-
1
-
-
0025747907
-
Terminal deletion of chromosome 10q26 due to a paternal translocation (7;10)(q36;q26)
-
Borovik CL, Brunoni D. 1991. Terminal deletion of chromosome 10q26 due to a paternal translocation (7;10)(q36;q26). Am J Med Genet 41:534-536.
-
(1991)
Am J Med Genet
, vol.41
, pp. 534-536
-
-
Borovik, C.L.1
Brunoni, D.2
-
2
-
-
0031962673
-
Prenatal diagnosis of monosomy 10q25 associated with single umbilical artery and sex reversal: Report of a case
-
Chung YP, Hwa HL, Tseng LH, Shyu MK, Lee CN, Shih JC, Hsieh FJ. 1998. Prenatal diagnosis of monosomy 10q25 associated with single umbilical artery and sex reversal: report of a case. Prenat Diagn 18: 73-77.
-
(1998)
Prenat Diagn
, vol.18
, pp. 73-77
-
-
Chung, Y.P.1
Hwa, H.L.2
Tseng, L.H.3
Shyu, M.K.4
Lee, C.N.5
Shih, J.C.6
Hsieh, F.J.7
-
3
-
-
0022887141
-
Terminal deletion of the long arm of chromosome 10
-
Curtis H, Howell RT, Cope C. 1986. Terminal deletion of the long arm of chromosome 10. J Med Genet 23:478-480.
-
(1986)
J Med Genet
, vol.23
, pp. 478-480
-
-
Curtis, H.1
Howell, R.T.2
Cope, C.3
-
5
-
-
0024345715
-
Severe mid-line fusion defects in a newborn with 10q26→qter deletion
-
Fryns JP, Kleczkowska A, Fivez H, Van Den Berghe H. 1989. Severe mid-line fusion defects in a newborn with 10q26→qter deletion. Ann Genet 32:124-125.
-
(1989)
Ann Genet
, vol.32
, pp. 124-125
-
-
Fryns, J.P.1
Kleczkowska, A.2
Fivez, H.3
Van Den Berghe, H.4
-
6
-
-
0024357556
-
Terminal deletion of the long arm of chromosome 10: Case report and review of the literature
-
Gorinati M, Zamboni G, Padoin N, Dodero A, Caufin D, Memo L. 1989. Terminal deletion of the long arm of chromosome 10: case report and review of the literature. Am J Med Genet 33:502-504.
-
(1989)
Am J Med Genet
, vol.33
, pp. 502-504
-
-
Gorinati, M.1
Zamboni, G.2
Padoin, N.3
Dodero, A.4
Caufin, D.5
Memo, L.6
-
7
-
-
0343963198
-
Further delineation of the monosomy 10q syndrome
-
Greenberg F, Elder FFB, Clunsky J, Feldman G, Ledbetter DH. 1989. Further delineation of the monosomy 10q syndrome. Proc Greenwood Genet Center 8:214-215.
-
(1989)
Proc Greenwood Genet Center
, vol.8
, pp. 214-215
-
-
Greenberg, F.1
Elder, F.F.B.2
Clunsky, J.3
Feldman, G.4
Ledbetter, D.H.5
-
8
-
-
0028113931
-
Jackson-Weiss and Crouzon syndromes are allelic with mutations in the fibroblast growth factor receptor
-
Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao J, Charnas LR, Jackson C, Jaye M. 1994. Jackson-Weiss and Crouzon syndromes are allelic with mutations in the fibroblast growth factor receptor. Nat Genet 8:275-279.
-
(1994)
Nat Genet
, vol.8
, pp. 275-279
-
-
Jabs, E.W.1
Li, X.2
Scott, A.F.3
Meyers, G.4
Chen, W.5
Eccles, M.6
Mao, J.7
Charnas, L.R.8
Jackson, C.9
Jaye, M.10
-
13
-
-
0031020668
-
Localization of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease
-
Narahara K, Baker E, Ito S, Yokoyama Y, Yu S, Hewitt D, Sutherland GR, Eccles MR, Richards RI. 1997 Localization of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. J Med Genet 34:213-216.
-
(1997)
J Med Genet
, vol.34
, pp. 213-216
-
-
Narahara, K.1
Baker, E.2
Ito, S.3
Yokoyama, Y.4
Yu, S.5
Hewitt, D.6
Sutherland, G.R.7
Eccles, M.R.8
Richards, R.I.9
-
14
-
-
0028879329
-
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25
-
Nunes ME, Schutt G, Kapur RP, Luthardt F, Kukolich M, Byers P, Evans JP. 1995. A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. Hum Mol Genet 4:2165-2170.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2165-2170
-
-
Nunes, M.E.1
Schutt, G.2
Kapur, R.P.3
Luthardt, F.4
Kukolich, M.5
Byers, P.6
Evans, J.P.7
-
15
-
-
0018831815
-
Interstitial deletion of the long arm of chromosome 10
-
Ray M, Hunter AW, Josifek K. 1980. Interstitial deletion of the long arm of chromosome 10. Ann Genet 23:103-104.
-
(1980)
Ann Genet
, vol.23
, pp. 103-104
-
-
Ray, M.1
Hunter, A.W.2
Josifek, K.3
-
16
-
-
0027981524
-
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
-
Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. 1994. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 8:98-103.
-
(1994)
Nat Genet
, vol.8
, pp. 98-103
-
-
Reardon, W.1
Winter, R.M.2
Rutland, P.3
Pulleyn, L.J.4
Jones, B.M.5
Malcolm, S.6
-
18
-
-
0028930046
-
Mutations in FGFR1 and FGFR2cause familial and sporadic Pfeiffer syndrome
-
Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, Price RA, Cohen MM Jr, Muenke M. 1995. Mutations in FGFR1 and FGFR2cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 4:323-328.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 323-328
-
-
Schell, U.1
Hehr, A.2
Feldman, G.J.3
Robin, N.H.4
Zackai, E.H.5
De Die-Smulders, C.6
Viskochil, D.H.7
Stewart, J.M.8
Wolff, G.9
Ohashi, H.10
Price, R.A.11
Cohen M.M., Jr.12
Muenke, M.13
-
19
-
-
0025766234
-
The partial monosomy 10q syndrome: Report on two patients and review of the developmental data
-
Schrander-Stumpel C, Fryns JP, Hamers G. 1991. The partial monosomy 10q syndrome: report on two patients and review of the developmental data. J Ment Defic Res 35:259-267.
-
(1991)
J Ment Defic Res
, vol.35
, pp. 259-267
-
-
Schrander-Stumpel, C.1
Fryns, J.P.2
Hamers, G.3
-
20
-
-
0021962019
-
Deletions of the long arm of chromosome 10
-
Shapiro SD, Hansen KL, Pasztor LM, DiLiberti JH, Jorgenson RJ, Young RS, Moore CM. 1985. Deletions of the long arm of chromosome 10. Am J Med Genet 20:181-196.
-
(1985)
Am J Med Genet
, vol.20
, pp. 181-196
-
-
Shapiro, S.D.1
Hansen, K.L.2
Pasztor, L.M.3
DiLiberti, J.H.4
Jorgenson, R.J.5
Young, R.S.6
Moore, C.M.7
-
21
-
-
0019976801
-
Terminal deletion of the long arm of chromosome 10:Q26qter
-
Taysi K, Strauss AW, Yang V, Padmalatha C, Marshall RE. 1982. Terminal deletion of the long arm of chromosome 10:q26qter. Ann Genet 25:141-144.
-
(1982)
Ann Genet
, vol.25
, pp. 141-144
-
-
Taysi, K.1
Strauss, A.W.2
Yang, V.3
Padmalatha, C.4
Marshall, R.E.5
-
24
-
-
0021342771
-
Familial balanced insertion (5,10) and monosomy and trisomy (10)(q24.2q25.3)
-
Van de Vooren MJ, Planteydt HT, Hagemeijer A, Peters-Slough MF, Timmerman MJ. 1984. Familial balanced insertion (5,10) and monosomy and trisomy (10)(q24.2q25.3). Clin Genet 25:52-58.
-
(1984)
Clin Genet
, vol.25
, pp. 52-58
-
-
Van De Vooren, M.J.1
Planteydt, H.T.2
Hagemeijer, A.3
Peters-Slough, M.F.4
Timmerman, M.J.5
-
26
-
-
0027198809
-
Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases
-
Wilkie AOM, Campbell FM, Daubeney P, Grant DB, Daniels RJ, Mullarkey M, Affara NA, Fitchett M, Huson SM. 1993. Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases. Am J Med Genet 46:597-600.
-
(1993)
Am J Med Genet
, vol.46
, pp. 597-600
-
-
Wilkie, A.O.M.1
Campbell, F.M.2
Daubeney, P.3
Grant, D.B.4
Daniels, R.J.5
Mullarkey, M.6
Affara, N.A.7
Fitchett, M.8
Huson, S.M.9
-
27
-
-
0024373340
-
Chromosome 10qter deletion syndrome: A review and report of three new cases
-
Wulfsberg EA, Weaver RP, Cunnif CM, Jones MC, Jones KL. 1989. Chromosome 10qter deletion syndrome: a review and report of three new cases. Am J Med Genet 32:364-367.
-
(1989)
Am J Med Genet
, vol.32
, pp. 364-367
-
-
Wulfsberg, E.A.1
Weaver, R.P.2
Cunnif, C.M.3
Jones, M.C.4
Jones, K.L.5
-
28
-
-
0020512467
-
Clinical features of monosomy 10qter
-
Zatterale A, Pagano L, Fioretti G, Caniglia M, Festa B, Renda S, Rinaldi MM, Ventruto V. 1983. Clinical features of monosomy 10qter. Ann Genet 26:106-108.
-
(1983)
Ann Genet
, vol.26
, pp. 106-108
-
-
Zatterale, A.1
Pagano, L.2
Fioretti, G.3
Caniglia, M.4
Festa, B.5
Renda, S.6
Rinaldi, M.M.7
Ventruto, V.8
|