
-
-
Price, V.H.1
-
18
-
-
0019245621
-
Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex
-
Price, V. H., R. B. Odom, W. H. Ward, F. T. Jones: Trichothiodystrophy. Sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch. Dermatol. 116 (1980) 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
-
19
-
-
0025350954
-
Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Maroccan siblings
-
Przedborski, S., A. Ferster, S. Goldman, R. Wolter, M. Song, T. Tonnesen, R. J. Pollitt, E. Vamos: Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Maroccan siblings. Am. J. Med. Genet. 35 (1990) 566-573
-
(1990)
Am. J. Med. Genet.
, vol.35
, pp. 566-573
-
-
Przedborski, S.1
Ferster, A.2
Goldman, S.3
Wolter, R.4
Song, M.5
Tonnesen, T.6
Pollitt, R.J.7
Vamos, E.8
-
20
-
-
0023217384
-
PIBIDS syndrome - Trichothiodystrophy with xeroderma pigmentosum (group D) mutation
-
Rebora, A., F. Crovato: PIBIDS syndrome - Trichothiodystrophy with xeroderma pigmentosum (group D) mutation. J. Am. Acad. Dermatol. 16 (1987) 940-947
-
(1987)
J. Am. Acad. Dermatol.
, vol.16
, pp. 940-947
-
-
Rebora, A.1
Crovato, F.2
-
21
-
-
0023840854
-
Trichothiodystrophy, xeroderma and PIBIDS syndrome
-
Rebora, A., F. Crovato: Trichothiodystrophy, xeroderma and PIBIDS syndrome. Hum. Genet. 78 (1998) 106-108
-
(1998)
Hum. Genet.
, vol.78
, pp. 106-108
-
-
Rebora, A.1
Crovato, F.2
-
22
-
-
0026684841
-
Trichothiodystrophy: Report of a new case with severe nervous system involvement
-
Rizzo, R., L Pavone, G. Micali, S. Calvieri, L. Di Gregorio: Trichothiodystrophy: Report of a new case with severe nervous system involvement. J. Child. Neurol. 7 (1992) 300-303
-
(1992)
J. Child. Neurol.
, vol.7
, pp. 300-303
-
-
Rizzo, R.1
Pavone, L.2
Micali, G.3
Calvieri, S.4
Di Gregorio, L.5
-
23
-
-
0022868911
-
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity
-
Steffanini, M., P. Lagomarsini, C. F. Arlett, S. Marinom, C. Borrone, F. Crovato, C. Trevisan, G. Cordone, F. Nuzzo: Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Hum. Genet. 74 (1986) 107-112
-
(1986)
Hum. Genet.
, vol.74
, pp. 107-112
-
-
Steffanini, M.1
Lagomarsini, P.2
Arlett, C.F.3
Marinom, S.4
Borrone, C.5
Crovato, F.6
Trevisan, C.7
Cordone, G.8
Nuzzo, F.9
-
24
-
-
0030051768
-
Defects in the DNA repair and transcription gene ERCC 2 (XPD) in trichothiodystrophy
-
Takayama, K., E. P. Salazar, B. C. Broughton, A. R. Lehmann, A. Sarasin, L. H. Thompson, C. A. Weber: Defects in the DNA repair and transcription gene ERCC 2 (XPD) in trichothiodystrophy. Am. J. Human. Genet. 58 (1996) 263-270
-
(1996)
Am. J. Human. Genet.
, vol.58
, pp. 263-270
-
-
Takayama, K.1
Salazar, E.P.2
Broughton, B.C.3
Lehmann, A.R.4
Sarasin, A.5
Thompson, L.H.6
Weber, C.A.7
-
25
-
-
0015087003
-
Ichthyosiform erythroderma, hair shaft abnormalities and mental and growth retardation. A new recessive disorder
-
Tay, C. H.: Ichthyosiform erythroderma, hair shaft abnormalities and mental and growth retardation. A new recessive disorder. Arch. Dermatol. 104 (1971) 4-13
-
(1971)
Arch. Dermatol.
, vol.104
, pp. 4-13
-
-
Tay, C.H.1
-
26
-
-
0028343749
-
Syndromes associated with trichothiodystrophy
-
Tolmie, J. L., D. de Berker, R. Dawber, C. Galloway, D. W. Gregory, A. R. Lehmann, J. McClure, R. J. Pollitt, J. B. P. Stephenson. Syndromes associated with trichothiodystrophy Clinical Dysmorphology 3 (1994) 1-14
-
(1994)
Clinical Dysmorphology
, vol.3
, pp. 1-14
-
-
Tolmie, J.L.1
De Berker, D.2
Dawber, R.3
Galloway, C.4
Gregory, D.W.5
Lehmann, A.R.6
McClure, J.7
Pollitt, R.J.8
Stephenson, J.B.P.9
-
27
-
-
0022621595
-
Weathering of hair in trichothiodystrophy
-
Venning, V. A., R. P. R. Dawber, D. J. P. Ferguson, M. W. Kanan: Weathering of hair in trichothiodystrophy. Br. J Dermatol. 114 (1986) 591-595
-
(1986)
Br. J Dermatol.
, vol.114
, pp. 591-595
-
-
Venning, V.A.1
Dawber, R.P.R.2
Ferguson, D.J.P.3
Kanan, M.W.4
|