-
1
-
-
0000781807
-
Holoprosencephaly associated with 46,XX,del(14)(q11.1q13)
-
Proc 8th Int Congr Hum Genet, abst 1483
-
Levin SW, Surana RB. Holoprosencephaly associated with 46,XX,del(14)(q11.1q13). Proc 8th Int Congr Hum Genet, abst 1483. Am J Hum Genet Suppl 1991;49:269.
-
(1991)
Am J Hum Genet Suppl
, vol.49
, pp. 269
-
-
Levin, S.W.1
Surana, R.B.2
-
2
-
-
0025014506
-
Two siblings with interstitial deletion of chromosome 14 [46,XX,del(14)(q12q13.3)]
-
Kodoma M, Kai Y, Sugino S, Inokuchi N, Miike T. Two siblings with interstitial deletion of chromosome 14 [46,XX,del(14)(q12q13.3)]. No to Hattatsu (Brain Dev) 1990;22:61-5.
-
(1990)
No to Hattatsu (Brain Dev)
, vol.22
, pp. 61-65
-
-
Kodoma, M.1
Kai, Y.2
Sugino, S.3
Inokuchi, N.4
Miike, T.5
-
3
-
-
0028318502
-
First case of deletion 14q11.2q13
-
Grammatico P, de Sanctis S, di Rosa C, Cupilari F, del Porto G. First case of deletion 14q11.2q13. Ann Genet (Paris) 1994;37:30-2.
-
(1994)
Ann Genet (Paris)
, vol.37
, pp. 30-32
-
-
Grammatico, P.1
De Sanctis, S.2
Di Rosa, C.3
Cupilari, F.4
Del Porto, G.5
-
4
-
-
0028060121
-
De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations
-
Shapira SK, Anderson KL, Orr-Urtregar A, Craigen WJ, Lupski JR, Shaffer LG. De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. Am J Med Genet 1994;52:44-50.
-
(1994)
Am J Med Genet
, vol.52
, pp. 44-50
-
-
Shapira, S.K.1
Anderson, K.L.2
Orr-Urtregar, A.3
Craigen, W.J.4
Lupski, J.R.5
Shaffer, L.G.6
-
5
-
-
0029846092
-
Di novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly
-
Bruyere H, Favre B, Douvier S, Nivelon-Chevalier A, Mugneret F. Di novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly. Prenat Diagn 1996;16:1059-60.
-
(1996)
Prenat Diagn
, vol.16
, pp. 1059-1060
-
-
Bruyere, H.1
Favre, B.2
Douvier, S.3
Nivelon-Chevalier, A.4
Mugneret, F.5
-
6
-
-
0011977665
-
Holoprosencephaly as a genetic model for normal craniofacial development
-
Muenke M. Holoprosencephaly as a genetic model for normal craniofacial development. Semin Dev Biol 1994;5:293-301.
-
(1994)
Semin Dev Biol
, vol.5
, pp. 293-301
-
-
Muenke, M.1
-
7
-
-
0026339876
-
Report of the committee on clinical disorders, chromosome aberrations, and uniparental disomy
-
Frézal J, Schinzel A. Report of the committee on clinical disorders, chromosome aberrations, and uniparental disomy. Cytogenet Cell Genet 1991;58:986-1052.
-
(1991)
Cytogenet Cell Genet
, vol.58
, pp. 986-1052
-
-
Frézal, J.1
Schinzel, A.2
-
8
-
-
16144368562
-
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
-
Belloni E, Muenke M, Roessler E, et al. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 1996;14:353-6.
-
(1996)
Nat Genet
, vol.14
, pp. 353-356
-
-
Belloni, E.1
Muenke, M.2
Roessler, E.3
-
9
-
-
0030294408
-
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
-
Roessler E, Belloni E, Gaudenz K, et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 1996;14:357-60.
-
(1996)
Nat Genet
, vol.14
, pp. 357-360
-
-
Roessler, E.1
Belloni, E.2
Gaudenz, K.3
-
10
-
-
0029838858
-
Holoprosencephaly: Epidemiologic and clinical characteristics of a California population
-
Croen LA, Shaw GM, Lammer EJ. Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet 1996;64:465-72.
-
(1996)
Am J Med Genet
, vol.64
, pp. 465-472
-
-
Croen, L.A.1
Shaw, G.M.2
Lammer, E.J.3
-
11
-
-
0027296914
-
Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries
-
van Essen AJ, Schools CJF, van Lingen RA, Mourits MJE, Tuerlings JHAM, Leegte B. Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries. Am J Med Genet 1993;47:85-8.
-
(1993)
Am J Med Genet
, vol.47
, pp. 85-88
-
-
Van Essen, A.J.1
Schools, C.J.F.2
Van Lingen, R.A.3
Mourits, M.J.E.4
Tuerlings, J.H.A.M.5
Leegte, B.6
-
13
-
-
0024580671
-
Holoprosencephaly, ear abnormalities, congenital heart defect and microphallus in a patient with 11q- Mosaicism
-
Helmuth RA, Weaver DD, Wills ER. Holoprosencephaly, ear abnormalities, congenital heart defect and microphallus in a patient with 11q- mosaicism. Am J Med Genet 1989;32:178-81.
-
(1989)
Am J Med Genet
, vol.32
, pp. 178-181
-
-
Helmuth, R.A.1
Weaver, D.D.2
Wills, E.R.3
-
14
-
-
0020322650
-
Editorial comment: CNS anomalies and the midline as a "developmental field"
-
Opitz JM, Gilbert EF. Editorial comment: CNS anomalies and the midline as a "developmental field". Am J Med Genet 1982;12:443-55.
-
(1982)
Am J Med Genet
, vol.12
, pp. 443-455
-
-
Opitz, J.M.1
Gilbert, E.F.2
|