-
1
-
-
57849125843
-
-
Online Mendelian Inheritance in Man, OMIM™ (2000). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). http://www.ncbi.nlm.nih.gov/omim/
-
Online Mendelian Inheritance in Man, OMIM™ (2000). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). http://www.ncbi.nlm.nih.gov/omim/
-
-
-
-
2
-
-
0023639987
-
Unknown syndrome: Abnormal facies, congenital heart defects, hypothyroidism, and severe retardation
-
Young ID, Simpson K. Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation. J Med Genet 1987; 24: 715-716.
-
(1987)
J Med Genet
, vol.24
, pp. 715-716
-
-
Young, I.D.1
Simpson, K.2
-
3
-
-
0023787682
-
Unknown syndrome: Abnormal facies, hypothyroidism, and severe retardation: a second patient
-
Fryns JP, Moerman P. Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient. J Med Genet 1988; 25: 498-499.
-
(1988)
J Med Genet
, vol.25
, pp. 498-499
-
-
Fryns, J.P.1
Moerman, P.2
-
4
-
-
0024331451
-
Unknown syndrome: Abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient
-
Cavalcanti DP. Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient. J Med Genet 1989; 26: 785-786.
-
(1989)
J Med Genet
, vol.26
, pp. 785-786
-
-
Cavalcanti, D.P.1
-
5
-
-
0027523098
-
Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome)
-
Bonthron DT, Barlow KM, Burt AM, Barr DG. Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). J Med Genet 1993; 30: 255-256.
-
(1993)
J Med Genet
, vol.30
, pp. 255-256
-
-
Bonthron, D.T.1
Barlow, K.M.2
Burt, A.M.3
Barr, D.G.4
-
6
-
-
0030826414
-
A Japanese boy with Young-Simpson syndrome
-
Nakamura T, Noma S. A Japanese boy with Young-Simpson syndrome. Acta Paediatr Jpn 1997; 39: 472-474.
-
(1997)
Acta Paediatr Jpn
, vol.39
, pp. 472-474
-
-
Nakamura, T.1
Noma, S.2
-
7
-
-
0033531958
-
Young-Simpson syndrome: Further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation
-
Masuno M, Imaizumi K, Okada T, Adachi M, Nishimura G, Ishii T, Tachibana K, Kuroki Y. Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. Am J Med Genet 1999; 84: 8-11.
-
(1999)
Am J Med Genet
, vol.84
, pp. 8-11
-
-
Masuno, M.1
Imaizumi, K.2
Okada, T.3
Adachi, M.4
Nishimura, G.5
Ishii, T.6
Tachibana, K.7
Kuroki, Y.8
-
8
-
-
0033988664
-
Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis
-
Kondoh T, Kinoshita E, Moriuchi H, Niikawa N, Matsumoto T, Masuno M. Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis. Am J Med Genet 2000; 90: 85-86.
-
(2000)
Am J Med Genet
, vol.90
, pp. 85-86
-
-
Kondoh, T.1
Kinoshita, E.2
Moriuchi, H.3
Niikawa, N.4
Matsumoto, T.5
Masuno, M.6
-
9
-
-
0033918237
-
A boy with mental retardation, blepharophimosis and hypothyroidism: A diagnostic dilemma between Young-Simpson and Ohdo syndrome
-
Marques-de-Faria AP, Maciel-Guerra AT, Junior GG, Baptista MT. A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome. Clin Dysmorphol 2000; 9: 199-204.
-
(2000)
Clin Dysmorphol
, vol.9
, pp. 199-204
-
-
Marques-de-Faria, A.P.1
Maciel-Guerra, A.T.2
Junior, G.G.3
Baptista, M.T.4
-
10
-
-
33744810053
-
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive
-
Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: a proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet 2006; 140; 1285-1296.
-
(2006)
Am J Med Genet
, vol.140
, pp. 1285-1296
-
-
Verloes, A.1
Bremond-Gignac, D.2
Isidor, B.3
David, A.4
Baumann, C.5
Leroy, M.A.6
Stevens, R.7
Gillerot, Y.8
Héron, D.9
Héron, B.10
Benzacken, B.11
Lacombe, D.12
Brunner, H.13
Bitoun, P.14
-
11
-
-
0028946924
-
Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p
-
Moncla A, Philip N, Mattei JF. Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p. J Med Genet 1995; 32: 245-246.
-
(1995)
J Med Genet
, vol.32
, pp. 245-246
-
-
Moncla, A.1
Philip, N.2
Mattei, J.F.3
-
12
-
-
0022447212
-
Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
-
Ohdo S, Madokoro H, Sonoda T, Hayakawa K. Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. J Med Genet 1986; 23: 242-244.
-
(1986)
J Med Genet
, vol.23
, pp. 242-244
-
-
Ohdo, S.1
Madokoro, H.2
Sonoda, T.3
Hayakawa, K.4
-
13
-
-
0024555045
-
Congenital hypothyroidism, spiky hair, and cleft palate
-
Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS. Congenital hypothyroidism, spiky hair, and cleft palate. J Med Genet 1989; 26: 49-51.
-
(1989)
J Med Genet
, vol.26
, pp. 49-51
-
-
Bamforth, J.S.1
Hughes, I.A.2
Lazarus, J.H.3
Weaver, C.M.4
Harper, P.S.5
-
14
-
-
0027245989
-
Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism
-
Buntincx IM, Van Overmeire B, Desager K, Van Hauwaert J. Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. J Med Genet 1993; 30: 427-428.
-
(1993)
J Med Genet
, vol.30
, pp. 427-428
-
-
Buntincx, I.M.1
Van Overmeire, B.2
Desager, K.3
Van Hauwaert, J.4
-
15
-
-
0021063838
-
Dermoid cysts, hypothyroidism, cleft palate and hypodontia
-
Zadik Z, Barak Y, Levin S, Josephsberg Z, Lustmann J, Chemke J. Dermoid cysts, hypothyroidism, cleft palate and hypodontia. J Clin Dysmorphol 1983; 1: 24-27.
-
(1983)
J Clin Dysmorphol
, vol.1
, pp. 24-27
-
-
Zadik, Z.1
Barak, Y.2
Levin, S.3
Josephsberg, Z.4
Lustmann, J.5
Chemke, J.6
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