-
1
-
-
10644242758
-
Acquired localized cutis laxa confined to the face: Case report and review of the literature
-
Riveros CJ, Gavilan MF, Franca LF et al. Acquired localized cutis laxa confined to the face: case report and review of the literature. Int J Dermatol 2004 43 : 931 935.
-
(2004)
Int J Dermatol
, vol.43
, pp. 931-935
-
-
Riveros, C.J.1
Gavilan, M.F.2
Franca, L.F.3
-
2
-
-
0033783405
-
Genetic disorders of the elastic fiber system
-
Milewicz DM, Urban Z, Boyd C. Genetic disorders of the elastic fiber system. Matrix Biol 2000 19 : 471 480.
-
(2000)
Matrix Biol
, vol.19
, pp. 471-480
-
-
Milewicz, D.M.1
Urban, Z.2
Boyd, C.3
-
3
-
-
0015354918
-
The dominant and recessive forms of cutis laxa
-
Beighton P. The dominant and recessive forms of cutis laxa. J Med Genet 1972 9 : 216 221.
-
(1972)
J Med Genet
, vol.9
, pp. 216-221
-
-
Beighton, P.1
-
4
-
-
0019146148
-
A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin
-
Marchase P, Holbrook K, Pinnell S. A familial cutis laxa syndrome with ultrastructural abnormalities of collagen and elastin. J Invest Dermatol 1980 75 : 399 403.
-
(1980)
J Invest Dermatol
, vol.75
, pp. 399-403
-
-
Marchase, P.1
Holbrook, K.2
Pinnell, S.3
-
5
-
-
0018144254
-
Cutis laxa (generalized elastolysis): A report of 4 cases with autopsy findings
-
Mehregan AH, Lee SC, Nabai H. Cutis laxa (generalized elastolysis): a report of 4 cases with autopsy findings. J Cutan Pathol 1978 5 : 116 126.
-
(1978)
J Cutan Pathol
, vol.5
, pp. 116-126
-
-
Mehregan, A.H.1
Lee, S.C.2
Nabai, H.3
-
6
-
-
0020604513
-
Cutis laxa: Congenital form with pulmonary emphysema and ultrastructural study
-
Ledoux-Corbusier M. Cutis laxa: congenital form with pulmonary emphysema and ultrastructural study. J Cutan Pathol 1983 10 : 340 349.
-
(1983)
J Cutan Pathol
, vol.10
, pp. 340-349
-
-
Ledoux-Corbusier, M.1
-
7
-
-
0028144305
-
Male with type II autosomal recessive cutis laxa
-
Imaizumi K, Kurosawa K, Makita Y et al. Male with type II autosomal recessive cutis laxa. Clin Genet 1994 45 : 40 43.
-
(1994)
Clin Genet
, vol.45
, pp. 40-43
-
-
Imaizumi, K.1
Kurosawa, K.2
Makita, Y.3
-
9
-
-
3142680443
-
Hypothyroidism in siblings due to a homozygous mutation of the TSH-beta subunit gene
-
Review.
-
Felner EI, Dickson BA, White PC. Hypothyroidism in siblings due to a homozygous mutation of the TSH-beta subunit gene. J Pediatr Endocrinol Metab 2004 17 : 669 672. Review.
-
(2004)
J Pediatr Endocrinol Metab
, vol.17
, pp. 669-672
-
-
Felner, E.I.1
Dickson, B.A.2
White, P.C.3
-
10
-
-
0034067867
-
Genetic aspects of central hypothyroidism
-
Review.
-
Collu R. Genetic aspects of central hypothyroidism. J Endocrinol Invest 2000 23 : 125 134. Review.
-
(2000)
J Endocrinol Invest
, vol.23
, pp. 125-134
-
-
Collu, R.1
-
11
-
-
0032580483
-
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure
-
Devriendt K, Vanhole C, Matthijs G et al. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 1998 338 : 1317 1318.
-
(1998)
N Engl J Med
, vol.338
, pp. 1317-1318
-
-
Devriendt, K.1
Vanhole, C.2
Matthijs, G.3
-
12
-
-
0025007363
-
Assignment of the human thyroid stimulating hormone receptor (TSHR) gene to chromosome 14q31
-
Rousseau-Merck MF, Misrahi M, Loosfelt H et al. Assignment of the human thyroid stimulating hormone receptor (TSHR) gene to chromosome 14q31. Genomics 1990 8 : 233 236.
-
(1990)
Genomics
, vol.8
, pp. 233-236
-
-
Rousseau-Merck, M.F.1
Misrahi, M.2
Loosfelt, H.3
-
13
-
-
0031159748
-
Thyrotropin receptor transcripts in human adipose tissue
-
et al.
-
Crisp MS, Lane C, Halliwell M, et al. Thyrotropin receptor transcripts in human adipose tissue. J Clin Endocrinol Metab 1997 82 : 2003 2005.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 2003-2005
-
-
Crisp, M.S.1
Lane, C.2
Halliwell, M.3
-
14
-
-
0035099852
-
The expression of thyrotropin receptor in the brain
-
Crisanti P, Omri B, Hughes E et al. The expression of thyrotropin receptor in the brain. Endocrinology 2001 142 : 812 822.
-
(2001)
Endocrinology
, vol.142
, pp. 812-822
-
-
Crisanti, P.1
Omri, B.2
Hughes, E.3
-
15
-
-
5444221907
-
Genetic disorders influencing lung formation and function at birth
-
Review.
-
Whitsett JA, Wert SE, Trapnell BC. Genetic disorders influencing lung formation and function at birth. Hum Mol Genet 2004 13 : 207 215. Review.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 207-215
-
-
Whitsett, J.A.1
Wert, S.E.2
Trapnell, B.C.3
-
16
-
-
0036713921
-
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
-
Loeys B, Van Maldergem L, Mortier G et al. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet 2002 11 : 2113 2118.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2113-2118
-
-
Loeys, B.1
Van Maldergem, L.2
Mortier, G.3
-
17
-
-
0033837870
-
Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
-
Iwatani N, Mabe H, Devriendt K et al. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000 137 : 272 276.
-
(2000)
J Pediatr
, vol.137
, pp. 272-276
-
-
Iwatani, N.1
Mabe, H.2
Devriendt, K.3
|