-
1
-
-
79955474192
-
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association
-
PID: 21315191
-
Agochukwu NB, Pineda-Alvarez DE, Keaton AA, Warren-Mora N, Raam MS, Kamat A, Chandrasekharappa SC, Solomon BD (2011) Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association. Eur J Med Genet 54:323–328
-
(2011)
Eur J Med Genet
, vol.54
, pp. 323-328
-
-
Agochukwu, N.B.1
Pineda-Alvarez, D.E.2
Keaton, A.A.3
Warren-Mora, N.4
Raam, M.S.5
Kamat, A.6
Chandrasekharappa, S.C.7
Solomon, B.D.8
-
2
-
-
77649217211
-
Sonic hedgehog mutation analysis in patients with VACTERL association
-
PID: 20186790
-
Aguinaga M, Zenteno JC, Pérez-Cano H, Morán V (2010) Sonic hedgehog mutation analysis in patients with VACTERL association. Am J Med Genet A 152A:781–783
-
(2010)
Am J Med Genet A
, vol.152A
, pp. 781-783
-
-
Aguinaga, M.1
Zenteno, J.C.2
Pérez-Cano, H.3
Morán, V.4
-
3
-
-
0027486966
-
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
-
PID: 7907669, COI: 1:STN:280:DyaK2c7otVGjsQ%3D%3D
-
Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH (1993) Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 270:2838–2842
-
(1993)
JAMA
, vol.270
, pp. 2838-2842
-
-
Dobyns, W.B.1
Reiner, O.2
Carrozzo, R.3
Ledbetter, D.H.4
-
4
-
-
77649122250
-
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
-
PID: 20154674, COI: 1:CAS:528:DC%2BC3cXhvFGms7Y%3D
-
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, OzmoreJR MJB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE (2010) A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42:203–209
-
(2010)
Nat Genet
, vol.42
, pp. 203-209
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Cooper, G.M.3
Antonacci, F.4
Siswara, P.5
Itsara, A.6
Vives, L.7
Walsh, T.8
McCarthy, S.E.9
Baker, C.10
Mefford, H.C.11
Kidd, J.M.12
Browning, S.R.13
Browning, B.L.14
Dickel, D.E.15
Levy, D.L.16
Ballif, B.C.17
Platky, K.18
Farber, D.M.19
Gowans, G.C.20
Wetherbee, J.J.21
Asamoah, A.22
Weaver, D.D.23
Mark, P.R.24
Dickerson, J.25
Garg, B.P.26
Ellingwood, S.A.27
Smith, R.28
Banks, V.C.29
Smith, W.30
McDonald, M.T.31
Hoo, J.J.32
French, B.N.33
Hudson, C.34
Johnson, J.P.35
OzmoreJR, M.J.B.36
Surti, U.37
Escobar, L.F.38
El-Khechen, D.39
Gorski, J.L.40
Kussmann, J.41
Salbert, B.42
Lacassie, Y.43
Biser, A.44
McDonald-McGinn, D.M.45
Zackai, E.H.46
Deardorff, M.A.47
Shaikh, T.H.48
Haan, E.49
Friend, K.L.50
Fichera, M.51
Romano, C.52
Gécz, J.53
DeLisi, L.E.54
Sebat, J.55
King, M.C.56
Shaffer, L.G.57
Eichler, E.E.58
more..
-
5
-
-
34247169637
-
Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller–Dieker syndrome
-
PID: 17437911
-
Izumi K, Kuratsuji G, Ikeda K, Takahashi T, Kosaki K (2007) Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller–Dieker syndrome. Pediatr Neurol 36:258–260
-
(2007)
Pediatr Neurol
, vol.36
, pp. 258-260
-
-
Izumi, K.1
Kuratsuji, G.2
Ikeda, K.3
Takahashi, T.4
Kosaki, K.5
-
6
-
-
70350167612
-
Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
-
PID: 19584063, COI: 1:CAS:528:DC%2BC3cXmt1Ggsw%3D%3D
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Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P (2009) Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet 46:825–833
-
(2009)
J Med Genet
, vol.46
, pp. 825-833
-
-
Nagamani, S.C.1
Zhang, F.2
Shchelochkov, O.A.3
Bi, W.4
Ou, Z.5
Scaglia, F.6
Probst, F.J.7
Shinawi, M.8
Eng, C.9
Hunter, J.V.10
Sparagana, S.11
Lagoe, E.12
Fong, C.T.13
Pearson, M.14
Doco-Fenzy, M.15
Landais, E.16
Mozelle, M.17
Chinault, A.C.18
Patel, A.19
Bacino, C.A.20
Sahoo, T.21
Kang, S.H.22
Cheung, S.W.23
Lupski, J.R.24
Stankiewicz, P.25
more..
-
7
-
-
67049100392
-
Caudal regression and tracheoesophageal malformation induced by adriamycin: a novel chick model of VATER association
-
PID: 19218883, COI: 1:CAS:528:DC%2BD1MXlvV2mtrs%3D
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Naito Y, Kimura T, Aramaki M, Izumi K, Okada Y, Suzuki H, Takahashi T, Kosaki K (2009) Caudal regression and tracheoesophageal malformation induced by adriamycin: a novel chick model of VATER association. Pediatr Res 65:607–612
-
(2009)
Pediatr Res
, vol.65
, pp. 607-612
-
-
Naito, Y.1
Kimura, T.2
Aramaki, M.3
Izumi, K.4
Okada, Y.5
Suzuki, H.6
Takahashi, T.7
Kosaki, K.8
-
8
-
-
0015541929
-
The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: a spectrum of associated defects
-
PID: 4681850, COI: 1:STN:280:DyaE3s%2FkvVKlug%3D%3D
-
Quan L, Smith DW (1973) The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: a spectrum of associated defects. J Pediatr 82:104–107
-
(1973)
J Pediatr
, vol.82
, pp. 104-107
-
-
Quan, L.1
Smith, D.W.2
-
9
-
-
84870236551
-
Clinical geneticists' views of VACTERL/VATER association
-
PID: 23165726
-
Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF (2012) Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A 158A:3087–3100
-
(2012)
Am J Med Genet A
, vol.158A
, pp. 3087-3100
-
-
Solomon, B.D.1
Bear, K.A.2
Kimonis, V.3
de Klein, A.4
Scott, D.A.5
Shaw-Smith, C.6
Tibboel, D.7
Reutter, H.8
Giampietro, P.F.9
-
10
-
-
77649134592
-
Understanding variable expressivity in microdeletion syndromes
-
PID: 20179732, COI: 1:CAS:528:DC%2BC3cXitlaisbw%3D
-
Veltman JA, Brunner HG (2010) Understanding variable expressivity in microdeletion syndromes. Nat Genet 42:192–193
-
(2010)
Nat Genet
, vol.42
, pp. 192-193
-
-
Veltman, J.A.1
Brunner, H.G.2
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