-
1
-
-
0017821181
-
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome
-
Shprintzen R.J., Goldberg R.B., Lewin M.L., et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. 1978, 15(1):56-62.
-
(1978)
Cleft Palate J.
, vol.15
, Issue.1
, pp. 56-62
-
-
Shprintzen, R.J.1
Goldberg, R.B.2
Lewin, M.L.3
-
2
-
-
28044450587
-
Velo-cardio-facial syndrome
-
Shprintzen R.J., Higgins A.M., Antshel K., Fremont W., Roizen N., Kates W. Velo-cardio-facial syndrome. Curr. Opin. Pediatr. 2005, 17(6):725-730.
-
(2005)
Curr. Opin. Pediatr.
, vol.17
, Issue.6
, pp. 725-730
-
-
Shprintzen, R.J.1
Higgins, A.M.2
Antshel, K.3
Fremont, W.4
Roizen, N.5
Kates, W.6
-
3
-
-
22144493861
-
Defining the clinical spectrum of deletion 22q11.2
-
Robin N.H., Shprintzen R.J. Defining the clinical spectrum of deletion 22q11.2. J. Pediatr. 2005, 147(1):90-96.
-
(2005)
J. Pediatr.
, vol.147
, Issue.1
, pp. 90-96
-
-
Robin, N.H.1
Shprintzen, R.J.2
-
4
-
-
0029033626
-
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome
-
Morrow B., Goldberg R., Carlson C., et al. Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am. J. Hum. Genet. 1995, 56(6):1391-1403.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, Issue.6
, pp. 1391-1403
-
-
Morrow, B.1
Goldberg, R.2
Carlson, C.3
-
5
-
-
16944364251
-
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
-
Carlson C., Sirotkin H., Pandita R., et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am. J. Hum. Genet. 1997, 61(3):620-629.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, Issue.3
, pp. 620-629
-
-
Carlson, C.1
Sirotkin, H.2
Pandita, R.3
-
6
-
-
0032790898
-
A common molecular basis for rearrangement disorders on chromosome 22q11
-
Edelmann L., Pandita R.K., Spiteri E., et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum. Mol. Genet. 1999, 8(7):1157-1167.
-
(1999)
Hum. Mol. Genet.
, vol.8
, Issue.7
, pp. 1157-1167
-
-
Edelmann, L.1
Pandita, R.K.2
Spiteri, E.3
-
7
-
-
0033358588
-
Low-copy repeats mediate the common 3-mb deletion in patients with velo-cardio-facial syndrome
-
Edelmann L., Pandita R.K., Morrow B.E. Low-copy repeats mediate the common 3-mb deletion in patients with velo-cardio-facial syndrome. Am. J. Hum. Genet. 1999, 64(4):1076-1086.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, Issue.4
, pp. 1076-1086
-
-
Edelmann, L.1
Pandita, R.K.2
Morrow, B.E.3
-
8
-
-
0034161932
-
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis
-
Shaikh T.H., Kurahashi H., Saitta S.C., et al. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum. Mol. Genet. 2000, 9(4):489-501.
-
(2000)
Hum. Mol. Genet.
, vol.9
, Issue.4
, pp. 489-501
-
-
Shaikh, T.H.1
Kurahashi, H.2
Saitta, S.C.3
-
9
-
-
0020395351
-
Palatal and pharyngeal anomalies in craniofacial syndromes
-
Shprintzen R.J. Palatal and pharyngeal anomalies in craniofacial syndromes. Birth Defects Orig. Artic. Ser. 1982, 18(1):53-78.
-
(1982)
Birth Defects Orig. Artic. Ser.
, vol.18
, Issue.1
, pp. 53-78
-
-
Shprintzen, R.J.1
-
11
-
-
0342658137
-
Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development
-
Chapman D.L., Garvey N., Hancock S., et al. Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev. Dyn. 1996, 206(4):379-390.
-
(1996)
Dev. Dyn.
, vol.206
, Issue.4
, pp. 379-390
-
-
Chapman, D.L.1
Garvey, N.2
Hancock, S.3
-
12
-
-
0035098557
-
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
-
Jerome L.A., Papaioannou V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat. Genet. 2001, 27(3):286-291.
-
(2001)
Nat. Genet.
, vol.27
, Issue.3
, pp. 286-291
-
-
Jerome, L.A.1
Papaioannou, V.E.2
-
13
-
-
0035263599
-
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
-
Lindsay E.A., Vitelli F., Su H., et al. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 2001, 410(6824):97-101.
-
(2001)
Nature
, vol.410
, Issue.6824
, pp. 97-101
-
-
Lindsay, E.A.1
Vitelli, F.2
Su, H.3
-
14
-
-
17744395906
-
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome
-
Merscher S., Funke B., Epstein J.A., et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 2001, 104(4):619-629.
-
(2001)
Cell
, vol.104
, Issue.4
, pp. 619-629
-
-
Merscher, S.1
Funke, B.2
Epstein, J.A.3
-
15
-
-
0037329890
-
VEGF: a modifier of the del22q11 (DiGeorge) syndrome?
-
Stalmans I., Lambrechts D., De Smet F., et al. VEGF: a modifier of the del22q11 (DiGeorge) syndrome?. Nat. Med. 2003, 9(2):173-182.
-
(2003)
Nat. Med.
, vol.9
, Issue.2
, pp. 173-182
-
-
Stalmans, I.1
Lambrechts, D.2
De Smet, F.3
-
16
-
-
0036797067
-
A genetic link between Tbx1 and fibroblast growth factor signaling
-
Vitelli F., Taddei I., Morishima M., Meyers E.N., Lindsay E.A., Baldini A. A genetic link between Tbx1 and fibroblast growth factor signaling. Development 2002, 129(19):4605-4611.
-
(2002)
Development
, vol.129
, Issue.19
, pp. 4605-4611
-
-
Vitelli, F.1
Taddei, I.2
Morishima, M.3
Meyers, E.N.4
Lindsay, E.A.5
Baldini, A.6
-
17
-
-
0345120582
-
Robin sequences and complexes: causal heterogeneity and pathogenetic/phenotypic variability
-
Cohen M.M. Robin sequences and complexes: causal heterogeneity and pathogenetic/phenotypic variability. Am. J. Med. Genet. 1999, 84(4):311-315.
-
(1999)
Am. J. Med. Genet.
, vol.84
, Issue.4
, pp. 311-315
-
-
Cohen, M.M.1
-
18
-
-
0026485473
-
The implications of the diagnosis of robin sequence
-
Shprintzen R.J. The implications of the diagnosis of robin sequence. Cleft Palate Craniofac. J. 1992, 29(3):205-209.
-
(1992)
Cleft Palate Craniofac. J.
, vol.29
, Issue.3
, pp. 205-209
-
-
Shprintzen, R.J.1
-
19
-
-
0030927637
-
Chromosome 22q11 deletion presenting as the potter sequence
-
Devriendt K., Moerman P., Van Schoubroeck D., Vandenberghe K., Fryns J.P. Chromosome 22q11 deletion presenting as the potter sequence. J. Med. Genet. 1997, 34(5):423-425.
-
(1997)
J. Med. Genet.
, vol.34
, Issue.5
, pp. 423-425
-
-
Devriendt, K.1
Moerman, P.2
Van Schoubroeck, D.3
Vandenberghe, K.4
Fryns, J.P.5
-
20
-
-
0021868225
-
Velo-cardio-facial syndrome presenting as holoprosencephaly
-
Wraith J.E., Super M., Watson G.H., Phillips M. Velo-cardio-facial syndrome presenting as holoprosencephaly. Clin. Genet. 1985, 27(4):408-410.
-
(1985)
Clin. Genet.
, vol.27
, Issue.4
, pp. 408-410
-
-
Wraith, J.E.1
Super, M.2
Watson, G.H.3
Phillips, M.4
-
21
-
-
0018148237
-
The occult submucous cleft palate and the musculus uvulae
-
accessed 12.08.10
-
Croft C.B., Shprintzen R.J., Daniller A., Lewin M.L. The occult submucous cleft palate and the musculus uvulae. Cleft Palate J. 1978, 15(2):150-154. accessed 12.08.10.
-
(1978)
Cleft Palate J.
, vol.15
, Issue.2
, pp. 150-154
-
-
Croft, C.B.1
Shprintzen, R.J.2
Daniller, A.3
Lewin, M.L.4
-
22
-
-
33745114081
-
Upper airway asymmetry in velo-cardio-facial syndrome
-
Chegar B.E., Tatum S.A., Marrinan E., Shprintzen R.J. Upper airway asymmetry in velo-cardio-facial syndrome. Int. J. Pediatr. Otorhinolaryngol. 2006, 70(8):1375-1381.
-
(2006)
Int. J. Pediatr. Otorhinolaryngol.
, vol.70
, Issue.8
, pp. 1375-1381
-
-
Chegar, B.E.1
Tatum, S.A.2
Marrinan, E.3
Shprintzen, R.J.4
-
23
-
-
84856954469
-
Calculation for the chi-square test: an interactive calculation tool for chi-square tests of goodness of fit and independence
-
K.J. Preacher. Calculation for the chi-square test: an interactive calculation tool for chi-square tests of goodness of fit and independence. (accessed 28.05.10). http://www.quantpsy.org/.
-
accessed 28.05.10
-
-
Preacher, K.J.1
-
24
-
-
84856973279
-
-
VCFS educational foundation clinical database project. VCFS educational foundation. (accessed 28.05.10).
-
R.J. Shprintzen. VCFS educational foundation clinical database project. VCFS educational foundation. (accessed 28.05.10). http://www.vcfef.org/powerpoint/vcf_facts/index.htm.
-
-
-
Shprintzen, R.J.1
-
25
-
-
17444434198
-
Frequency of 22q11 deletions in patients with conotruncal defects
-
Goldmuntz E., Clark B.J., Mitchell L.E., et al. Frequency of 22q11 deletions in patients with conotruncal defects. J. Am. Coll. Cardiol. 1998, 32(2):492-498.
-
(1998)
J. Am. Coll. Cardiol.
, vol.32
, Issue.2
, pp. 492-498
-
-
Goldmuntz, E.1
Clark, B.J.2
Mitchell, L.E.3
-
26
-
-
0035746361
-
Anatomic patterns of conotruncal defects associated with deletion 22q11
-
Marino B., Digilio M.C., Toscano A., et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet. Med. 2001, 3(1):45-48.
-
(2001)
Genet. Med.
, vol.3
, Issue.1
, pp. 45-48
-
-
Marino, B.1
Digilio, M.C.2
Toscano, A.3
-
27
-
-
77952328830
-
Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome
-
Momma K. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am. J. Cardiol. 2010, 105(11):1617-1624.
-
(2010)
Am. J. Cardiol.
, vol.105
, Issue.11
, pp. 1617-1624
-
-
Momma, K.1
-
28
-
-
0019351294
-
The prevalence of congenital heart disease among the population of a metropolitan cleft lip and palate clinic
-
Geis N., Seto B., Bartoshesky L., Lewis M.B., Pashayan H.M. The prevalence of congenital heart disease among the population of a metropolitan cleft lip and palate clinic. Cleft Palate J. 1981, 18(1):19-23.
-
(1981)
Cleft Palate J.
, vol.18
, Issue.1
, pp. 19-23
-
-
Geis, N.1
Seto, B.2
Bartoshesky, L.3
Lewis, M.B.4
Pashayan, H.M.5
-
29
-
-
0021908240
-
Anomalies associated with cleft lip, cleft palate, or both
-
Shprintzen R.J., Siegel-Sadewitz V.L., Amato J., Goldberg R.B. Anomalies associated with cleft lip, cleft palate, or both. Am. J. Med. Genet. 1985, 20(4):585-595.
-
(1985)
Am. J. Med. Genet.
, vol.20
, Issue.4
, pp. 585-595
-
-
Shprintzen, R.J.1
Siegel-Sadewitz, V.L.2
Amato, J.3
Goldberg, R.B.4
-
30
-
-
0021914513
-
Congenital heart disease: prevalence at livebirth. The baltimore-washington infant study
-
Ferencz C., Rubin J.D., McCarter R.J., et al. Congenital heart disease: prevalence at livebirth. The baltimore-washington infant study. Am. J. Epidemiol. 1985, 121(1):31-36.
-
(1985)
Am. J. Epidemiol.
, vol.121
, Issue.1
, pp. 31-36
-
-
Ferencz, C.1
Rubin, J.D.2
McCarter, R.J.3
-
31
-
-
84856973280
-
-
Cleft palate. Orphanet. (accessed 13.08.10).
-
M. Vazquez. Cleft palate. Orphanet. (accessed 13.08.10). http://www.orpha.net/consor/cgi-bin/OC_Exp.php%3Flng=EN%26Expert=2014.
-
-
-
Vazquez, M.1
-
32
-
-
0025833053
-
Velocardiofacial (shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise
-
Lipson A.H., Yuille D., Angel M., Thompson P.G., Vandervoord J.G., Beckenham E.J. Velocardiofacial (shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. J. Med. Genet. 1991, 28(9):596-604.
-
(1991)
J. Med. Genet.
, vol.28
, Issue.9
, pp. 596-604
-
-
Lipson, A.H.1
Yuille, D.2
Angel, M.3
Thompson, P.G.4
Vandervoord, J.G.5
Beckenham, E.J.6
-
33
-
-
4344645793
-
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage
-
Liao J., Kochilas L., Nowotschin S., et al. Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum. Mol. Genet. 2004, 13(15):1577-1585.
-
(2004)
Hum. Mol. Genet.
, vol.13
, Issue.15
, pp. 1577-1585
-
-
Liao, J.1
Kochilas, L.2
Nowotschin, S.3
-
34
-
-
33645552248
-
Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations
-
Arnold J.S., Werling U., Braunstein E.M., et al. Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Development 2006, 133(5):977-987.
-
(2006)
Development
, vol.133
, Issue.5
, pp. 977-987
-
-
Arnold, J.S.1
Werling, U.2
Braunstein, E.M.3
-
35
-
-
0021273277
-
Craniofacial morphology in the velo-cardio-facial syndrome
-
Arvystas M., Shprintzen R.J. Craniofacial morphology in the velo-cardio-facial syndrome. J. Craniofac. Genet. Dev. Biol. 1984, 4(1):39-45.
-
(1984)
J. Craniofac. Genet. Dev. Biol.
, vol.4
, Issue.1
, pp. 39-45
-
-
Arvystas, M.1
Shprintzen, R.J.2
-
36
-
-
0023945405
-
Pierre robin, micrognathia, and airway obstruction: the dependency of treatment on accurate diagnosis
-
Shprintzen R.J. Pierre robin, micrognathia, and airway obstruction: the dependency of treatment on accurate diagnosis. Int. Anesthesiol. Clin. 1988, 26(1):64-71.
-
(1988)
Int. Anesthesiol. Clin.
, vol.26
, Issue.1
, pp. 64-71
-
-
Shprintzen, R.J.1
-
37
-
-
0022495418
-
Endoscopic observations of obstructive sleep apnea in children with anomalous upper airways: predictive and therapeutic value
-
Sher A.E., Shprintzen R.J., Thorpy M.J. Endoscopic observations of obstructive sleep apnea in children with anomalous upper airways: predictive and therapeutic value. Int. J. Pediatr. Otorhinolaryngol. 1986, 11(2):135-146.
-
(1986)
Int. J. Pediatr. Otorhinolaryngol.
, vol.11
, Issue.2
, pp. 135-146
-
-
Sher, A.E.1
Shprintzen, R.J.2
Thorpy, M.J.3
-
38
-
-
0026467122
-
Mechanisms of airway obstruction in robin sequence: implications for treatment
-
Sher A.E. Mechanisms of airway obstruction in robin sequence: implications for treatment. Cleft Palate Craniofac. J. 1992, 29(3):224-231.
-
(1992)
Cleft Palate Craniofac. J.
, vol.29
, Issue.3
, pp. 224-231
-
-
Sher, A.E.1
-
39
-
-
0037438595
-
Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects
-
Derbent M., Yilmaz Z., Baltaci V., Saygili A., Varan B., Tokel K. Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am. J. Med. Genet. A 2003, 116A(2):129-135.
-
(2003)
Am. J. Med. Genet. A
, vol.116 A
, Issue.2
, pp. 129-135
-
-
Derbent, M.1
Yilmaz, Z.2
Baltaci, V.3
Saygili, A.4
Varan, B.5
Tokel, K.6
-
40
-
-
1542495715
-
Thickness and histologic and histochemical properties of the superior pharyngeal constrictor muscle in velocardiofacial syndrome
-
Zim S., Schelper R., Kellman R., Tatum S., Ploutz-Snyder R., Shprintzen R. Thickness and histologic and histochemical properties of the superior pharyngeal constrictor muscle in velocardiofacial syndrome. Arch. Facial Plast. Surg. 2003, 5(6):503-510.
-
(2003)
Arch. Facial Plast. Surg.
, vol.5
, Issue.6
, pp. 503-510
-
-
Zim, S.1
Schelper, R.2
Kellman, R.3
Tatum, S.4
Ploutz-Snyder, R.5
Shprintzen, R.6
|