-
1
-
-
14344258705
-
Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association
-
Arrington CB, Cowley BC, Nightingale DR, Zhou H, Brothman AR, Viskochil DH. 2005. Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association. Am J Med Genet Part A 133A:326-330.
-
(2005)
Am J Med Genet Part A
, vol.133 A
, pp. 326-330
-
-
Arrington, C.B.1
Cowley, B.C.2
Nightingale, D.R.3
Zhou, H.4
Brothman, A.R.5
Viskochil, D.H.6
-
2
-
-
0031892284
-
CHARGE association: An update and review for the primary pediatrician
-
Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, Lin AE, Graham JM Jr. 1998. CHARGE association: An update and review for the primary pediatrician. Clin Pediatr (Phila) 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
Lin, A.E.7
Graham Jr., J.M.8
-
3
-
-
24344438085
-
Variation in IRF6 contributes to nonsyndromic cleft lip and palate
-
Blanton SH, Cortez A, Stal S, Mulliken JB, Finnell RH, Hecht JT. 2005. Variation in IRF6 contributes to nonsyndromic cleft lip and palate. Am J Med Genet Part A 137A:259-262.
-
(2005)
Am J Med Genet Part A
, vol.137 A
, pp. 259-262
-
-
Blanton, S.H.1
Cortez, A.2
Stal, S.3
Mulliken, J.B.4
Finnell, R.H.5
Hecht, J.T.6
-
4
-
-
27944478666
-
Multiple mutations in mouse Chd7 provide models for CHARGE syndrome
-
Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, Steel KP. 2005. Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum Mol Genet 14:3463-3476.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3463-3476
-
-
Bosman, E.A.1
Penn, A.C.2
Ambrose, J.C.3
Kettleborough, R.4
Stemple, D.L.5
Steel, K.P.6
-
5
-
-
26444571758
-
An evolutionary framework for common diseases: The ancestral- susceptibility model
-
Di Rienzo A, Hudson RR. 2005. An evolutionary framework for common diseases: The ancestral-susceptibility model. Trends Genet 21:596-601.
-
(2005)
Trends Genet
, vol.21
, pp. 596-601
-
-
Di Rienzo, A.1
Hudson, R.R.2
-
6
-
-
10744227687
-
Identification of SATB2 as the cleft palate gene on 2q32-q33
-
FitzPatrick DR, Carr LM, McLaren L, Leek JP, Wightman P, Williamson K, Gautier P, McGill N, Hayward C, Firth H, Markham AF, Fantes JA, Bonthron DT. 2003. Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum Mol Genet 12:2491-2501.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2491-2501
-
-
Fitzpatrick, D.R.1
Carr, L.M.2
McLaren, L.3
Leek, J.P.4
Wightman, P.5
Williamson, K.6
Gautier, P.7
McGill, N.8
Hayward, C.9
Firth, H.10
Markham, A.F.11
Fantes, J.A.12
Bonthron, D.T.13
-
7
-
-
0018348787
-
Choanal atresia and associated multiple anomalies
-
Hall BD. 1979. Choanal atresia and associated multiple anomalies. J Pediatr 95:395-398.
-
(1979)
J Pediatr
, vol.95
, pp. 395-398
-
-
Hall, B.D.1
-
8
-
-
0018350904
-
Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation - A syndrome
-
Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ. 1979. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation - a syndrome. J Pediatr Ophthalmol Strabismus 16:122-128.
-
(1979)
J Pediatr Ophthalmol Strabismus
, vol.16
, pp. 122-128
-
-
Hittner, H.M.1
Hirsch, N.J.2
Kreh, G.M.3
Rudolph, A.J.4
-
9
-
-
14344251519
-
An epidemilogical analysis of CHARGE syndrome: Preliminary results from a Canadian study
-
Issekutz KA, Graham JM Jr, Prasad C, Smith IM, Blake KD. 2005. An epidemilogical analysis of CHARGE syndrome: Preliminary results from a Canadian study. Am J Med Genet Part A 133A:309-317.
-
(2005)
Am J Med Genet Part A
, vol.133 A
, pp. 309-317
-
-
Issekutz, K.A.1
Graham Jr., J.M.2
Prasad, C.3
Smith, I.M.4
Blake, K.D.5
-
10
-
-
0038545785
-
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate
-
Jezewski PA, Vieira AR, Nishimura C, Ludwig B, Johnson M, O'Brien SE, Daack-Hirsch S, Schultz RE, Weber A, Nepomucena B, Romitti PA, Christensen K, Orioli IM, Castilla EE, Machida J, Natsume N, Murray JC. 2003. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet 40:399-407.
-
(2003)
J Med Genet
, vol.40
, pp. 399-407
-
-
Jezewski, P.A.1
Vieira, A.R.2
Nishimura, C.3
Ludwig, B.4
Johnson, M.5
O'Brien, S.E.6
Daack-Hirsch, S.7
Schultz, R.E.8
Weber, A.9
Nepomucena, B.10
Romitti, P.A.11
Christensen, K.12
Orioli, I.M.13
Castilla, E.E.14
Machida, J.15
Natsume, N.16
Murray, J.C.17
-
11
-
-
27944433292
-
Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins
-
Epub ahead of print
-
Johnson DS, Morrison N, Grant L, Turner T, Fantes J, Connor JM, Murday VA. 2005. Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. J Med Genet [Epub ahead of print].
-
(2005)
J Med Genet
-
-
Johnson, D.S.1
Morrison, N.2
Grant, L.3
Turner, T.4
Fantes, J.5
Connor, J.M.6
Murday, V.A.7
-
12
-
-
27944484001
-
CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene
-
Epub ahead of print
-
Jongmans M, Admiraal R, van der Donk K, Vissers L, Baas A, Kapusta L, van Hagen A, Donnai D, de Ravel T, Veltman J, Geurts van Kessel A, de Vries B, Brunner H, Hoefsloot L, van Ravenswaaij C. 2005. CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene. J Med Genet [Epub ahead of print].
-
(2005)
J Med Genet
-
-
Jongmans, M.1
Admiraal, R.2
Van Der Donk, K.3
Vissers, L.4
Baas, A.5
Kapusta, L.6
Van Hagen, A.7
Donnai, D.8
De Ravel, T.9
Veltman, J.10
Van Geurts Kessel, A.11
De Vries, B.12
Brunner, H.13
Hoefsloot, L.14
Van Ravenswaaij, C.15
-
13
-
-
19444374276
-
Orofacial clefting: Recent insights into a complex trait
-
Jugessur A, Murray JC. 2005. Orofacial clefting: Recent insights into a complex trait. Curr Opin Genet Dev 15:270-278.
-
(2005)
Curr Opin Genet Dev
, vol.15
, pp. 270-278
-
-
Jugessur, A.1
Murray, J.C.2
-
14
-
-
0033814928
-
Implementing a unified approach to family-based tests of association
-
Laird NM, Horvath S, Xu X. 2000. Implementing a unified approach to family-based tests of association. Genet Epidemiol 19:S36-S42.
-
(2000)
Genet Epidemiol
, vol.19
-
-
Laird, N.M.1
Horvath, S.2
Xu, X.3
-
15
-
-
0032231873
-
Association of MSX1 and TGFB3 with nonsyndromic clefting in humans
-
Lidral AC, Romitti PA, Basart AM, Doetschman T, Leysens NJ, Daack-Hirsch S, Semina EV, Johnson LR, Machida J, Burds A, Parnell TJ, Rubenstein JL, Murray JC. 1998. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am J Hum Genet 63057-568.
-
(1998)
Am J Hum Genet
, pp. 63057-63568
-
-
Lidral, A.C.1
Romitti, P.A.2
Basart, A.M.3
Doetschman, T.4
Leysens, N.J.5
Daack-Hirsch, S.6
Semina, E.V.7
Johnson, L.R.8
Machida, J.9
Burds, A.10
Parnell, T.J.11
Rubenstein, J.L.12
Murray, J.C.13
-
16
-
-
0028115695
-
Properties of associations: Identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations
-
Lubinsky MS. 1994. Properties of associations: Identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations. Am J Med Genet 49:21-25.
-
(1994)
Am J Med Genet
, vol.49
, pp. 21-25
-
-
Lubinsky, M.S.1
-
17
-
-
3242672318
-
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35
-
Marazita ML, Murray JC, Lidral AC, Arcos-Burgos M, Cooper ME, Goldstein T, Maher BS, Daack-Hirsch S, Schultz R, Mansilla MA, Field LL, Liu YE, Prescott N, Malcolm S, Winter R, Ray A, Moreno L, Valencia C, Neiswanger K, Wyszynski DF, Bailey-Wilson JE, Albacha-Hejazi H, Beaty TH, McIntosh I, Hetmanski JB, Tuncbilek G, Edwards M, Harkin L, Scott R, Roddick LG. 2004. Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet 75:161-173.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 161-173
-
-
Marazita, M.L.1
Murray, J.C.2
Lidral, A.C.3
Arcos-Burgos, M.4
Cooper, M.E.5
Goldstein, T.6
Maher, B.S.7
Daack-Hirsch, S.8
Schultz, R.9
Mansilla, M.A.10
Field, L.L.11
Liu, Y.E.12
Prescott, N.13
Malcolm, S.14
Winter, R.15
Ray, A.16
Moreno, L.17
Valencia, C.18
Neiswanger, K.19
Wyszynski, D.F.20
Bailey-Wilson, J.E.21
Albacha-Hejazi, H.22
Beaty, T.H.23
McIntosh, I.24
Hetmanski, J.B.25
Tuncbilek, G.26
Edwards, M.27
Harkin, L.28
Scott, R.29
Roddick, L.G.30
more..
-
18
-
-
33645128921
-
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
-
Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clement-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruau C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Jove N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T. 2006. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 43:211-317.
-
(2006)
J Med Genet
, vol.43
, pp. 211-317
-
-
Sanlaville, D.1
Etchevers, H.C.2
Gonzales, M.3
Martinovic, J.4
Clement-Ziza, M.5
Delezoide, A.L.6
Aubry, M.C.7
Pelet, A.8
Chemouny, S.9
Cruau, C.10
Audollent, S.11
Esculpavit, C.12
Goudefroye, G.13
Ozilou, C.14
Fredouille, C.15
Jove, N.16
Morichon-Delvallez, N.17
Dumez, Y.18
Weissenbach, J.19
Munnich, A.20
Amiel, J.21
Encha-Razavi, F.22
Lyonnet, S.23
Vekemans, M.24
Attie-Bitach, T.25
more..
-
19
-
-
11144322225
-
Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population
-
Scapoli L, Palmieri A, Martinelli M, Pezzetti F, Carinci P, Tognon M, Carinci F. 2005. Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet 76:180-183.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 180-183
-
-
Scapoli, L.1
Palmieri, A.2
Martinelli, M.3
Pezzetti, F.4
Carinci, P.5
Tognon, M.6
Carinci, F.7
-
20
-
-
0036908801
-
Multiplex relative risk and estimation of the number of loci underlying an inherited disease
-
Schliekelman P, Slatkin M. 2002. Multiplex relative risk and estimation of the number of loci underlying an inherited disease. Am J Hum Genet 71:1369-1385.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1369-1385
-
-
Schliekelman, P.1
Slatkin, M.2
-
21
-
-
20044380722
-
CHARGE association in Sweden: Malformations and functional deficits
-
Stromland K, Sjogreen L, Johansson M, Ekman Joelsson BM, Miller M, Danielsson S, Bilistedt E, Gillberg C, Jacobsson C, Norinder JA, Granstrom G. 2005. CHARGE association in Sweden: Malformations and functional deficits. Am J Med Genet Part A 133A:331-339.
-
(2005)
Am J Med Genet Part A
, vol.133 A
, pp. 331-339
-
-
Stromland, K.1
Sjogreen, L.2
Johansson, M.3
Ekman Joelsson, B.M.4
Miller, M.5
Danielsson, S.6
Bilistedt, E.7
Gillberg, C.8
Jacobsson, C.9
Norinder, J.A.10
Granstrom, G.11
-
22
-
-
2642522952
-
In a Vietnamese population, MSX1 variants contribute to cleft lip and palate
-
Suzuki Y, Jezewski PA, Machida J, Watanabe Y, Shi M, Cooper ME, Viet le T, Nguyen TD, Hai H, Natsume N, Shimozato K, Marazita ML, Murray JC. 2004. In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet Med 6:117-125.
-
(2004)
Genet Med
, vol.6
, pp. 117-125
-
-
Suzuki, Y.1
Jezewski, P.A.2
Machida, J.3
Watanabe, Y.4
Shi, M.5
Cooper, M.E.6
Viet Le, T.7
Nguyen, T.D.8
Hai, H.9
Natsume, N.10
Shimozato, K.11
Marazita, M.L.12
Murray, J.C.13
-
23
-
-
14344262552
-
Updated diagnostic criteria for CHARGE syndrome: A proposal
-
Verloes A. 2005. Updated diagnostic criteria for CHARGE syndrome: A proposal. Am J Med Genet Part A 133A:306-308.
-
(2005)
Am J Med Genet Part A
, vol.133 A
, pp. 306-308
-
-
Verloes, A.1
-
24
-
-
34547516140
-
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate
-
Epub ahead of print
-
Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Felix TM, Rahimov F, Harrington J, Schultz RR, Watanabe Y, Johnson M, Fang J. O'brien SE, Orioli IM, Castilla EE, Fitzpatrick DR, Jiang R, Marazita ML, Murray JC. 2005. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet 1:e64 [Epub ahead of print].
-
(2005)
PLoS Genet
, vol.1
-
-
Vieira, A.R.1
Avila, J.R.2
Daack-Hirsch, S.3
Dragan, E.4
Felix, T.M.5
Rahimov, F.6
Harrington, J.7
Schultz, R.R.8
Watanabe, Y.9
Johnson, M.10
O'Brien Se, F.J.11
Orioli, I.M.12
Castilla, E.E.13
Fitzpatrick, D.R.14
Jiang, R.15
Marazita, M.L.16
Murray, J.C.17
-
25
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG. 2004. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955-957.
-
(2004)
Nat Genet
, vol.36
, pp. 955-957
-
-
Vissers, L.E.1
Van Ravenswaaij, C.M.2
Admiraal, R.3
Hurst, J.A.4
De Vries, B.B.5
Janssen, I.M.6
Van Der Vliet, W.A.7
Huys, E.H.8
De Jong, P.J.9
Hamel, B.C.10
Schoenmakers, E.F.11
Brunner, H.G.12
Veltman, J.A.13
Van Kessel, A.G.14
-
26
-
-
4143115809
-
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
-
Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu YE, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC. 2004. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351:769-780.
-
(2004)
N Engl J Med
, vol.351
, pp. 769-780
-
-
Zucchero, T.M.1
Cooper, M.E.2
Maher, B.S.3
Daack-Hirsch, S.4
Nepomuceno, B.5
Ribeiro, L.6
Caprau, D.7
Christensen, K.8
Suzuki, Y.9
Machida, J.10
Natsume, N.11
Yoshiura, K.12
Vieira, A.R.13
Orioli, I.M.14
Castilla, E.E.15
Moreno, L.16
Arcos-Burgos, M.17
Lidral, A.C.18
Field, L.L.19
Liu, Y.E.20
Ray, A.21
Goldstein, T.H.22
Schultz, R.E.23
Shi, M.24
Johnson, M.K.25
Kondo, S.26
Schutte, B.C.27
Marazita, M.L.28
Murray, J.C.29
more..
|