-
1
-
-
0018348787
-
Choanal atresia and associated multiple anomalies
-
Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr, 1979: 95: 395-398.
-
(1979)
J. Pediatr.
, vol.95
, pp. 395-398
-
-
Hall, B.D.1
-
2
-
-
0019425377
-
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
-
Pagon RA, Graham JM Jr, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr, 1981: 99: 223-227.
-
(1981)
J. Pediatr.
, vol.99
, pp. 223-227
-
-
Pagon, R.A.1
Graham J.M., Jr.2
Zonana, J.3
Yong, S.L.4
-
3
-
-
0031892284
-
CHARGE association: An update and review for the primary pediatrician
-
Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (Phila), 1998: 37: 159-173.
-
(1998)
Clin. Pediatr. (Phila)
, vol.37
, pp. 159-173
-
-
Blake, K.D.1
Davenport, S.L.2
Hall, B.D.3
Hefner, M.A.4
Pagon, R.A.5
Williams, M.S.6
-
4
-
-
0032513590
-
CHARGE syndrome: Report of 47 cases and review
-
Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D et al. CHARGE syndrome: report of 47 cases and review. Am J Med Genet, 1998: 76: 402-409.
-
(1998)
Am. J. Med. Genet.
, vol.76
, pp. 402-409
-
-
Tellier, A.L.1
Cormier-Daire, V.2
Abadie, V.3
Amiel, J.4
Sigaudy, S.5
Bonnet, D.6
-
5
-
-
0025955358
-
Apparent CHARGE association and chromosome anomaly: Chance or contiguous gene syndrome
-
Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. Am J Med Genet, 1991: 41: 246-250.
-
(1991)
Am. J. Med. Genet.
, vol.41
, pp. 246-250
-
-
Clementi, M.1
Tenconi, R.2
Turolla, L.3
Silvan, C.4
Bortotto, L.5
Artifoni, L.6
-
6
-
-
0035281648
-
A recognizable syndrome within CHARGE association: Hall-Hittner syndrome
-
Graham JM Jr. A recognizable syndrome within CHARGE association: Hall-Hittner syndrome. Am J Med Genet, 2001: 99: 120-123.
-
(2001)
Am. J. Med. Genet.
, vol.99
, pp. 120-123
-
-
Graham J.M., Jr.1
-
7
-
-
0003592020
-
An international system for human cytogenetic nomenclature (ISCN)
-
Karger., ed. Karger, USA
-
Mitelman. An international system for human cytogenetic nomenclature (ISCN). In: Karger., ed. Karger, 1995, USA. 76.
-
(1995)
, pp. 76
-
-
Mitelman, A.1
-
8
-
-
0034679911
-
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome
-
Tellier AL, Amiel J, Delezoide AL, Audollent S, Auge J, Esnault D et al. Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. Am J Med Genet, 2000: 93: 85-88.
-
(2000)
Am. J. Med Genet.
, vol.93
, pp. 85-88
-
-
Tellier, A.L.1
Amiel, J.2
Delezoide, A.L.3
Audollent, S.4
Auge, J.5
Esnault, D.6
-
9
-
-
0026495364
-
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
-
Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science, 1992: 258: 818-821.
-
(1992)
Science
, vol.258
, pp. 818-821
-
-
Kallioniemi, A.1
Kallioniemi, O.P.2
Sudar, D.3
Rutovitz, D.4
Gray, J.W.5
Waldman, F.6
-
10
-
-
0031791316
-
Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities
-
Lapierre JM, Cacheux V, Collot N, Da Silva F, Hervy N, Rivet D et al. Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities. Ann Genet, 1998: 41: 133-140.
-
(1998)
Ann. Genet.
, vol.41
, pp. 133-140
-
-
Lapierre, J.M.1
Cacheux, V.2
Collot, N.3
Da Silva, F.4
Hervy, N.5
Rivet, D.6
-
11
-
-
0028330771
-
t (12; 21): A new recurrent translocation in acute lymphoblastic leukemia
-
Romana SP, Le Coniat M, Berger R. t (12; 21): a new recurrent translocation in acute lymphoblastic leukemia. Genes Chromosomes Cancer, 1994: 9: 186-191.
-
(1994)
Genes Chromosomes Cancer
, vol.9
, pp. 186-191
-
-
Romana, S.P.1
Le Coniat, M.2
Berger, R.3
-
12
-
-
0032706534
-
CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19; 21) (q13.1; q22.3)
-
De Krijger RR, Mooy CM, Van Hemel JO, Sulkers EJ, Kros JM, Bartelings MM et al. CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19; 21) (q13.1; q22.3). Pediatr Dev Pathol, 1999: 2: 577-581.
-
(1999)
Pediatr. Dev. Pathol.
, vol.2
, pp. 577-581
-
-
De Krijger, R.R.1
Mooy, C.M.2
Van Hemel, J.O.3
Sulkers, E.J.4
Kros, J.M.5
Bartelings, M.M.6
-
13
-
-
0031799613
-
Deletion in chromosome region 22q11 in a child with CHARGE association
-
Devriendt K, Swillen A, Fryns JP. Deletion in chromosome region 22q11 in a child with CHARGE association. Clin Genet, 1998: 53: 408-410.
-
(1998)
Clin. Genet.
, vol.53
, pp. 408-410
-
-
Devriendt, K.1
Swillen, A.2
Fryns, J.P.3
-
14
-
-
0029173631
-
Trisomy 18 in a patient with CHARGE association
-
Lee WT, Hou JW, Yau KI, Wang TR. Trisomy 18 in a patient with CHARGE association. J Formos Med Assoc, 1995: 94: 60-62.
-
(1995)
J. Formos Med. Assoc.
, vol.94
, pp. 60-62
-
-
Lee, W.T.1
Hou, J.W.2
Yau, K.I.3
Wang, T.R.4
-
15
-
-
0034543145
-
CHARGE association in a child with de Novo chromosomal aberration 46, X,der (X) t (X; 2) (p22.1; q33) detected by spectral karyotyping
-
Year?
-
Lev D, Nakar O, Bar-Am I, Zudik A, Watemberg N, Finkelstein S et al. CHARGE association in a child with de Novo chromosomal aberration 46, X,der (X) t (X; 2) (p22.1; q33) detected by spectral karyotyping. J Medical Genet, Year?: 37: E47.
-
J. Medical Genet.
, vol.37
-
-
Lev, D.1
Nakar, O.2
Bar-Am, I.3
Zudik, A.4
Watemberg, N.5
Finkelstein, S.6
-
16
-
-
0029014844
-
CHARGE association in a child with de novo inverted duplication (14) (q22 - >q24.3)
-
North KN, Wu BL, Cao BN, Whiteman DA, Korf BR. Whiteman DA, Korf BR. CHARGE association in a child with de novo inverted duplication (14) (q22 - >q24.3). Am J Med Genet, 1995: 57: 610-614.
-
(1995)
Am. J. Med Genet.
, vol.57
, pp. 610-614
-
-
North, K.N.1
Wu, B.L.2
Cao, B.N.3
Whiteman, D.A.4
Korf, B.R.5
Whiteman, D.A.6
Korf, B.R.7
-
17
-
-
0031005946
-
A patient with interstitial deletion of the short arm of chromosome 3 (pter - >p21.2: p12 - >qter) and a CHARGE-like phenotype
-
Wieczorek D, Bolt J, Schwechheimer K, Gillessen-Kaesbach G. A patient with interstitial deletion of the short arm of chromosome 3 (pter - >p21.2: p12 - >qter) and a CHARGE-like phenotype. Am J Med Genet, 1997: 69: 413-417.
-
(1997)
Am. J. Med. Genet.
, vol.69
, pp. 413-417
-
-
Wieczorek, D.1
Bolt, J.2
Schwechheimer, K.3
Gillessen-Kaesbach, G.4
-
18
-
-
0025968760
-
Balanced t (6;8) (6p8p; 6q8q) and the CHARGE association
-
Hurst JA, Meinecke P, Baraitser M. Balanced t (6;8) (6p8p; 6q8q) and the CHARGE association. J Med Genet, 1991: 28: 54-55.
-
(1991)
J. Med. Genet.
, vol.28
, pp. 54-55
-
-
Hurst, J.A.1
Meinecke, P.2
Baraitser, M.3
-
19
-
-
0035281524
-
2001 CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t (2;7) (p14; q21.11)
-
Martin DM, Sheldon S, Gorski JL 2001 CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t (2;7) (p14; q21.11). Am J Med Genet, 2000: 99: 115-119.
-
(2000)
Am. J. Med. Genet.
, vol.99
, pp. 115-119
-
-
Martin, D.M.1
Sheldon, S.2
Gorski, J.L.3
-
20
-
-
0017228411
-
The 9p- syndrome
-
Alfi OS, Donnell GN, Allderdice PW, Derencsenyi A. The 9p- syndrome. Ann Genet, 1976: 19: 11-16.
-
(1976)
Ann. Genet.
, vol.19
, pp. 11-16
-
-
Alfi, O.S.1
Donnell, G.N.2
Allderdice, P.W.3
Derencsenyi, A.4
-
21
-
-
0023734622
-
Eleven new cases of del (9p) and features from 80 cases
-
Huret JL, Leonard C, Forestier B, Rethore MO, Lejeune J. Eleven new cases of del (9p) and features from 80 cases. J Med Genet, 1988: 25: 741-749.
-
(1988)
J. Med. Genet.
, vol.25
, pp. 741-749
-
-
Huret, J.L.1
Leonard, C.2
Forestier, B.3
Rethore, M.O.4
Lejeune, J.5
-
22
-
-
0031741131
-
A further case of choanal atresia in the deletion (9p) syndrome
-
[letter]
-
Shashi V, Berry D, Stamper TH, Pettenati M. A further case of choanal atresia in the deletion (9p) syndrome [letter]. Am J Med Genet, 1998: 80: 440.
-
(1998)
Am. J. Med. Genet.
, vol.80
, pp. 440
-
-
Shashi, V.1
Berry, D.2
Stamper, T.H.3
Pettenati, M.4
-
23
-
-
0028011886
-
Choanal atresia in a patient with the deletion (9p) syndrome
-
Shashi V, Golden WL, Fryburg JS. Choanal atresia in a patient with the deletion (9p) syndrome. Am J Med Genet, 1994: 49: 88-90.
-
(1994)
Am. J. Med. Genet.
, vol.49
, pp. 88-90
-
-
Shashi, V.1
Golden, W.L.2
Fryburg, J.S.3
-
24
-
-
0031002901
-
Epidemiology of choanal atresia with special reference to the CHARGE association
-
Harris J, Robert E, Kallen B. Epidemiology of choanal atresia with special reference to the CHARGE association. Pediatrics, 1997: 99: 363-367.
-
(1997)
Pediatrics,
, vol.99
, pp. 363-367
-
-
Harris, J.1
Robert, E.2
Kallen, B.3
-
25
-
-
85142954725
-
Catalogue of unbalanced chromosome aberrations in man
-
Berlin, New York: de Gruyter
-
Schinzel A. Catalogue of unbalanced chromosome aberrations in man. Berlin, New York: de Gruyter, 1983: 254-259.
-
(1983)
, pp. 254-259
-
-
Schinzel, A.1
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