-
1
-
-
0020312394
-
Tracheoesophageal fistula, protruding pinnae, proximal interphalangeal symphalangism of fifth finger. A new syndrome?
-
Blaichman S (1982). Tracheoesophageal fistula, protruding pinnae, proximal interphalangeal symphalangism of fifth finger. A new syndrome? Am J Med Genet 13(2):233-234.
-
(1982)
Am J Med Genet
, vol.13
, Issue.2
, pp. 233-234
-
-
Blaichman, S.1
-
2
-
-
0018163665
-
Peculiar faces with short philtrum, duck-bill lips, ptosis and low-set ears - A new syndrome?
-
Char F (1978). Peculiar faces with short philtrum, duck-bill lips, ptosis and low-set ears - a new syndrome? Birth Defects: Original Article Series XIV;6B:303-305.
-
(1978)
Birth Defects: Original Article Series XIV
, vol.6 B
, pp. 303-305
-
-
Char, F.1
-
3
-
-
0027215132
-
A large family with patent ductus arteriosus and unusual face
-
Davidson HR (1992). A large family with patent ductus arteriosus and unusual face. J Med Genet 30:503-505.
-
(1992)
J Med Genet
, vol.30
, pp. 503-505
-
-
Davidson, H.R.1
-
4
-
-
0032726394
-
Familial patent ductus arteriosus and bicuspid aortic valve with hand abnormalities: A novel hand-heart syndrome
-
Gelb BD, Zhang J, Sommer RJ, Wasserman JM, Reitman MJ (1999). Familial patent ductus arteriosus and bicuspid aortic valve with hand abnormalities: a novel hand-heart syndrome. Am J Med Genet 87:175-179.
-
(1999)
Am J Med Genet
, vol.87
, pp. 175-179
-
-
Gelb, B.D.1
Zhang, J.2
Sommer, R.J.3
Wasserman, J.M.4
Reitman, M.J.5
-
5
-
-
85037970052
-
-
cited in text
-
Gong et al (1999) cited in text.
-
(1999)
-
-
Gong1
-
6
-
-
0033073979
-
Brachydactyly type B: Clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation
-
Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML (1999a). Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. Am J Hum Genet 64:578-585.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 578-585
-
-
Gong, Y.1
Chitayat, D.2
Kerr, B.3
Chen, T.4
Babul-Hirji, R.5
Pal, A.6
Reiss, M.7
Warman, M.L.8
-
7
-
-
0033052269
-
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
-
Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FPM, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML (1999b). Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nature Genet 21:302-304.
-
(1999)
Nature Genet
, vol.21
, pp. 302-304
-
-
Gong, Y.1
Krakow, D.2
Marcelino, J.3
Wilkin, D.4
Chitayat, D.5
Babul-Hirji, R.6
Hudgins, L.7
Cremers, C.W.8
Cremers, F.P.M.9
Brunner, H.G.10
Reinker, K.11
Rimoin, D.L.12
Cohn, D.H.13
Goodman, F.R.14
Reardon, W.15
Patton, M.16
Francomano, C.A.17
Warman, M.L.18
-
8
-
-
0016215357
-
Symphalangism and brachydactyly syndrome: Review of literature and classification
-
Herrmann J (1974). Symphalangism and brachydactyly syndrome: review of literature and classification. Birth Defects Orig Art Ser X(5):23-53.
-
(1974)
Birth Defects Orig Art Ser
, vol.10
, Issue.5
, pp. 23-53
-
-
Herrmann, J.1
-
9
-
-
0030789047
-
The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia
-
Hilhorst-Hofstee Y, Watkin PM, Hall CM, Baraitser M (1997). The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. Clin Dysmorphol 6:195-203.
-
(1997)
Clin Dysmorphol
, vol.6
, pp. 195-203
-
-
Hilhorst-Hofstee, Y.1
Watkin, P.M.2
Hall, C.M.3
Baraitser, M.4
-
10
-
-
0028001613
-
Characteristic facies in type B brachydactyly?
-
Houlston R S, Temple IK (1994). Characteristic facies in type B brachydactyly? Clin Dysmorphol 3:224-227.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 224-227
-
-
Houlston, R.S.1
Temple, I.K.2
-
11
-
-
0021854768
-
The facio-audio-symphalangism syndrome: Report of a case and review of the literature
-
Hurvitz SA, Goodman RM, Hertz M et al. (1985). The facio-audio-symphalangism syndrome: report of a case and review of the literature. Clin Genet 28:61-68.
-
(1985)
Clin Genet
, vol.28
, pp. 61-68
-
-
Hurvitz, S.A.1
Goodman, R.M.2
Hertz, M.3
-
12
-
-
0032231746
-
Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22
-
Krakow D, Reinker K, Powell B, Cantor R, Priore MA, Garber A, Lachman RS, Rimoin DL, Cohn DH (1998). Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. Am J Hum Genet 63: 120-124.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 120-124
-
-
Krakow, D.1
Reinker, K.2
Powell, B.3
Cantor, R.4
Priore, M.A.5
Garber, A.6
Lachman, R.S.7
Rimoin, D.L.8
Cohn, D.H.9
-
13
-
-
0033069441
-
Brachydactyly type B: Linkage to chromosome 9q22 and evidence for genetic heterogeneity
-
Oldridge M, Temple IK, Santos HG, Gibbons RJ, Mustafa Z, Chapman KE, Loughlin J, Wilkie AOM (1999). Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. Am J Hum Genet 64:578-585.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 578-585
-
-
Oldridge, M.1
Temple, I.K.2
Santos, H.G.3
Gibbons, R.J.4
Mustafa, Z.5
Chapman, K.E.6
Loughlin, J.7
Wilkie, A.O.M.8
-
15
-
-
0029335980
-
Characteristic facies in type B brachydactyly?
-
Santos HG (1995). Characteristic facies in type B brachydactyly? (Letter). Clin Dysmorphol 4:274-275.
-
(1995)
Clin Dysmorphol
, vol.4
, pp. 274-275
-
-
Santos, H.G.1
-
16
-
-
0033564061
-
Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21
-
Satoda M, Pierpont MEM, Diaz GA, Bornemeier RA, Gelb BD (1999). Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. Circulation 99:3036-3042.
-
(1999)
Circulation
, vol.99
, pp. 3036-3042
-
-
Satoda, M.1
Pierpont, M.E.M.2
Diaz, G.A.3
Bornemeier, R.A.4
Gelb, B.D.5
-
17
-
-
0030837475
-
Familial patent ductus arteriosus: A further case of CHAR syndrome
-
Slavotinek A, Clayton-Smith J, Super M (1997). Familial patent ductus arteriosus: a Further case of CHAR syndrome. Am J Med Genet 71:229-232.
-
(1997)
Am J Med Genet
, vol.71
, pp. 229-232
-
-
Slavotinek, A.1
Clayton-Smith, J.2
Super, M.3
-
18
-
-
0029004022
-
Familial occurrence of patent ductus arteriosus
-
Sletten LJ, Pierpont MEM (1995). Familial occurrence of patent ductus arteriosus. Am J Med Genet 57:27-30.
-
(1995)
Am J Med Genet
, vol.57
, pp. 27-30
-
-
Sletten, L.J.1
Pierpont, M.E.M.2
-
19
-
-
0026435007
-
Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies)
-
Temple IK (1992). Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies). Clin Dysmorph 1:17-21.
-
(1992)
Clin Dysmorph
, vol.1
, pp. 17-21
-
-
Temple, I.K.1
-
20
-
-
0025308129
-
An autosomal dominant inherited syndrome with congenital stapes ankylosis
-
Teunissen B, Cremers CWRJ (1990). An autosomal dominant inherited syndrome with congenital stapes ankylosis. Laryngoscope 100:380-384.
-
(1990)
Laryngoscope
, vol.100
, pp. 380-384
-
-
Teunissen, B.1
Cremers, C.W.R.J.2
|