-
1
-
-
0034976020
-
Pulmonary atresia with ventricular septal defect: Prevalence of deletion 22q11 in the different anatomic patterns
-
Anaclerio S, Marino B, Carotti A, Digilio MC, Toscano A, Gitto P, Giannotti A, Di Donato R, Dallapiccola B. 2001. Pulmonary atresia with ventricular septal defect: Prevalence of deletion 22q11 in the different anatomic patterns. Ital Heart J 2:384-387.
-
(2001)
Ital Heart J
, vol.2
, pp. 384-387
-
-
Anaclerio, S.1
Marino, B.2
Carotti, A.3
Digilio, M.C.4
Toscano, A.5
Gitto, P.6
Giannotti, A.7
Di Donato, R.8
Dallapiccola, B.9
-
2
-
-
0027426003
-
High resolution mapping of interstitial long arm deletions of chromosome 16: Relationship to phenotype
-
Callen DF, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J, et al. 1993. High resolution mapping of interstitial long arm deletions of chromosome 16: Relationship to phenotype. J Med Genet 30:828-832.
-
(1993)
J Med Genet
, vol.30
, pp. 828-832
-
-
Callen, D.F.1
Eyre, H.2
Lane, S.3
Shen, Y.4
Hansmann, I.5
Spinner, N.6
Zackai, E.7
McDonald-McGinn, D.8
Schuffenhauer, S.9
Wauters, J.10
-
3
-
-
0025169258
-
Deletion of 16q with prolonged survival and unusual radiographic manifestations
-
Casamassima AC, Klein RM, Wilmot PL, Brenholz P, Shapiro LR. 1990. Deletion of 16q with prolonged survival and unusual radiographic manifestations. Am J Med Genet 37:504-509.
-
(1990)
Am J Med Genet
, vol.37
, pp. 504-509
-
-
Casamassima, A.C.1
Klein, R.M.2
Wilmot, P.L.3
Brenholz, P.4
Shapiro, L.R.5
-
4
-
-
0031835542
-
Prenatal diagnosis of de novo interstitial 16q deletion in a fetus associated with sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones
-
Chen CP, Chern SR, Lee CC, Chen LF, Chuang CY. 1998. Prenatal diagnosis of de novo interstitial 16q deletion in a fetus associated with sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones. Prenat Diagn 18:490-495.
-
(1998)
Prenat Diagn
, vol.18
, pp. 490-495
-
-
Chen, C.P.1
Chern, S.R.2
Lee, C.C.3
Chen, L.F.4
Chuang, C.Y.5
-
5
-
-
0031920989
-
Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect
-
Chessa M, Butera G, Bonhoeffer P, Iserin L, Kachaner J, Lyonnet S, Munnich A, Sidi D, Bonnet D. 1998. Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect. Heart 79:186-190.
-
(1998)
Heart
, vol.79
, pp. 186-190
-
-
Chessa, M.1
Butera, G.2
Bonhoeffer, P.3
Iserin, L.4
Kachaner, J.5
Lyonnet, S.6
Munnich, A.7
Sidi, D.8
Bonnet, D.9
-
6
-
-
0023137727
-
Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis
-
Cooke A, Tolmie J, Darlington W, Boyd E, Thomson R, Ferguson-Smith MA. 1987. Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis. J Med Genet 24:88-92.
-
(1987)
J Med Genet
, vol.24
, pp. 88-92
-
-
Cooke, A.1
Tolmie, J.2
Darlington, W.3
Boyd, E.4
Thomson, R.5
Ferguson-Smith, M.A.6
-
7
-
-
0028351304
-
Multiple critical smallest region of overlap in monosomy 16Q syndrome?
-
Doco-Fenzy M, Elchardus JF, Brami G, Digeon B, Gruson N, Adnet JJ. 1994. Multiple critical smallest region of overlap in monosomy 16Q syndrome? Genet Couns 5:39-44.
-
(1994)
Genet Couns
, vol.5
, pp. 39-44
-
-
Doco-Fenzy, M.1
Elchardus, J.F.2
Brami, G.3
Digeon, B.4
Gruson, N.5
Adnet, J.J.6
-
8
-
-
0026009080
-
Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation
-
Edelhoff S, Maier B, Trautmann U, Pfeiffer RA. 1991. Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation. Ann Genet 34:85-89.
-
(1991)
Ann Genet
, vol.34
, pp. 85-89
-
-
Edelhoff, S.1
Maier, B.2
Trautmann, U.3
Pfeiffer, R.A.4
-
9
-
-
0021269786
-
Identical twins with deletion 16q syndrome: Evidence that 16q12.2-q13 is the critical band region
-
Elder FF, Ferguson JW, Lockhart LH. 1984. Identical twins with deletion 16q syndrome: Evidence that 16q12.2-q13 is the critical band region. Hum Genet 67:233-236.
-
(1984)
Hum Genet
, vol.67
, pp. 233-236
-
-
Elder, F.F.1
Ferguson, J.W.2
Lockhart, L.H.3
-
10
-
-
0017703549
-
Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16))q21)
-
Fryns JP, Melchoir S, Jaeken J, van den Berghe H. 1977. Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16))q21). Hum Genet 38:343-346.
-
(1977)
Hum Genet
, vol.38
, pp. 343-346
-
-
Fryns, J.P.1
Melchoir, S.2
Jaeken, J.3
van den Berghe, H.4
-
12
-
-
0026683577
-
Interstitial deletion of chromosome 16q: 16q22 is critical for 16q-syndrome
-
Fujiwara M, Yoshimoto T, Morita Y, Kamada M. 1992. Interstitial deletion of chromosome 16q: 16q22 is critical for 16q-syndrome. Am J Med Genet 43:561-564.
-
(1992)
Am J Med Genet
, vol.43
, pp. 561-564
-
-
Fujiwara, M.1
Yoshimoto, T.2
Morita, Y.3
Kamada, M.4
-
13
-
-
0043267988
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
-
Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D. 2003. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424:443-447.
-
(2003)
Nature
, vol.424
, pp. 443-447
-
-
Garg, V.1
Kathiriya, I.S.2
Barnes, R.3
Schluterman, M.K.4
King, I.N.5
Butler, C.A.6
Rothrock, C.R.7
Eapen, R.S.8
Hirayama-Yamada, K.9
Joo, K.10
Matsuoka, R.11
Cohen, J.C.12
Srivastava, D.13
-
14
-
-
9244261087
-
The genetic contribution to congenital heart disease
-
Goldmuntz E. 2004. The genetic contribution to congenital heart disease. Pediatr Clin N Am 51:1721-1737.
-
(2004)
Pediatr Clin N Am
, vol.51
, pp. 1721-1737
-
-
Goldmuntz, E.1
-
15
-
-
0032964354
-
Clinical relevance of monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect
-
Hofbeck M, Leipold G, Rauch A, Buheitel G, Singer H. 1999. Clinical relevance of monosomy 22q11.2 in children with pulmonary atresia and ventricular septal defect. Eur J Pediatr 158:302-307.
-
(1999)
Eur J Pediatr
, vol.158
, pp. 302-307
-
-
Hofbeck, M.1
Leipold, G.2
Rauch, A.3
Buheitel, G.4
Singer, H.5
-
16
-
-
0021869151
-
Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters
-
Hoo JJ, Lowry RB, Lin CC, Haslam RH. 1985. Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters. Clin Genet 27:420-425.
-
(1985)
Clin Genet
, vol.27
, pp. 420-425
-
-
Hoo, J.J.1
Lowry, R.B.2
Lin, C.C.3
Haslam, R.H.4
-
17
-
-
33750575433
-
Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome
-
Khan A, Hyde RK, Dutra A, Mohide P, Liu P. 2006. Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome. Am J Med Genet A 140:2349-2354.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2349-2354
-
-
Khan, A.1
Hyde, R.K.2
Dutra, A.3
Mohide, P.4
Liu, P.5
-
18
-
-
0023248780
-
Interstitial deletion and ring chromosome derived from 16q
-
Krauss CM, Caldwell D, Atkins L. 1987. Interstitial deletion and ring chromosome derived from 16q. J Med Genet 24:308-312.
-
(1987)
J Med Genet
, vol.24
, pp. 308-312
-
-
Krauss, C.M.1
Caldwell, D.2
Atkins, L.3
-
19
-
-
0021087476
-
Interstitial deletion for a region in the long arm of chromosome 16
-
Lin CC, Lowry RB, Snyder FF. 1983. Interstitial deletion for a region in the long arm of chromosome 16. Hum Genet 65:134-138.
-
(1983)
Hum Genet
, vol.65
, pp. 134-138
-
-
Lin, C.C.1
Lowry, R.B.2
Snyder, F.F.3
-
20
-
-
0043160216
-
Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect
-
Mahle WT, Crisalli J, Coleman K, Campbell RM, Tam VK, Vincent RN, Kanter KR. 2003. Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect. Ann Thorac Surg 76:567-571.
-
(2003)
Ann Thorac Surg
, vol.76
, pp. 567-571
-
-
Mahle, W.T.1
Crisalli, J.2
Coleman, K.3
Campbell, R.M.4
Tam, V.K.5
Vincent, R.N.6
Kanter, K.R.7
-
21
-
-
0023906585
-
16q21 is critical for 16q deletion syndrome
-
Naritomi K, Shiroma N, Izumikawa Y, Sameshima K, Ohdo S, Hirayama K. 1988. 16q21 is critical for 16q deletion syndrome. Clin Genet 33:372-375.
-
(1988)
Clin Genet
, vol.33
, pp. 372-375
-
-
Naritomi, K.1
Shiroma, N.2
Izumikawa, Y.3
Sameshima, K.4
Ohdo, S.5
Hirayama, K.6
-
22
-
-
0024434105
-
Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16
-
Natt E, Magenis RE, Zimmer J, Mansouri A, Scherer G. 1989. Regional assignment of the human loci for uvomorulin (UVO) and chymotrypsinogen B (CTRB) with the help of two overlapping deletions on the long arm of chromosome 16. Cytogenet Cell Genet 50:145-148.
-
(1989)
Cytogenet Cell Genet
, vol.50
, pp. 145-148
-
-
Natt, E.1
Magenis, R.E.2
Zimmer, J.3
Mansouri, A.4
Scherer, G.5
-
23
-
-
0023554995
-
Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 → q22.3 in a patient with tyrosinemia type II
-
Natt E, Westphal EM, Toth-Fejel SE, Magenis RE, Buist NR, Rettenmeier R, Scherer G. 1987. Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1 → q22.3 in a patient with tyrosinemia type II. Hum Genet 77:352-358.
-
(1987)
Hum Genet
, vol.77
, pp. 352-358
-
-
Natt, E.1
Westphal, E.M.2
Toth-Fejel, S.E.3
Magenis, R.E.4
Buist, N.R.5
Rettenmeier, R.6
Scherer, G.7
-
24
-
-
0021800044
-
Monosomy 16q: A distinct syndrome. Apropos of a de novo del(16) (q2100q2300)
-
Rivera H, Vargas-Moyeda E, Moller M, Torres-Lamas A, Cantu JM. 1985. Monosomy 16q: A distinct syndrome. Apropos of a de novo del(16) (q2100q2300). Clin Genet 28:84-86.
-
(1985)
Clin Genet
, vol.28
, pp. 84-86
-
-
Rivera, H.1
Vargas-Moyeda, E.2
Moller, M.3
Torres-Lamas, A.4
Cantu, J.M.5
-
25
-
-
0026469756
-
De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boy
-
Schuffenhauer S, Callen DF, Seidel H, Shen Y, Lederer G, Murken J. 1992. De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boy. Clin Genet 42:246-250.
-
(1992)
Clin Genet
, vol.42
, pp. 246-250
-
-
Schuffenhauer, S.1
Callen, D.F.2
Seidel, H.3
Shen, Y.4
Lederer, G.5
Murken, J.6
-
26
-
-
4444327111
-
Molecular characterization of inv dup del(8p) analysis of five cases
-
Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. 2004. Molecular characterization of inv dup del(8p) analysis of five cases. Am J Med Genet A 128:133-137.
-
(2004)
Am J Med Genet A
, vol.128
, pp. 133-137
-
-
Shimokawa, O.1
Kurosawa, K.2
Ida, T.3
Harada, N.4
Kondoh, T.5
Miyake, N.6
Yoshiura, K.7
Kishino, T.8
Ohta, T.9
Niikawa, N.10
Matsumoto, N.11
-
27
-
-
0018125886
-
A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16) (q22)
-
Taysi K, Fishman M, Sekhon GS. 1978. A terminal long arm deletion of chromosome 16 in a dysmorphic infant: 46,XY,del(16) (q22). Birth Defects Orig Artic Ser 14:343-347.
-
(1978)
Birth Defects Orig Artic Ser
, vol.14
, pp. 343-347
-
-
Taysi, K.1
Fishman, M.2
Sekhon, G.S.3
-
28
-
-
0034098015
-
Congenital Heart Surgery Nomenclature and Database Project: Pulmonary atresia-ventricular septal defect
-
Tchervenkov CI, Roy N. 2000. Congenital Heart Surgery Nomenclature and Database Project: Pulmonary atresia-ventricular septal defect. Ann Thorac Surg 69:S97-105.
-
(2000)
Ann Thorac Surg
, vol.69
-
-
Tchervenkov, C.I.1
Roy, N.2
-
29
-
-
33750037002
-
Prenatally diagnosed pulmonary atresia with ventricular septal defect: Echocardiography, genetics, associated anomalies and outcome
-
Vesel S, Rollings S, Jones A, Callaghan N, Simpson J, Sharland GK. 2006. Prenatally diagnosed pulmonary atresia with ventricular septal defect: Echocardiography, genetics, associated anomalies and outcome. Heart 92:1501-1505.
-
(2006)
Heart
, vol.92
, pp. 1501-1505
-
-
Vesel, S.1
Rollings, S.2
Jones, A.3
Callaghan, N.4
Simpson, J.5
Sharland, G.K.6
-
30
-
-
10744223651
-
Role of TBX1 in human del22q11.2 syndrome
-
Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R. 2003. Role of TBX1 in human del22q11.2 syndrome. Lancet 362:1366-1373.
-
(2003)
Lancet
, vol.362
, pp. 1366-1373
-
-
Yagi, H.1
Furutani, Y.2
Hamada, H.3
Sasaki, T.4
Asakawa, S.5
Minoshima, S.6
Ichida, F.7
Joo, K.8
Kimura, M.9
Imamura, S.10
Kamatani, N.11
Momma, K.12
Takao, A.13
Nakazawa, M.14
Shimizu, N.15
Matsuoka, R.16
-
31
-
-
0036766281
-
Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion
-
Yamagishi H, Maeda J, Higuchi M, Katada Y, Yamagishi C, Matsuo N, Kojima Y. 2002. Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion. Clin Genet 62:214-219.
-
(2002)
Clin Genet
, vol.62
, pp. 214-219
-
-
Yamagishi, H.1
Maeda, J.2
Higuchi, M.3
Katada, Y.4
Yamagishi, C.5
Matsuo, N.6
Kojima, Y.7
|