-
1
-
-
11844260059
-
Fryn's syndrome with Hirschsprung disease: Support for possible neural crest involvement
-
Alkuraya FS, Lin AE, Irons MB, Kimonis VE (2005) Fryn's syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet A 132:226-230
-
(2005)
Am J Med Genet A
, vol.132
, pp. 226-230
-
-
Alkuraya, F.S.1
Lin, A.E.2
Irons, M.B.3
Kimonis, V.E.4
-
2
-
-
0034764984
-
Hirschsprung disease, associated syndromes, and genetics: A review
-
Amiel J, Lyonnet S (2001) Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 38:729-739
-
(2001)
J Med Genet
, vol.38
, pp. 729-739
-
-
Amiel, J.1
Lyonnet, S.2
-
3
-
-
0027219581
-
A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10
-
Angrist M, Kauffman E, Slaugenhaupt S, et al (1993) A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet 4:351-356
-
(1993)
Nat Genet
, vol.4
, pp. 351-356
-
-
Angrist, M.1
Kauffman, E.2
Slaugenhaupt, S.3
-
4
-
-
0030292383
-
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
-
Angrist M, Bolk S, Halushka M, Lapchak P, Chakravarti A (1996) Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient, Nat Genet 14:341-344
-
(1996)
Nat Genet
, vol.14
, pp. 341-344
-
-
Angrist, M.1
Bolk, S.2
Halushka, M.3
Lapchak, P.4
Chakravarti, A.5
-
5
-
-
0030070810
-
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from non-inbred populations
-
Auricchio A, Casari G, Stalano A, Ballabio A (1996) Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from non-inbred populations, Hum Mol Genet 5:351-354
-
(1996)
Hum Mol Genet
, vol.5
, pp. 351-354
-
-
Auricchio, A.1
Casari, G.2
Stalano, A.3
Ballabio, A.4
-
6
-
-
0033361767
-
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease
-
Auricchio A, Griseri P, Carpentieri ML, Betsos N, Staiano A, Tozzi A, Priolo M, Thompson H, Bocciardi R, Romeo G, Ballabio A, Ceccherini I (1999) Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet 64:1216-1221
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1216-1221
-
-
Auricchio, A.1
Griseri, P.2
Carpentieri, M.L.3
Betsos, N.4
Staiano, A.5
Tozzi, A.6
Priolo, M.7
Thompson, H.8
Bocciardi, R.9
Romeo, G.10
Ballabio, A.11
Ceccherini, I.12
-
7
-
-
0032717943
-
Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease
-
Aurora P, Wallis CE (1999) Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. Clin Dysmorphol 8:259-263
-
(1999)
Clin Dysmorphol
, vol.8
, pp. 259-263
-
-
Aurora, P.1
Wallis, C.E.2
-
8
-
-
0021344213
-
Congenital megacolon associated with familial dysautonomia
-
Azizi E, Berlowitz I, Vinograd I, Reif R, Mundel G (1984) Congenital megacolon associated with familial dysautonomia. Eur J Pediatr 142:68-69
-
(1984)
Eur J Pediatr
, vol.142
, pp. 68-69
-
-
Azizi, E.1
Berlowitz, I.2
Vinograd, I.3
Reif, R.4
Mundel, G.5
-
11
-
-
0022448783
-
"Partial trisomy 21 and 11" due to a paternal 11:22 translocation associated with Hirschsprung's disease
-
Beedgen B, Nutzenadel W, Querfeld U, Weiss-Wichert P (1986) "Partial trisomy 21 and 11" due to a paternal 11:22 translocation associated with Hirschsprung's disease. Eur J Pediatr 145:229-232
-
(1986)
Eur J Pediatr
, vol.145
, pp. 229-232
-
-
Beedgen, B.1
Nutzenadel, W.2
Querfeld, U.3
Weiss-Wichert, P.4
-
12
-
-
12644284522
-
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease
-
Bidaud C, Salomon R, van Camp G, Pelet A, Attie T, Eng C, Bonduelle M, Amiel J, Nihoul-Fekete C, Willems PJ, Munnich A, Lyonnet S (1997) Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. Eur J Hum Genet 5:247-251
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 247-251
-
-
Bidaud, C.1
Salomon, R.2
Van Camp, G.3
Pelet, A.4
Attie, T.5
Eng, C.6
Bonduelle, M.7
Amiel, J.8
Nihoul-Fekete, C.9
Willems, P.J.10
Munnich, A.11
Lyonnet, S.12
-
13
-
-
0038352261
-
Coupling genomics and human genetics to delineate basic mechanisms of development
-
Biesecker LG (2002) Coupling genomics and human genetics to delineate basic mechanisms of development. Genet Med 4[6 Suppl]:39S-42S
-
(2002)
Genet Med
, vol.4
, Issue.6 SUPPL.
-
-
Biesecker, L.G.1
-
14
-
-
84981776731
-
Family study of Hirschsprung's disease
-
Bodian M, Carter CO (1963) Family study of Hirschsprung's disease. Ann Hum Genet 26:261-271
-
(1963)
Ann Hum Genet
, vol.26
, pp. 261-271
-
-
Bodian, M.1
Carter, C.O.2
-
15
-
-
0016169528
-
The neurocristopathies, a unifying concept of disease arising in neural crest maldevelopment
-
Bolande RP (1974) The neurocristopathies, a unifying concept of disease arising in neural crest maldevelopment. Hum Pathol 5:409-429
-
(1974)
Hum Pathol
, vol.5
, pp. 409-429
-
-
Bolande, R.P.1
-
16
-
-
0034602646
-
A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
-
Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Chakravarti A (2000) A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A 97:268-273
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 268-273
-
-
Bolk, S.1
Pelet, A.2
Hofstra, R.M.3
Angrist, M.4
Salomon, R.5
Croaker, D.6
Buys, C.H.7
Lyonnet, S.8
Chakravarti, A.9
-
17
-
-
18544365991
-
Segregation at three loci explains familial and population risk in Hirschsprung disease
-
Bolk-Gabriel S, Salomon R, Pelet A, et al (2002) Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 1:89-93
-
(2002)
Nat Genet
, vol.1
, pp. 89-93
-
-
Bolk-Gabriel, S.1
Salomon, R.2
Pelet, A.3
-
18
-
-
0036488058
-
RMRP gene sequence analysis confirms a cartilagehair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms
-
Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A (2002) RMRP gene sequence analysis confirms a cartilagehair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet 61:146-151
-
(2002)
Clin Genet
, vol.61
, pp. 146-151
-
-
Bonafe, L.1
Schmitt, K.2
Eich, G.3
Giedion, A.4
Superti-Furga, A.5
-
19
-
-
0032848746
-
A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies
-
Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N, Warburg M, Hennekam RC, Read AP, Wegner M, Goossens M (1999) A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. Hum Mol Genet 8:1785-1789
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1785-1789
-
-
Bondurand, N.1
Kuhlbrodt, K.2
Pingault, V.3
Enderich, J.4
Sajus, M.5
Tommerup, N.6
Warburg, M.7
Hennekam, R.C.8
Read, A.P.9
Wegner, M.10
Goossens, M.11
-
20
-
-
0025944896
-
A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus
-
Bottani A, Xie YG, Binkert F, Schnizel A (1991) A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus. Hum Genet 87:748-750
-
(1991)
Hum Genet
, vol.87
, pp. 748-750
-
-
Bottani, A.1
Xie, Y.G.2
Binkert, F.3
Schnizel, A.4
-
22
-
-
0033036664
-
A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)
-
Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH, Meijers C, Hofstra RM (1999) A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). J Med Genet 36:485-489
-
(1999)
J Med Genet
, vol.36
, pp. 485-489
-
-
Brooks, A.S.1
Breuning, M.H.2
Osinga, J.3
Smagt, J.J.4
Catsman, C.E.5
Buys, C.H.6
Meijers, C.7
Hofstra, R.M.8
-
23
-
-
0007710387
-
Disorders and congenital malformations associated with Hirschsprung's disease
-
Holschneider AM, Puri P (eds), 3rd edn. Harwood, Amsterdam
-
Brown RA, Cywes C (2000) Disorders and congenital malformations associated with Hirschsprung's disease. In: Holschneider AM, Puri P (eds) Hirschsprung's disease, 3rd edn. Harwood, Amsterdam, pp 137-145
-
(2000)
Hirschsprung's Disease
, pp. 137-145
-
-
Brown, R.A.1
Cywes, C.2
-
24
-
-
0021997075
-
Total intestinal aganglionosis
-
Caniano DA, Ormsbee HS, Polito W, Sun CC, Baronne FC, Hill JL (1985) Total intestinal aganglionosis. J Pediatr Surg 20:456-460
-
(1985)
J Pediatr Surg
, vol.20
, pp. 456-460
-
-
Caniano, D.A.1
Ormsbee, H.S.2
Polito, W.3
Sun, C.C.4
Baronne, F.C.5
Hill, J.L.6
-
25
-
-
0025269530
-
Management of Hirschsprung's disease in children with trisomy 21
-
Caniano DA, Teitelbaum DH, Qualman SJ (1990) Management of Hirschsprung's disease in children with trisomy 21. Am J Surg 159:402-404
-
(1990)
Am J Surg
, vol.159
, pp. 402-404
-
-
Caniano, D.A.1
Teitelbaum, D.H.2
Qualman, S.J.3
-
26
-
-
0036788576
-
Genome-wide association study as well as the study of mouse models help to identify the interaction between RET and EDNRB pathways in Hirschsprung disease
-
Carrasquillo MM, McCallion AS, Puffenberger EG, Kaschuk CS, No N, Chakravarti A (2002) Genome-wide association study as well as the study of mouse models help to identify the interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 32:237-244
-
(2002)
Nat Genet
, vol.32
, pp. 237-244
-
-
Carrasquillo, M.M.1
McCallion, A.S.2
Puffenberger, E.G.3
Kaschuk, C.S.4
No, N.5
Chakravarti, A.6
-
27
-
-
0025674343
-
Aganglionosis: Associated anomalies
-
Cass D (1990) Aganglionosis: associated anomalies. J Paediatr Child Health 26:351-354
-
(1990)
J Paediatr Child Health
, vol.26
, pp. 351-354
-
-
Cass, D.1
-
28
-
-
0027102791
-
Association of Hirschsprung's disease and Mullerian inhibiting substance deficiency
-
Cass DT, Hutson J (1992) Association of Hirschsprung's disease and Mullerian inhibiting substance deficiency. J Pediatr Surg 27:1596-1599
-
(1992)
J Pediatr Surg
, vol.27
, pp. 1596-1599
-
-
Cass, D.T.1
Hutson, J.2
-
29
-
-
0027965639
-
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene
-
Ceccherini I, Hofstra RM, Luo Y, et al (1994) DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene 9:3025-3029
-
(1994)
Oncogene
, vol.9
, pp. 3025-3029
-
-
Ceccherini, I.1
Hofstra, R.M.2
Luo, Y.3
-
30
-
-
0030029691
-
Endothelin receptor-mediated signaling in Hirschsprung disease
-
Chakravarti A (1996) Endothelin receptor-mediated signaling in Hirschsprung disease. Hum Mol Genet 5:303-307
-
(1996)
Hum Mol Genet
, vol.5
, pp. 303-307
-
-
Chakravarti, A.1
-
31
-
-
0141988843
-
Analysis of SOX10 mutations identified in Waardenburg- Hirschsprung patients: Differential effects on target gene regulation
-
Chan KK, Wong CK, Lui VC, Tam PK, Sham MH (2003) Analysis of SOX10 mutations identified in Waardenburg- Hirschsprung patients: differential effects on target gene regulation. J Cell Biochem 90:573-585
-
(2003)
J Cell Biochem
, vol.90
, pp. 573-585
-
-
Chan, K.K.1
Wong, C.K.2
Lui, V.C.3
Tam, P.K.4
Sham, M.H.5
-
32
-
-
12944331415
-
Imperforate anus, Hirschsprung's disease, and trisomy 21: A rare combination
-
Clarke SA, Van der Avoirt A (1999) Imperforate anus, Hirschsprung's disease, and trisomy 21: a rare combination. J Pediatr Surg 34:1874
-
(1999)
J Pediatr Surg
, vol.34
, pp. 1874
-
-
Clarke, S.A.1
Van Der Avoirt, A.2
-
33
-
-
0024423140
-
Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome
-
Clausen N, Andersson P, Tommerup N (1989) Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome. Acta Paediatr Scand 78:736-741
-
(1989)
Acta Paediatr Scand
, vol.78
, pp. 736-741
-
-
Clausen, N.1
Andersson, P.2
Tommerup, N.3
-
34
-
-
0019922754
-
Hirschsprung's disease in a kindred: A possible clue to the genetics of the disease
-
Cohen I, Gadd MA (1982) Hirschsprung's disease in a kindred: a possible clue to the genetics of the disease. J Pediatr Surg 17:632-634
-
(1982)
J Pediatr Surg
, vol.17
, pp. 632-634
-
-
Cohen, I.1
Gadd, M.A.2
-
35
-
-
4944249448
-
Extensive Hirschsprung's disease associated with intestinal malrotation
-
Corsois L, Boman F, Sfeir R, Mention K, Michaud L, Poddevin F, Mestdagh P, Gottrand F (2004) Extensive Hirschsprung's disease associated with intestinal malrotation. Arch Pediatr 11:1205-1208
-
(2004)
Arch Pediatr
, vol.11
, pp. 1205-1208
-
-
Corsois, L.1
Boman, F.2
Sfeir, R.3
Mention, K.4
Michaud, L.5
Poddevin, F.6
Mestdagh, P.7
Gottrand, F.8
-
36
-
-
14444271831
-
Congenital central hypoventilation syndrome and Hirschsprung's disease
-
Croaker GD, Shi E, Simpson E, Cartmill T, Cass DT (1998) Congenital central hypoventilation syndrome and Hirschsprung's disease. Arch Dis Child 78:316-322
-
(1998)
Arch Dis Child
, vol.78
, pp. 316-322
-
-
Croaker, G.D.1
Shi, E.2
Simpson, E.3
Cartmill, T.4
Cass, D.T.5
-
38
-
-
0035465378
-
Hirschsprung's disease, associated rare congenital anomalies
-
Das K, Alladi A, Kini U, Babu MK, D'Cruz AJ (2001) Hirschsprung's disease, associated rare congenital anomalies. Indian J Pediatr 68:835-837
-
(2001)
Indian J Pediatr
, vol.68
, pp. 835-837
-
-
Das, K.1
Alladi, A.2
Kini, U.3
Babu, M.K.4
D'cruz, A.J.5
-
39
-
-
0019997678
-
Hirschsprung's disease and malrotation of the mid-gut. An uncommon association
-
de Bruyn R, Hall CM, Spitz L (1982) Hirschsprung's disease and malrotation of the mid-gut. An uncommon association. Br J Radiol 55:554-557
-
(1982)
Br J Radiol
, vol.55
, pp. 554-557
-
-
De Bruyn, R.1
Hall, C.M.2
Spitz, L.3
-
40
-
-
7344244286
-
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease
-
Doray B, Salomon R, Amiel J, et al (1998) Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease, Hum Mol Genet 7:1449-1452
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1449-1452
-
-
Doray, B.1
Salomon, R.2
Amiel, J.3
-
41
-
-
0027423913
-
Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families
-
Dudin AA, Rambaud-Cousson A (1993) Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families. Am J Med Genet 47:1083-1085
-
(1993)
Am J Med Genet
, vol.47
, pp. 1083-1085
-
-
Dudin, A.A.1
Rambaud-Cousson, A.2
-
42
-
-
0027972513
-
Mutations of the RET proto-oncogene in Hirschsprung's disease
-
Edery P, Lyonnet S, Mulligan L, et al (1994) Mutations of the RET proto-oncogene in Hirschsprung's disease, Nature 367:378-380
-
(1994)
Nature
, vol.367
, pp. 378-380
-
-
Edery, P.1
Lyonnet, S.2
Mulligan, L.3
-
43
-
-
0006457459
-
Mutation of the endothelin-3 gene in the Waardenburg- Hirschsprung disease (Shah-Waardenburg syndrome)
-
Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S (1996) Mutation of the endothelin-3 gene in the Waardenburg- Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 12:442-444
-
(1996)
Nat Genet
, vol.12
, pp. 442-444
-
-
Edery, P.1
Attie, T.2
Amiel, J.3
Pelet, A.4
Eng, C.5
Hofstra, R.M.6
Martelli, H.7
Bidaud, C.8
Munnich, A.9
Lyonnet, S.10
-
45
-
-
0027374088
-
Familial Hirschsprung's disease: 20 cases in 12 kindreds
-
Engum SA, Petrites M, Rescorla FJ, Grosfeld JL, Morrison AM, Engles D (1993) Familial Hirschsprung's disease: 20 cases in 12 kindreds. J Pediatr Surg 28:1286-1290
-
(1993)
J Pediatr Surg
, vol.28
, pp. 1286-1290
-
-
Engum, S.A.1
Petrites, M.2
Rescorla, F.J.3
Grosfeld, J.L.4
Morrison, A.M.5
Engles, D.6
-
46
-
-
0036011260
-
Expression of the SMADIP1 gene during early human development
-
Espinosa-Parrilla Y, Amiel J, Auge J, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attie-Bitach T (2002) Expression of the SMADIP1 gene during early human development. Mech Dev 114:187-191
-
(2002)
Mech Dev
, vol.114
, pp. 187-191
-
-
Espinosa-Parrilla, Y.1
Amiel, J.2
Auge, J.3
Encha-Razavi, F.4
Munnich, A.5
Lyonnet, S.6
Vekemans, M.7
Attie-Bitach, T.8
-
47
-
-
3843095221
-
The neural crest: Basic biology and clinical relationships in the craniofacial and enteric nervous systems
-
Farlie PG, McKeown SJ, Newgreen DF (2005) The neural crest: basic biology and clinical relationships in the craniofacial and enteric nervous systems. Birth Defects Res C Embryo Today 72:173-189
-
(2005)
Birth Defects Res C Embryo Today
, vol.72
, pp. 173-189
-
-
Farlie, P.G.1
McKeown, S.J.2
Newgreen, D.F.3
-
49
-
-
0016703026
-
Anomalies of the urinary tract in Hirschsprung's Disease
-
Festen C (1975) Anomalies of the urinary tract in Hirschsprung's Disease. Z Kinderchir 17:376-380
-
(1975)
Z Kinderchir
, vol.17
, pp. 376-380
-
-
Festen, C.1
-
50
-
-
18044404463
-
Presentation of carcinoma in a patient with a previous operation for Hirschsprung's disease
-
Finck CM, Nicolette L, Baesl T, Strumpf KB, Chandler JC, Ratner M (2001) Presentation of carcinoma in a patient with a previous operation for Hirschsprung's disease. J Pediatr Surg 36:E5
-
(2001)
J Pediatr Surg
, vol.36
-
-
Finck, C.M.1
Nicolette, L.2
Baesl, T.3
Strumpf, K.B.4
Chandler, J.C.5
Ratner, M.6
-
51
-
-
0035171642
-
Nonfixation of an atretic colon predicts Hirschsprung's disease
-
Fishman SJ, Islam S, Buonomo C, Nurko S (2001) Nonfixation of an atretic colon predicts Hirschsprung's disease. J Pediatr Surg 36:202-204
-
(2001)
J Pediatr Surg
, vol.36
, pp. 202-204
-
-
Fishman, S.J.1
Islam, S.2
Buonomo, C.3
Nurko, S.4
-
52
-
-
0029953533
-
Hirschsprung's disease, imperforate anus, and Down's syndrome: A case report
-
Flageole H, Fecteau A, Laberge JM, Guttman FM (1996) Hirschsprung's disease, imperforate anus, and Down's syndrome: a case report. J Pediatr Surg 31:759-760
-
(1996)
J Pediatr Surg
, vol.31
, pp. 759-760
-
-
Flageole, H.1
Fecteau, A.2
Laberge, J.M.3
Guttman, F.M.4
-
53
-
-
0025279087
-
Assignment of the locus for Waardenburg syndrome type 1 to human chromosome 2q37 and possible homology to the splotch mouse
-
Foy C, Newton V, Wellesley D, Harris R, Read AP (1990) Assignment of the locus for Waardenburg syndrome type 1 to human chromosome 2q37 and possible homology to the splotch mouse. Am J Hum Genet 46:1017-1023
-
(1990)
Am J Hum Genet
, vol.46
, pp. 1017-1023
-
-
Foy, C.1
Newton, V.2
Wellesley, D.3
Harris, R.4
Read, A.P.5
-
54
-
-
0031896469
-
Goldberg-Shprintzen syndrome: Report of a new family and review of the literature
-
Fryer AE (1998) Goldberg-Shprintzen syndrome: report of a new family and review of the literature. Clin Dysmorphol 7:97-101
-
(1998)
Clin Dysmorphol
, vol.7
, pp. 97-101
-
-
Fryer, A.E.1
-
55
-
-
0030951798
-
Leukocyte adhesion - Structure and function of human leukocyte beta2-integrins and their cellular ligands
-
Gahmberg CG, Tolvanen M, Kotovuori P (1997) Leukocyte adhesion - structure and function of human leukocyte beta2-integrins and their cellular ligands. Eur J Biochem 245:215-232
-
(1997)
Eur J Biochem
, vol.245
, pp. 215-232
-
-
Gahmberg, C.G.1
Tolvanen, M.2
Kotovuori, P.3
-
56
-
-
0022393182
-
Hirschsprung disease: A genetic study
-
Garver K, Law J, Garver B (1985) Hirschsprung disease: a genetic study. Clin Genet 28:503-508
-
(1985)
Clin Genet
, vol.28
, pp. 503-508
-
-
Garver, K.1
Law, J.2
Garver, B.3
-
57
-
-
0035035064
-
Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease
-
Gath R, Goessling A, Keller KM, Koletzko S, Coerdt W, Muntefering H, Wirth S, Hofstra RM, Mulligan L, Eng C, von Deimling A (2001) Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease. Gut 48:671-675
-
(2001)
Gut
, vol.48
, pp. 671-675
-
-
Gath, R.1
Goessling, A.2
Keller, K.M.3
Koletzko, S.4
Coerdt, W.5
Muntefering, H.6
Wirth, S.7
Hofstra, R.M.8
Mulligan, L.9
Eng, C.10
Von Deimling, A.11
-
58
-
-
0021325488
-
Ileal atresia and long segment Hirschsprung's disease in a neonate
-
Gauderer M, Rothstein FC, Izant R (1984) Ileal atresia and long segment Hirschsprung's disease in a neonate. J Pediatr Surg 19:15-17
-
(1984)
J Pediatr Surg
, vol.19
, pp. 15-17
-
-
Gauderer, M.1
Rothstein, F.C.2
Izant, R.3
-
59
-
-
0029940557
-
Gene-targeting studies of mammalian behavior: Is it the mutation or the background genotype?
-
Gerlai R (1996) Gene-targeting studies of mammalian behavior: is it the mutation or the background genotype? Trends Neurosci 19:177-181
-
(1996)
Trends Neurosci
, vol.19
, pp. 177-181
-
-
Gerlai, R.1
-
60
-
-
0242426665
-
Werner mesomelic dysplasia with Hirschsprung disease
-
Goldenberg A, Milh M, de Lagausie P, Mesnage R, Benarif F, de Blois MC, Munnich A, Lyonnet S, Cormier-Daire V (2003) Werner mesomelic dysplasia with Hirschsprung disease. Am J Med Genet A 123:186-189
-
(2003)
Am J Med Genet A
, vol.123
, pp. 186-189
-
-
Goldenberg, A.1
Milh, M.2
De Lagausie, P.3
Mesnage, R.4
Benarif, F.5
De Blois, M.C.6
Munnich, A.7
Lyonnet, S.8
Cormier-Daire, V.9
-
61
-
-
0021732114
-
A epidemiological study of Hirschsprung's disease
-
Goldberg E (1984) A epidemiological study of Hirschsprung's disease. Int J Epidemiol 13:479-485
-
(1984)
Int J Epidemiol
, vol.13
, pp. 479-485
-
-
Goldberg, E.1
-
63
-
-
0013940697
-
Hirschsprung's disease and mongolism
-
Graivier L, Sieber WK (1966) Hirschsprung's disease and mongolism. Surgery 60:458-461
-
(1966)
Surgery
, vol.60
, pp. 458-461
-
-
Graivier, L.1
Sieber, W.K.2
-
64
-
-
7244255979
-
Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21
-
Gregory-Evans CY, Vieira H, Dalton R, Adams GG, Salt A, Gregory-Evans K (2004) Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. Am J Med Genet A 131:86-90
-
(2004)
Am J Med Genet A
, vol.131
, pp. 86-90
-
-
Gregory-Evans, C.Y.1
Vieira, H.2
Dalton, R.3
Adams, G.G.4
Salt, A.5
Gregory-Evans, K.6
-
65
-
-
0028917454
-
Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome
-
Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M (1995) Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Am J Med Genet 56:322-326
-
(1995)
Am J Med Genet
, vol.56
, pp. 322-326
-
-
Gross, A.1
Kunze, J.2
Maier, R.F.3
Stoltenburg-Didinger, G.4
Grimmer, I.5
Obladen, M.6
-
66
-
-
0026693599
-
Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome
-
Guion-Almeida ML, Richieri-Costa A (1992) Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. Am J Med Genet 43:929-931
-
(1992)
Am J Med Genet
, vol.43
, pp. 929-931
-
-
Guion-Almeida, M.L.1
Richieri-Costa, A.2
-
67
-
-
0028510072
-
Hirschsprung's disease in the Negev
-
Halevy H, Mares A, Cohen Z, Finaly R, Freud E, Pilpel D (1994) Hirschsprung's disease in the Negev. Harefuah 127:148-154
-
(1994)
Harefuah
, vol.127
, pp. 148-154
-
-
Halevy, H.1
Mares, A.2
Cohen, Z.3
Finaly, R.4
Freud, E.5
Pilpel, D.6
-
68
-
-
0027982382
-
Neurocristopathy in mother (ganglioneuroblastoma) and daughter (aganglionosis): Incidental or causal?
-
Hamel CJ, Severijnen RS, De Vaan GA (1994) Neurocristopathy in mother (ganglioneuroblastoma) and daughter (aganglionosis): incidental or causal? Genet Couns 5:303-305
-
(1994)
Genet Couns
, vol.5
, pp. 303-305
-
-
Hamel, C.J.1
Severijnen, R.S.2
De Vaan, G.A.3
-
69
-
-
0141565568
-
Hirschsprung's disease and imperforate anus in Pallister-Hall syndrome: A new association
-
Haynes JH, Bagwell CE (2003) Hirschsprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. J Pediatr Surg 38:1411-1412
-
(2003)
J Pediatr Surg
, vol.38
, pp. 1411-1412
-
-
Haynes, J.H.1
Bagwell, C.E.2
-
70
-
-
0000102639
-
Triple mosaicism of the sex chromosomes in Turner syndrome and Hirschsprung's disease
-
Hayward MD, Cameron AH (1962) Triple mosaicism of the sex chromosomes in Turner syndrome and Hirschsprung's disease. Lancet 2:623
-
(1962)
Lancet
, vol.2
, pp. 623
-
-
Hayward, M.D.1
Cameron, A.H.2
-
71
-
-
0009675716
-
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
-
Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 12:445-447
-
(1996)
Nat Genet
, vol.12
, pp. 445-447
-
-
Hofstra, R.M.1
Osinga, J.2
Tan-Sindhunata, G.3
Wu, Y.4
Kamsteeg, E.J.5
Stulp, R.P.6
Van Ravenswaaij-Arts, C.7
Majoor-Krakauer, D.8
Angrist, M.9
Chakravarti, A.10
Meijers, C.11
Buys, C.H.12
-
72
-
-
0033366516
-
A loss-offunction mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction
-
Hofstra R, Valdenaire O, Arch E, et al (1999), A loss-offunction mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet 64:304-308
-
(1999)
Am J Hum Genet
, vol.64
, pp. 304-308
-
-
Hofstra, R.1
Valdenaire, O.2
Arch, E.3
-
73
-
-
0001783844
-
Hirschsprung's disease
-
Ashcraft KW, Holcomb GW, Murphy J-P (eds), 4th edn. Elsevier Saunders, Philadelphia
-
Holschneider AM, Ure BM (2003) Hirschsprung's disease. In: Ashcraft KW, Holcomb GW, Murphy J-P (eds) Pediatric surgery, 4th edn. Elsevier Saunders, Philadelphia, pp 453-468
-
(2003)
Pediatric Surgery
, pp. 453-468
-
-
Holschneider, A.M.1
Ure, B.M.2
-
74
-
-
8344285149
-
Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome
-
Hou JW (2004) Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. J Formos Med Assoc 103:629-632
-
(2004)
J Formos Med Assoc
, vol.103
, pp. 629-632
-
-
Hou, J.W.1
-
75
-
-
4243198354
-
Cell-autonomous and cell non-autonomous signaling through endothelin receptor B during melanocyte development
-
Hou L, Pavan WJ, Shin MK, Arnheiter H (2004) Cell-autonomous and cell non-autonomous signaling through endothelin receptor B during melanocyte development. Development 131:3239-3247
-
(2004)
Development
, vol.131
, pp. 3239-3247
-
-
Hou, L.1
Pavan, W.J.2
Shin, M.K.3
Arnheiter, H.4
-
76
-
-
0033086332
-
A new syndrome: Heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs
-
Huang T, Elias ER, Mulliken JB, Kirse DJ, Holmes LB (1999) A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs. Genet Med 1:104-108
-
(1999)
Genet Med
, vol.1
, pp. 104-108
-
-
Huang, T.1
Elias, E.R.2
Mulliken, J.B.3
Kirse, D.J.4
Holmes, L.B.5
-
77
-
-
0023751644
-
Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: A new syndrome of defective neuronal migration
-
Hurst JA, Markiewicz M, Kumar D, Brett EM (1988) Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. J Med Genet 25:494-497
-
(1988)
J Med Genet
, vol.25
, pp. 494-497
-
-
Hurst, J.A.1
Markiewicz, M.2
Kumar, D.3
Brett, E.M.4
-
78
-
-
0022800108
-
Additional anomalies in Hirschsprung's disease: An analysis based on a nationwide survey in Japan
-
Ikeda K, Goto S (1986) Additional anomalies in Hirschsprung's disease: an analysis based on a nationwide survey in Japan. Z Kinderchir 41:279-281
-
(1986)
Z Kinderchir
, vol.41
, pp. 279-281
-
-
Ikeda, K.1
Goto, S.2
-
79
-
-
12144285746
-
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
-
Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner M, Lupski JR (2004) Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 36:361-369
-
(2004)
Nat Genet
, vol.36
, pp. 361-369
-
-
Inoue, K.1
Khajavi, M.2
Ohyama, T.3
Hirabayashi, S.4
Wilson, J.5
Reggin, J.D.6
Mancias, P.7
Butler, I.J.8
Wilkinson, M.F.9
Wegner, M.10
Lupski, J.R.11
-
80
-
-
0030185852
-
Bardet-Biedl syndrome: Delayed diagnosis in a child with Hirschsprung disease
-
Islek I, Kucukoduk S, Erkan D, Bernay F, Kalayci AG, Gork S, Kandemir B, Gurses N (1996) Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease. Clin Dysmorphol 5:271-273
-
(1996)
Clin Dysmorphol
, vol.5
, pp. 271-273
-
-
Islek, I.1
Kucukoduk, S.2
Erkan, D.3
Bernay, F.4
Kalayci, A.G.5
Gork, S.6
Kandemir, B.7
Gurses, N.8
-
82
-
-
0024707525
-
Hirschsprung's disease with intestinal malrotation and midgut volvulus: A rare association
-
Jain SK, Singla SK, Sharma M, Pathania OP, Taneja SB (1989) Hirschsprung's disease with intestinal malrotation and midgut volvulus: a rare association. Indian J Gastroenterol 8:201
-
(1989)
Indian J Gastroenterol
, vol.8
, pp. 201
-
-
Jain, S.K.1
Singla, S.K.2
Sharma, M.3
Pathania, O.P.4
Taneja, S.B.5
-
83
-
-
0027249413
-
Two siblings with midline field defects and Hirschsprung disease: Variable expression of Toriello-Carey or new syndrome?
-
Jespers A, Buntinx I, Melis K, Vaerenberg M, Janssens G (1993) Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome? Am J Med Genet 47:299-302
-
(1993)
Am J Med Genet
, vol.47
, pp. 299-302
-
-
Jespers, A.1
Buntinx, I.2
Melis, K.3
Vaerenberg, M.4
Janssens, G.5
-
84
-
-
15844365303
-
GDNF-induced activation of the RET protein tyrosine kinase is mediated by GDNFRalpha, a novel receptor for GDNF
-
Jing S, Wen D, Yu Y, et al (1996), GDNF-induced activation of the RET protein tyrosine kinase is mediated by GDNFRalpha, a novel receptor for GDNF. Cell 85:1113-1124
-
(1996)
Cell
, vol.85
, pp. 1113-1124
-
-
Jing, S.1
Wen, D.2
Yu, Y.3
-
85
-
-
84913936143
-
Disorders and congenital malformations associated with Hirschsprung's disease
-
Holschneider AM (ed), 1st edn. Hipokrates-Verlag, Stuttgart
-
Kaiser G, Bettex M (1982) Disorders and congenital malformations associated with Hirschsprung's disease. In: Holschneider AM (ed) Hirschsprung's disease, 1st edn. Hipokrates-Verlag, Stuttgart, pp 49-53
-
(1982)
Hirschsprung's Disease
, pp. 49-53
-
-
Kaiser, G.1
Bettex, M.2
-
86
-
-
20244379129
-
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
-
Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, et al (2005) Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 76:794-803
-
(2005)
Am J Hum Genet
, vol.76
, pp. 794-803
-
-
Kelsell, D.P.1
Norgett, E.E.2
Unsworth, H.3
Teh, M.T.4
Cullup, T.5
-
87
-
-
0033026260
-
Hirschsprung disease locus at 22q11?
-
Kerstjens-Frederikse WS, Hofstra RM, van Essen AJ, Meijers JH, Buys CH (1999) Hirschsprung disease locus at 22q11? J Med Genet 36:221-224
-
(1999)
J Med Genet
, vol.36
, pp. 221-224
-
-
Kerstjens-Frederikse, W.S.1
Hofstra, R.M.2
Van Essen, A.J.3
Meijers, J.H.4
Buys, C.H.5
-
90
-
-
0027436721
-
Hirschsprung's disease: Three decades' experience at a single institution
-
Klein MD, Philippart AI (1993) Hirschsprung's disease: three decades' experience at a single institution. J Pediatr Surg 28:1291-1293
-
(1993)
J Pediatr Surg
, vol.28
, pp. 1291-1293
-
-
Klein, M.D.1
Philippart, A.I.2
-
91
-
-
0026145861
-
Hirschsprung's disease associated with intestinal malrotation in an adult and a review of literature (in Japanese)
-
Ko S, Fujii H, Yamamoto K, Sado S, Yamamoto M, Nakano H (1991) Hirschsprung's disease associated with intestinal malrotation in an adult and a review of literature (in Japanese). Nippon Geka Gakkai Zasshi 92:469-472
-
(1991)
Nippon Geka Gakkai Zasshi
, vol.92
, pp. 469-472
-
-
Ko, S.1
Fujii, H.2
Yamamoto, K.3
Sado, S.4
Yamamoto, M.5
Nakano, H.6
-
92
-
-
0028436314
-
Peripheral T cell lymphoma (immunoblastic type, HTLV-1 negative) associated with aganglionosis of the intestine
-
Kondo H, Harigaya K, Kurosu K, Yumoto N, Mikata A (1994) Peripheral T cell lymphoma (immunoblastic type, HTLV-1 negative) associated with aganglionosis of the intestine. Rinsho Ketsueki 35:495-500
-
(1994)
Rinsho Ketsueki
, vol.35
, pp. 495-500
-
-
Kondo, H.1
Harigaya, K.2
Kurosu, K.3
Yumoto, N.4
Mikata, A.5
-
93
-
-
0024576097
-
Interstitial deletion of distal 13q associated with Hirschsprung's disease
-
Lamont MA, Fitchett M, Dennis NR (1989) Interstitial deletion of distal 13q associated with Hirschsprung's disease. J Med Genet 26:100-104
-
(1989)
J Med Genet
, vol.26
, pp. 100-104
-
-
Lamont, M.A.1
Fitchett, M.2
Dennis, N.R.3
-
94
-
-
0023317230
-
Oculoauriculovertebral syndrome (Goldenhar syndrome) associated with Hirschsprung disease (in Polish)
-
Lankosz-Lauterbach J, Sanak M (1987) Oculoauriculovertebral syndrome (Goldenhar syndrome) associated with Hirschsprung disease (in Polish). Pediatr Pol 62:249-252
-
(1987)
Pediatr Pol
, vol.62
, pp. 249-252
-
-
Lankosz-Lauterbach, J.1
Sanak, M.2
-
95
-
-
12144270421
-
Variable expression of ophthalmological findings in the 13q deletion syndrome
-
Lansink PJ, Moll AC, Imhof SM, Schouten van Meeteren AY, Goverts ST (2005) Variable expression of ophthalmological findings in the 13q deletion syndrome. Arch Ophthalmol 123:127-128
-
(2005)
Arch Ophthalmol
, vol.123
, pp. 127-128
-
-
Lansink, P.J.1
Moll, A.C.2
Imhof, S.M.3
Schouten Van Meeteren, A.Y.4
Goverts, S.T.5
-
96
-
-
0016677913
-
Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: A case for fetoscopy
-
Laurence KM, Prosser R, Rocker I, Pearson JF, Richard C (1975) Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy. J Med Genet 12:334-338
-
(1975)
J Med Genet
, vol.12
, pp. 334-338
-
-
Laurence, K.M.1
Prosser, R.2
Rocker, I.3
Pearson, J.F.4
Richard, C.5
-
98
-
-
0033391115
-
Congenital colonic hypoganglionosis in murine trisomy 16 - An animal model for Down's syndrome
-
Leffler A, Wedel T, Busch LC (1999) Congenital colonic hypoganglionosis in murine trisomy 16 - an animal model for Down's syndrome. Eur J Pediatr Surg 9:381-388
-
(1999)
Eur J Pediatr Surg
, vol.9
, pp. 381-388
-
-
Leffler, A.1
Wedel, T.2
Busch, L.C.3
-
99
-
-
0035876996
-
Genetic mapping of a novel X-linked recessive colobomatous microphthalmia
-
Lehman DM, Sponsel WE, Stratton RF, Mensah J, Macdonald JC, Johnson-Pais TL, Coon H, Reveles XT, Cody JD, Leach RJ (2001) Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. Am J Med Genet 101:114-119
-
(2001)
Am J Med Genet
, vol.101
, pp. 114-119
-
-
Lehman, D.M.1
Sponsel, W.E.2
Stratton, R.F.3
Mensah, J.4
Macdonald, J.C.5
Johnson-Pais, T.L.6
Coon, H.7
Reveles, X.T.8
Cody, J.D.9
Leach, R.J.10
-
100
-
-
15844427598
-
Xp22.3 microdeletion including VCX-A and VCXB1 genes in an X-linked ichthyosis family: No difference in deletion size for patients with and without mental retardation
-
Lesca G, Sinilnikova O, Theuil G, Blanc J, Edery P, Till M (2005) Xp22.3 microdeletion including VCX-A and VCXB1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation. Clin Genet 67:367-368
-
(2005)
Clin Genet
, vol.67
, pp. 367-368
-
-
Lesca, G.1
Sinilnikova, O.2
Theuil, G.3
Blanc, J.4
Edery, P.5
Till, M.6
-
101
-
-
0042867016
-
Abnormal arteries in Hirschsprung's disease
-
Lister J (1966) Abnormal arteries in Hirschsprung's disease. Arch Dis Child 41:149
-
(1966)
Arch Dis Child
, vol.41
, pp. 149
-
-
Lister, J.1
-
102
-
-
8444239596
-
Hirschsprung's disease
-
Rickham PP, Lister J, Irving IM (eds). Butterworth, London
-
Lister J, Rickham PP (1978) Hirschsprung's disease. In: Rickham PP, Lister J, Irving IM (eds) Neonatal surgery. Butterworth, London, pp 441-448
-
(1978)
Neonatal Surgery
, pp. 441-448
-
-
Lister, J.1
Rickham, P.P.2
-
103
-
-
9044231726
-
Hirschsprung's disease
-
Lister J, Irving IM (eds), 3rd edn. Butterworth, London
-
Lister J, Tam PK (1990) Hirschsprung's disease. In: Lister J, Irving IM (eds) Neonatal surgery, 3rd edn. Butterworth, London, pp 523-546
-
(1990)
Neonatal Surgery
, pp. 523-546
-
-
Lister, J.1
Tam, P.K.2
-
104
-
-
0033987082
-
Situs inversus and Hirschsprung disease: Two uncommon manifestations in Bardet-Biedl syndrome
-
Lorda-Sanchez I, Ayuso C, Ibanez A (2000) Situs inversus and Hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome. Am J Med Genet 90:80-81
-
(2000)
Am J Med Genet
, vol.90
, pp. 80-81
-
-
Lorda-Sanchez, I.1
Ayuso, C.2
Ibanez, A.3
-
105
-
-
0028138537
-
Heterogeneity of mutations of the RET proto-oncogene in autosomal dominant HSCR
-
Luo Y, Barone V, Seri M, Bolino A, Bocciardi R, Ceccherini I, Pasini B, Tocco T, Lerone M, Cywes S, Moore S, Vanderwinden JM, Abramowicz MJ, Kristofferson U, Hamel B, Martucciello G, Romeo G (1994) Heterogeneity of mutations of the RET proto-oncogene in autosomal dominant HSCR. Eur J Hum Genet 2:272-280
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 272-280
-
-
Luo, Y.1
Barone, V.2
Seri, M.3
Bolino, A.4
Bocciardi, R.5
Ceccherini, I.6
Pasini, B.7
Tocco, T.8
Lerone, M.9
Cywes, S.10
Moore, S.11
Vanderwinden, J.M.12
Abramowicz, M.J.13
Kristofferson, U.14
Hamel, B.15
Martucciello, G.16
Romeo, G.17
-
106
-
-
0028215714
-
Phenotypic variability of del(2) (q22-q23): Report of a case with a review of the literature
-
Lurie IW, Supovitz KR, Rosenblum-Vos LS, Wulfsberg EA (1994) Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature. Genet Couns 5:11-14
-
(1994)
Genet Couns
, vol.5
, pp. 11-14
-
-
Lurie, I.W.1
Supovitz, K.R.2
Rosenblum-Vos, L.S.3
Wulfsberg, E.A.4
-
107
-
-
0021400384
-
A case of Hirschsprung's disease associated with Laurence-Moon- Bardet-Biedl syndrome
-
Maeda T, Okazaki K, Tachibana M, Sakamoto Y, Sakaeda H, Yamamoto Y, Ito K, Watanabe Y (1984) A case of Hirschsprung's disease associated with Laurence-Moon- Bardet-Biedl syndrome. Nippon Shokakibyo Gakkai Zasshi 81:912-916
-
(1984)
Nippon Shokakibyo Gakkai Zasshi
, vol.81
, pp. 912-916
-
-
Maeda, T.1
Okazaki, K.2
Tachibana, M.3
Sakamoto, Y.4
Sakaeda, H.5
Yamamoto, Y.6
Ito, K.7
Watanabe, Y.8
-
109
-
-
0021229233
-
Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature
-
Mahboubi S, Templeton JM Jr. (1984) Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature. Pediatr Radiol 14:441-442
-
(1984)
Pediatr Radiol
, vol.14
, pp. 441-442
-
-
Mahboubi, S.1
Templeton Jr., J.M.2
-
110
-
-
9644277156
-
Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect
-
Maka M, Stolt CC, Wegner M (2005) Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect. Dev Biol 277:155-169
-
(2005)
Dev Biol
, vol.277
, pp. 155-169
-
-
Maka, M.1
Stolt, C.C.2
Wegner, M.3
-
111
-
-
0027467736
-
Cartilage-hair hypoplasia - Clinical manifestations in 108 Finnish patients
-
Makitie O, Kaitila I (1993) Cartilage-hair hypoplasia - clinical manifestations in 108 Finnish patients. Eur J Pediatr 152:211-217
-
(1993)
Eur J Pediatr
, vol.152
, pp. 211-217
-
-
Makitie, O.1
Kaitila, I.2
-
112
-
-
0036829540
-
Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis
-
Makitie O, Heikkinen M, Kaitila I, Rintala R (2002) Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. J Pediatr Surg 37:1585-1588
-
(2002)
J Pediatr Surg
, vol.37
, pp. 1585-1588
-
-
Makitie, O.1
Heikkinen, M.2
Kaitila, I.3
Rintala, R.4
-
113
-
-
0024477170
-
Ichthyosis, deafness, and Hirschsprung's disease
-
Mallory SB, Haynie LS, Williams ML, Hall W (1989) Ichthyosis, deafness, and Hirschsprung's disease. Pediatr Dermatol 6:24-27
-
(1989)
Pediatr Dermatol
, vol.6
, pp. 24-27
-
-
Mallory, S.B.1
Haynie, L.S.2
Williams, M.L.3
Hall, W.4
-
114
-
-
0027268522
-
Congenital muscular dystrophy with neurological abnormalities: Association with Hirschsprung disease
-
Mandel H, Brik R, Ludatscher R, Braun J, Berant M (1993) Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease. Am J Med Genet 47:37-40
-
(1993)
Am J Med Genet
, vol.47
, pp. 37-40
-
-
Mandel, H.1
Brik, R.2
Ludatscher, R.3
Braun, J.4
Berant, M.5
-
115
-
-
0031409095
-
Molecular genetic analysis of familial neuroblastoma
-
Maris JM, Kyemba SM, Rebbeck TR, White PS, Sulman EP, Jensen SJ, Allen C, Biegel JA, Brodeur GM (1997) Molecular genetic analysis of familial neuroblastoma. Eur J Cancer 33:1923-1928
-
(1997)
Eur J Cancer
, vol.33
, pp. 1923-1928
-
-
Maris, J.M.1
Kyemba, S.M.2
Rebbeck, T.R.3
White, P.S.4
Sulman, E.P.5
Jensen, S.J.6
Allen, C.7
Biegel, J.A.8
Brodeur, G.M.9
-
116
-
-
0026724137
-
Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10
-
Martuciello G, Bicocci MP, Dodero P, Lerone M, Silengo-Cirillo M, Puliti A, Gimelli G (1992) Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. Pediatr Surg Int 7:308-310
-
(1992)
Pediatr Surg Int
, vol.7
, pp. 308-310
-
-
Martuciello, G.1
Bicocci, M.P.2
Dodero, P.3
Lerone, M.4
Silengo-Cirillo, M.5
Puliti, A.6
Gimelli, G.7
-
117
-
-
0032006819
-
Molecular cloning, expression and tissue distribution of glial-cellline- derived neurotrophic factor family receptor alpha-3 (GFRalpha-3)
-
Masure S, Cik M, Pangalos MN, Bonaventure P, Verhasselt P, Lesage AS, Leysen JE, Gordon RD (1998) Molecular cloning, expression and tissue distribution of glial-cellline- derived neurotrophic factor family receptor alpha-3 (GFRalpha-3). Eur J Biochem 251:622-630
-
(1998)
Eur J Biochem
, vol.251
, pp. 622-630
-
-
Masure, S.1
Cik, M.2
Pangalos, M.N.3
Bonaventure, P.4
Verhasselt, P.5
Lesage, A.S.6
Leysen, J.E.7
Gordon, R.D.8
-
118
-
-
0032545203
-
Anencephaly-associated aganglionosis
-
Mathew A (1998) Anencephaly-associated aganglionosis. Am J Med Genet 80:518-520
-
(1998)
Am J Med Genet
, vol.80
, pp. 518-520
-
-
Mathew, A.1
-
119
-
-
3242736438
-
Genomic variation in multigenic traits: Hirschsprung disease
-
McCallion AS, Emison ES, Kashuk CS, Bush RT, Kenton M, Carrasquillo MM, Jones KW, Kennedy GC, Portnoy ME, Green ED, Chakravarti A (2003) Genomic variation in multigenic traits: Hirschsprung disease. Cold Spring Harb Symp Quant Biol 68:373-381
-
(2003)
Cold Spring Harb Symp Quant Biol
, vol.68
, pp. 373-381
-
-
McCallion, A.S.1
Emison, E.S.2
Kashuk, C.S.3
Bush, R.T.4
Kenton, M.5
Carrasquillo, M.M.6
Jones, K.W.7
Kennedy, G.C.8
Portnoy, M.E.9
Green, E.D.10
Chakravarti, A.11
-
120
-
-
8044250046
-
Anteroposterior differences within caudal hindbrain neural crest cell populations and the development of the enteric nervous system
-
Presented at the, Cleveland, Ohio, October 1995
-
Meijers C, Mulder M (1995) Anteroposterior differences within caudal hindbrain neural crest cell populations and the development of the enteric nervous system. Presented at the Second International Meeting: Hirschsprung Disease and Related Neurocristopathies, Cleveland, Ohio, October 1995
-
(1995)
Second International Meeting: Hirschsprung Disease and Related Neurocristopathies
-
-
Meijers, C.1
Mulder, M.2
-
121
-
-
0023223756
-
Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis
-
Meire F, Standaert L, De Laey JJ, Zeng LH (1987), Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis. Am J Med Genet 27:683-686
-
(1987)
Am J Med Genet
, vol.27
, pp. 683-686
-
-
Meire, F.1
Standaert, L.2
De Laey, J.J.3
Zeng, L.H.4
-
122
-
-
0026641597
-
A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease
-
Melaragno MI, Brunoni D, Patricio FR, Corbani M, Mustacchi Z, dos Santos Rde C, Lederman HM (1992) A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease. Ann Genet 35:79-84
-
(1992)
Ann Genet
, vol.35
, pp. 79-84
-
-
Melaragno, M.I.1
Brunoni, D.2
Patricio, F.R.3
Corbani, M.4
Mustacchi, Z.5
Dos Santos Rde, C.6
Lederman, H.M.7
-
123
-
-
0022271594
-
Meningomyelocele and Hirschprung disease: Theoretical and clinical significance
-
Merkler RG, Solish SB, Scherzer AL (1985) Meningomyelocele and Hirschprung disease: theoretical and clinical significance. Pediatrics 76:299-300
-
(1985)
Pediatrics
, vol.76
, pp. 299-300
-
-
Merkler, R.G.1
Solish, S.B.2
Scherzer, A.L.3
-
124
-
-
0023882137
-
Multifocal ganglioneuroblastoma coexistent with total colonic aganglionosis
-
Michna BA, McWilliams NB, Krummel TM, Hartenberg MA, Salzberg AM (1988) Multifocal ganglioneuroblastoma coexistent with total colonic aganglionosis. J Pediatr Surg 23:57-59
-
(1988)
J Pediatr Surg
, vol.23
, pp. 57-59
-
-
Michna, B.A.1
McWilliams, N.B.2
Krummel, T.M.3
Hartenberg, M.A.4
Salzberg, A.M.5
-
125
-
-
0024993967
-
Hirschsprung's disease in mentally retarded patients: A bad prognostic combination
-
Molander M-L (1990) Hirschsprung's disease in mentally retarded patients: a bad prognostic combination. Pediatr Surg Int 5:339-340
-
(1990)
Pediatr Surg Int
, vol.5
, pp. 339-340
-
-
Molander, M.-L.1
-
127
-
-
0031927502
-
Hirschsprung's disease: Genetic and functional associations of Down's and Waardenburg's syndromes
-
Moore SW, Johnson GA (1998) Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg's syndromes. Semin Pediatr Surg 7:156-161
-
(1998)
Semin Pediatr Surg
, vol.7
, pp. 156-161
-
-
Moore, S.W.1
Johnson, G.A.2
-
128
-
-
33645387146
-
Combined associations of RET and EDNRB in sporadic Hirschsprung's disease: Evaluation of 2-locus genetic associations
-
Presented at the, Sestri Levante, Italy, April
-
Moore SW, Zaahl M (2004) Combined associations of RET and EDNRB in sporadic Hirschsprung's disease: evaluation of 2-locus genetic associations. Presented at the 4th International Meeting: Hirschsprung Disease and Related Neurocristopathies, Sestri Levante, Italy, April
-
(2004)
4th International Meeting: Hirschsprung Disease and Related Neurocristopathies
-
-
Moore, S.W.1
Zaahl, M.2
-
130
-
-
0025779981
-
Familial aspects of Hirschsprung's disease
-
Moore SW, Rode H, Millar AJ, Albertyn R, Cywes S (1991) Familial aspects of Hirschsprung's disease. Eur J Pediatr Surg 1:97-107
-
(1991)
Eur J Pediatr Surg
, vol.1
, pp. 97-107
-
-
Moore, S.W.1
Rode, H.2
Millar, A.J.3
Albertyn, R.4
Cywes, S.5
-
131
-
-
0031853185
-
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23
-
Mowat DR, Croaker GD, Cass DT, Kerr BA, Chaitow J, Ades LC, Chia NL, Wilson MJ (1998) Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet 35:617-623
-
(1998)
J Med Genet
, vol.35
, pp. 617-623
-
-
Mowat, D.R.1
Croaker, G.D.2
Cass, D.T.3
Kerr, B.A.4
Chaitow, J.5
Ades, L.C.6
Chia, N.L.7
Wilson, M.J.8
-
132
-
-
0028566385
-
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
-
Mulligan LM, Eng C, Attie T, Lyonnet S, Marsh DJ, Hyland VJ, Robinson BG, Frilling A, Verellen-Dumoulin C, Safar A, et al (1994) Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet 3:2163-2167
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2163-2167
-
-
Mulligan, L.M.1
Eng, C.2
Attie, T.3
Lyonnet, S.4
Marsh, D.J.5
Hyland, V.J.6
Robinson, B.G.7
Frilling, A.8
Verellen-Dumoulin, C.9
Safar, A.10
-
133
-
-
0031021225
-
Hirschsprung disease, postaxial polydactyly, and atrial septal defect
-
Nowaczyk MJ, James AG, Superina R, Siegel-Bartelt J (1997) Hirschsprung disease, postaxial polydactyly, and atrial septal defect. Am J Med Genet 68:74-75
-
(1997)
Am J Med Genet
, vol.68
, pp. 74-75
-
-
Nowaczyk, M.J.1
James, A.G.2
Superina, R.3
Siegel-Bartelt, J.4
-
134
-
-
0031565852
-
Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma
-
Ohnuma K, Imaizumi K, Masuno M, Nakamura M, Kuroki Y (1997) Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma. Am J Med Genet 73:230-232
-
(1997)
Am J Med Genet
, vol.73
, pp. 230-232
-
-
Ohnuma, K.1
Imaizumi, K.2
Masuno, M.3
Nakamura, M.4
Kuroki, Y.5
-
135
-
-
0030738352
-
Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM
-
Okamoto N, Wada Y, Goto M (1997) Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. J Med Genet 34:670-671
-
(1997)
J Med Genet
, vol.34
, pp. 670-671
-
-
Okamoto, N.1
Wada, Y.2
Goto, M.3
-
136
-
-
0018580605
-
The association of Waardenburg syndrome and Hirschsprung's megacolon
-
Omenn GS, McKusick VA (1979), The association of Waardenburg syndrome and Hirschsprung's megacolon. Am J Med Genet 3:217-223
-
(1979)
Am J Med Genet
, vol.3
, pp. 217-223
-
-
Omenn, G.S.1
McKusick, V.A.2
-
137
-
-
0842323930
-
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: A survey of the clinical variability in light of FGD1 mutation analysis in 46 patients
-
Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V (2004) Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet 12:16-23
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 16-23
-
-
Orrico, A.1
Galli, L.2
Cavaliere, M.L.3
Garavelli, L.4
Fryns, J.P.5
Crushell, E.6
Rinaldi, M.M.7
Medeira, A.8
Sorrentino, V.9
-
138
-
-
0026729836
-
No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21
-
Pangalos C, Theophile D, Sinet PM, Marks A, Stamboulieh- Abazis D, Chettouh Z, Prieur M, Verellen C, Rethore MO, Lejeune J, et al (1992) No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21. Am J Hum Genet 51:1240-1250
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1240-1250
-
-
Pangalos, C.1
Theophile, D.2
Sinet, P.M.3
Marks, A.4
Stamboulieh-Abazis, D.5
Chettouh, Z.6
Prieur, M.7
Verellen, C.8
Rethore, M.O.9
Lejeune, J.10
-
139
-
-
0014210694
-
The genetics of Hirschsprung's disease
-
Passarge E (1967) The genetics of Hirschsprung's disease. N Engl J Med 276:138-143
-
(1967)
N Engl J Med
, vol.276
, pp. 138-143
-
-
Passarge, E.1
-
140
-
-
0036578787
-
Dissecting Hirschsprung disease
-
Passarge E (2002) Dissecting Hirschsprung disease. Nat Genet 1:11-12
-
(2002)
Nat Genet
, vol.1
, pp. 11-12
-
-
Passarge, E.1
-
141
-
-
0025195761
-
Leukocyte-cell adhesion: A molecular process fundamental in leukocyte physiology
-
Patarroyo M, Prieto J, Rincon J, Timonen T, Lundberg C, Lindbom L, Asjo B, Gahmberg CG (1990) Leukocyte-cell adhesion: a molecular process fundamental in leukocyte physiology. Immunol Rev 114:67-108
-
(1990)
Immunol Rev
, vol.114
, pp. 67-108
-
-
Patarroyo, M.1
Prieto, J.2
Rincon, J.3
Timonen, T.4
Lundberg, C.5
Lindbom, L.6
Asjo, B.7
Gahmberg, C.G.8
-
142
-
-
0020961517
-
Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome
-
Patterson K, Toomey KE, Chandra RS (1983) Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. J Pediatr 103:425-427
-
(1983)
J Pediatr
, vol.103
, pp. 425-427
-
-
Patterson, K.1
Toomey, K.E.2
Chandra, R.S.3
-
143
-
-
18344381314
-
PHOX2B mutations and genetic predisposition to neuroblastoma
-
Perri P, Bachetti T, Matera I, Seri M, Tonini GP, Ceccherini I (2005) PHOX2B mutations and genetic predisposition to neuroblastoma. Oncogene 24:3050-3053
-
(2005)
Oncogene
, vol.24
, pp. 3050-3053
-
-
Perri, P.1
Bachetti, T.2
Matera, I.3
Seri, M.4
Tonini, G.P.5
Ceccherini, I.6
-
144
-
-
0031017089
-
Human homology and candidate genes for the dominant megacolon locus, a mouse model of Hirschsprung disease
-
Pingault V, Puliti A, Prehu M-O, Samadi A, Bondurand N, Goossens M (1997) Human homology and candidate genes for the dominant megacolon locus, a mouse model of Hirschsprung disease, Genomics 39:86-89
-
(1997)
Genomics
, vol.39
, pp. 86-89
-
-
Pingault, V.1
Puliti, A.2
Prehu, M.-O.3
Samadi, A.4
Bondurand, N.5
Goossens, M.6
-
145
-
-
0029002926
-
Imperforate anus, malrotation and Hirschsprung's disease: A rare association
-
Poenaru D, Uroz-Tristan J, Leclerc S, Murphy S, Bensoussan AL (1995) Imperforate anus, malrotation and Hirschsprung's disease: a rare association. Eur J Pediatr Surg 5:187-189
-
(1995)
Eur J Pediatr Surg
, vol.5
, pp. 187-189
-
-
Poenaru, D.1
Uroz-Tristan, J.2
Leclerc, S.3
Murphy, S.4
Bensoussan, A.L.5
-
146
-
-
0023036805
-
Hirschsprung's disease in the newborn
-
Polley TZ, Coran AG (1986) Hirschsprung's disease in the newborn. Pediatr Surg Int 1:80-83
-
(1986)
Pediatr Surg Int
, vol.1
, pp. 80-83
-
-
Polley, T.Z.1
Coran, A.G.2
-
147
-
-
4344585271
-
Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18
-
Prabhakara K, Wyandt HE, Huang XL, Prasad KS, Ramadevi AR (2004) Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18. Ann Genet 47:297-303
-
(2004)
Ann Genet
, vol.47
, pp. 297-303
-
-
Prabhakara, K.1
Wyandt, H.E.2
Huang, X.L.3
Prasad, K.S.4
Ramadevi, A.R.5
-
148
-
-
0028069130
-
Identityby- descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
-
Puffenberger E, Kauffman E, Bolk S, et al (1994) Identityby- descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet 3:1217-1225
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1217-1225
-
-
Puffenberger, E.1
Kauffman, E.2
Bolk, S.3
-
149
-
-
0028358232
-
The influence of trisomy 21 on outcome in children with Hirschsprung's disease
-
Quinn FM, Surana R, Puri P (1994) The influence of trisomy 21 on outcome in children with Hirschsprung's disease. J Pediatr Surg 29:781-783
-
(1994)
J Pediatr Surg
, vol.29
, pp. 781-783
-
-
Quinn, F.M.1
Surana, R.2
Puri, P.3
-
150
-
-
0037980044
-
Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former
-
Rakheja D, Wilson GN, Rogers BB (2003) Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former. Pediatr Dev Pathol 6:270-277
-
(2003)
Pediatr Dev Pathol
, vol.6
, pp. 270-277
-
-
Rakheja, D.1
Wilson, G.N.2
Rogers, B.B.3
-
151
-
-
0033916281
-
Hedgehog signals regulate multiple aspects of gastrointestinal development
-
Ramalho-Santos M, Melton DA, McMahon AP (2000) Hedgehog signals regulate multiple aspects of gastrointestinal development. Development 127:2763-2772
-
(2000)
Development
, vol.127
, pp. 2763-2772
-
-
Ramalho-Santos, M.1
Melton, D.A.2
McMahon, A.P.3
-
152
-
-
0029682809
-
Frequent loss of heterozygosity for markers on chromosome arm 10q in chondrosarcomas
-
Raskind WH, Conrad EU, Matsushita M (1996) Frequent loss of heterozygosity for markers on chromosome arm 10q in chondrosarcomas. Genes Chromosomes Cancer 16:138-143
-
(1996)
Genes Chromosomes Cancer
, vol.16
, pp. 138-143
-
-
Raskind, W.H.1
Conrad, E.U.2
Matsushita, M.3
-
153
-
-
0031036378
-
Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): New X-linked syndrome?
-
Reish O, Gorlin RJ, Hordinsky M, Rest EB, Burke B, Berry SA (1997) Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome? Am J Med Genet 68:386-390
-
(1997)
Am J Med Genet
, vol.68
, pp. 386-390
-
-
Reish, O.1
Gorlin, R.J.2
Hordinsky, M.3
Rest, E.B.4
Burke, B.5
Berry, S.A.6
-
154
-
-
0028827671
-
Leukocyte adhesion deficiency mimicking Hirschsprung disease
-
Rivera-Matos I, Rakita R, Mariscalco M, Elder F, Dreyer S, Cleary T (1995) Leukocyte adhesion deficiency mimicking Hirschsprung disease. J Pediatr 127:755-757
-
(1995)
J Pediatr
, vol.127
, pp. 755-757
-
-
Rivera-Matos, I.1
Rakita, R.2
Mariscalco, M.3
Elder, F.4
Dreyer, S.5
Cleary, T.6
-
155
-
-
0028087876
-
Phenotypic diversity, allelic series and modifier genes
-
Romeo G, McKusick V (1994) Phenotypic diversity, allelic series and modifier genes. Nat Genet 7:451-453
-
(1994)
Nat Genet
, vol.7
, pp. 451-453
-
-
Romeo, G.1
McKusick, V.2
-
156
-
-
0028120882
-
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
-
Romeo G, Ronchetto P, Luo Y, et al (1994) Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367:377-378
-
(1994)
Nature
, vol.367
, pp. 377-378
-
-
Romeo, G.1
Ronchetto, P.2
Luo, Y.3
-
159
-
-
0042329921
-
Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease
-
Sancandi M, Griseri P, Pesce B, Patrone G, Puppo F, Lerone M, Martucciello G, Romeo G, Ravazzolo R, Devoto M, Ceccherini I (2003) Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease. J Med Genet 40:714-718
-
(2003)
J Med Genet
, vol.40
, pp. 714-718
-
-
Sancandi, M.1
Griseri, P.2
Pesce, B.3
Patrone, G.4
Puppo, F.5
Lerone, M.6
Martucciello, G.7
Romeo, G.8
Ravazzolo, R.9
Devoto, M.10
Ceccherini, I.11
-
160
-
-
0023834887
-
Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: A new autosomal recessive syndrome
-
Santos H, Mateus J, Leal MJ (1988) Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. J Med Genet 25:204-205
-
(1988)
J Med Genet
, vol.25
, pp. 204-205
-
-
Santos, H.1
Mateus, J.2
Leal, M.J.3
-
162
-
-
0344530386
-
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: Further ophthalmologic delineation of the renal-coloboma syndrome
-
Schimmenti LA, Manligas GS, Sieving PA (2003) Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet 24:191-202
-
(2003)
Ophthalmic Genet
, vol.24
, pp. 191-202
-
-
Schimmenti, L.A.1
Manligas, G.S.2
Sieving, P.A.3
-
163
-
-
0000046769
-
Aganglionic megacolon, phaeochromocytoma, megaloureter and neurofibromatosis
-
Schocket E, Telok HA (1957) Aganglionic megacolon, phaeochromocytoma, megaloureter and neurofibromatosis. Am J Dis Child 94:185-191
-
(1957)
Am J Dis Child
, vol.94
, pp. 185-191
-
-
Schocket, E.1
Telok, H.A.2
-
164
-
-
0038010599
-
Bilateral retinoblastoma, microphthalmia, and colobomas in the 13q deletion syndrome
-
Schocket LS, Beaverson KL, Rollins I, Abramson D (2003) Bilateral retinoblastoma, microphthalmia, and colobomas in the 13q deletion syndrome. Arch Ophthalmol 121:916-917
-
(2003)
Arch Ophthalmol
, vol.121
, pp. 916-917
-
-
Schocket, L.S.1
Beaverson, K.L.2
Rollins, I.3
Abramson, D.4
-
165
-
-
0019406679
-
White forelock, pigmentary disorder of irides and long segment Hirschsprung's disease: Possible variant of Waardenburg syndrome
-
Shah KN, Dalal SJ, Desai MP (1981) White forelock, pigmentary disorder of irides and long segment Hirschsprung's disease: possible variant of Waardenburg syndrome, J Pediatr 99:432-435
-
(1981)
J Pediatr
, vol.99
, pp. 432-435
-
-
Shah, K.N.1
Dalal, S.J.2
Desai, M.P.3
-
166
-
-
0037699808
-
Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease
-
Shahar E, Shinawi M (2003) Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease. Pediatr Neurol 28:385-391
-
(2003)
Pediatr Neurol
, vol.28
, pp. 385-391
-
-
Shahar, E.1
Shinawi, M.2
-
167
-
-
0344919875
-
Hirschsprung's disease
-
Welch KJ, Randolph JG, Ravitch MM (eds). Year Book, Chicago
-
Sieber WK (1986) Hirschsprung's disease. In: Welch KJ, Randolph JG, Ravitch MM (eds) Pediatric surgery. Year Book, Chicago, pp 995-1020
-
(1986)
Pediatric Surgery
, pp. 995-1020
-
-
Sieber, W.K.1
-
168
-
-
0038494592
-
Hirschsprung's disease: The Australian Paediatric Surveillance Unit's experience
-
Singh SJ, Croaker GD, Manglick P, Wong CL, Athanasakos H, Elliott E, Cass D (2003) Hirschsprung's disease: the Australian Paediatric Surveillance Unit's experience. Pediatr Surg Int 19:247-250
-
(2003)
Pediatr Surg Int
, vol.19
, pp. 247-250
-
-
Singh, S.J.1
Croaker, G.D.2
Manglick, P.3
Wong, C.L.4
Athanasakos, H.5
Elliott, E.6
Cass, D.7
-
169
-
-
0036254880
-
Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene
-
Slaugenhaupt SA (2002) Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene. Clin Auton Res 12 [Suppl 1]:I15-19
-
(2002)
Clin Auton Res
, vol.12
, Issue.SUPPL. 1
-
-
Slaugenhaupt, S.A.1
-
170
-
-
0034722869
-
Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review
-
Slavotinek AM, Biesecker LG (2000) Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: a literature review. Am J Med Genet 95:208-215
-
(2000)
Am J Med Genet
, vol.95
, pp. 208-215
-
-
Slavotinek, A.M.1
Biesecker, L.G.2
-
171
-
-
0037370297
-
Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system
-
Solari V, Ennis S, Yoneda A, Wong L, Messineo A, Hollwarth ME, Green A, Puri P (2003) Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system. J Pediatr Surg 38:497-501
-
(2003)
J Pediatr Surg
, vol.38
, pp. 497-501
-
-
Solari, V.1
Ennis, S.2
Yoneda, A.3
Wong, L.4
Messineo, A.5
Hollwarth, M.E.6
Green, A.7
Puri, P.8
-
172
-
-
0021722228
-
Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3)
-
Sparkes RS, Sparkes MC, Kalina RE, Pagon RA, Salk DJ, Disteche CM (1984) Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3). Hum Genet 68:258-259
-
(1984)
Hum Genet
, vol.68
, pp. 258-259
-
-
Sparkes, R.S.1
Sparkes, M.C.2
Kalina, R.E.3
Pagon, R.A.4
Salk, D.J.5
Disteche, C.M.6
-
173
-
-
0021970463
-
Hirschsprung's disease in a large birth cohort
-
Spouge D, Baird PA (1985) Hirschsprung's disease in a large birth cohort. Teratology 32:171-177
-
(1985)
Teratology
, vol.32
, pp. 171-177
-
-
Spouge, D.1
Baird, P.A.2
-
174
-
-
3242787398
-
Differential maturation of the innate immune response in human fetuses
-
Strunk T, Temming P, Gembruch U, Reiss I, Bucsky P, Schultz C (2004) Differential maturation of the innate immune response in human fetuses. Pediatr Res 56:219-226
-
(2004)
Pediatr Res
, vol.56
, pp. 219-226
-
-
Strunk, T.1
Temming, P.2
Gembruch, U.3
Reiss, I.4
Bucsky, P.5
Schultz, C.6
-
175
-
-
0027503620
-
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis
-
Sulisalo T, Sistonen P, Hastbacka J, Wadelius C, Makitie O, de la Chapelle A, Kaitila I (1993) Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nat Genet 3:338-341
-
(1993)
Nat Genet
, vol.3
, pp. 338-341
-
-
Sulisalo, T.1
Sistonen, P.2
Hastbacka, J.3
Wadelius, C.4
Makitie, O.5
De La Chapelle, A.6
Kaitila, I.7
-
176
-
-
8044222559
-
Follow up of 200 patients treated for Hirschsprung's disease during a 10 year period
-
Swenson O (1957) Follow up of 200 patients treated for Hirschsprung's disease during a 10 year period. Ann Surg 146:706-714
-
(1957)
Ann Surg
, vol.146
, pp. 706-714
-
-
Swenson, O.1
-
177
-
-
0012905499
-
Hirschsprung's disease
-
Raffensberger JG (ed), 5th edn. Appleton and Lange, New York
-
Swenson O, Raffensberger JG (1990) Hirschsprung's disease. In: Raffensberger JG (ed) Swenson's paediatric surgery, 5th edn. Appleton and Lange, New York, pp 555-578
-
(1990)
Swenson's Paediatric Surgery
, pp. 555-578
-
-
Swenson, O.1
Raffensberger, J.G.2
-
178
-
-
0021831732
-
The association of imperforate anus and Hirschsprung's disease in siblings
-
Takada Y, Aoyama K, Goto T, Mori S (1985) The association of imperforate anus and Hirschsprung's disease in siblings. J Pediatr Surg 20:271-273
-
(1985)
J Pediatr Surg
, vol.20
, pp. 271-273
-
-
Takada, Y.1
Aoyama, K.2
Goto, T.3
Mori, S.4
-
179
-
-
0029026103
-
The cell cycle of the pseudostratified ventricular epithelium of the embryonic murine cerebral wall
-
Takahashi T, Nowakowski RS, Caviness VS Jr. (1995) The cell cycle of the pseudostratified ventricular epithelium of the embryonic murine cerebral wall. J Neurosci 15:6046-6057
-
(1995)
J Neurosci
, vol.15
, pp. 6046-6057
-
-
Takahashi, T.1
Nowakowski, R.S.2
Caviness Jr., V.S.3
-
180
-
-
0034888891
-
Radial glia is a progenitor of neocortical neurons in the developing cerebral cortex
-
Tamamaki N, Nakamura K, Okamoto K, Kaneko T (2001) Radial glia is a progenitor of neocortical neurons in the developing cerebral cortex. Neurosci Res 41:51-60
-
(2001)
Neurosci Res
, vol.41
, pp. 51-60
-
-
Tamamaki, N.1
Nakamura, K.2
Okamoto, K.3
Kaneko, T.4
-
181
-
-
15844418441
-
Characterisation of a multicomponent receptor for GDNF
-
Treanor J, Goodman L, de Sauvage F, et al (1996) Characterisation of a multicomponent receptor for GDNF. Nature 382:80-83
-
(1996)
Nature
, vol.382
, pp. 80-83
-
-
Treanor, J.1
Goodman, L.2
De Sauvage, F.3
-
182
-
-
12144291333
-
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma
-
Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frebourg T, Munnich A, Lyonnet S, Delattre O, Amiel J (2004) Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet 74:761-764
-
(2004)
Am J Hum Genet
, vol.74
, pp. 761-764
-
-
Trochet, D.1
Bourdeaut, F.2
Janoueix-Lerosey, I.3
Deville, A.4
De Pontual, L.5
Schleiermacher, G.6
Coze, C.7
Philip, N.8
Frebourg, T.9
Munnich, A.10
Lyonnet, S.11
Delattre, O.12
Amiel, J.13
-
183
-
-
13844253252
-
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome
-
Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjold A, Laudier B, Svensson PJ, Uhrig S, Cole T, Munnich A, Gaultier C, Lyonnet S, Amiel J (2005) PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 76:421-426
-
(2005)
Am J Hum Genet
, vol.76
, pp. 421-426
-
-
Trochet, D.1
O'brien, L.M.2
Gozal, D.3
Trang, H.4
Nordenskjold, A.5
Laudier, B.6
Svensson, P.J.7
Uhrig, S.8
Cole, T.9
Munnich, A.10
Gaultier, C.11
Lyonnet, S.12
Amiel, J.13
-
184
-
-
6044259210
-
Primary granule release from human neutrophils is potentiated by soluble fibrinogen through a mechanism depending on multiple intracellular signaling pathways
-
Tuluc F, Garcia A, Bredetean O, Meshki J, Kunapuli SP (2004) Primary granule release from human neutrophils is potentiated by soluble fibrinogen
-
(2004)
Am J Physiol Cell Physiol
, vol.287
-
-
Tuluc, F.1
Garcia, A.2
Bredetean, O.3
Meshki, J.4
Kunapuli, S.P.5
-
185
-
-
0347123258
-
Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies
-
Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB (2004) Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. Am J Med Genet A 124:274-279
-
(2004)
Am J Med Genet A
, vol.124
, pp. 274-279
-
-
Venditti, C.P.1
Hunt, P.2
Donnenfeld, A.3
Zackai, E.4
Spinner, N.B.5
-
186
-
-
0037087384
-
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene
-
Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM (2002) ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. Am J Med Genet 108:223-225
-
(2002)
Am J Med Genet
, vol.108
, pp. 223-225
-
-
Verheij, J.B.1
Kunze, J.2
Osinga, J.3
Van Essen, A.J.4
Hofstra, R.M.5
-
187
-
-
0035065576
-
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease
-
Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M (2001) Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet 27:369-370
-
(2001)
Nat Genet
, vol.27
, pp. 369-370
-
-
Wakamatsu, N.1
Yamada, Y.2
Yamada, K.3
Ono, T.4
Nomura, N.5
Taniguchi, H.6
Kitoh, H.7
Mutoh, N.8
Yamanaka, T.9
Mushiake, K.10
Kato, K.11
Sonta, S.12
Nagaya, M.13
-
188
-
-
0032231459
-
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
-
Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD (1998) Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. Am J Hum Genet 63:55-62
-
(1998)
Am J Hum Genet
, vol.63
, pp. 55-62
-
-
Wassif, C.A.1
Maslen, C.2
Kachilele-Linjewile, S.3
Lin, D.4
Linck, L.M.5
Connor, W.E.6
Steiner, R.D.7
Porter, F.D.8
-
190
-
-
0023873321
-
Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3:7)(p21:q22)
-
Webb GC, Keith CG, Campbell NT (1988) Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3:7)(p21:q22). J Med Genet 25:125-127
-
(1988)
J Med Genet
, vol.25
, pp. 125-127
-
-
Webb, G.C.1
Keith, C.G.2
Campbell, N.T.3
-
191
-
-
0032557728
-
Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13
-
Weigel BJ, Pierpont ME, Young TL, Mutchler SB, Neglia JP (1998) Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13. Am J Med Genet 77:285-288
-
(1998)
Am J Med Genet
, vol.77
, pp. 285-288
-
-
Weigel, B.J.1
Pierpont, M.E.2
Young, T.L.3
Mutchler, S.B.4
Neglia, J.P.5
-
194
-
-
0032570866
-
Signal transduction pathways activated by RET oncoproteins in PC12 pheochromocytoma cells
-
Xing S, Furminger TL, Tong Q, Jhiang SM (1998) Signal transduction pathways activated by RET oncoproteins in PC12 pheochromocytoma cells. J Biol Chem 273:4909-4914
-
(1998)
J Biol Chem
, vol.273
, pp. 4909-4914
-
-
Xing, S.1
Furminger, T.L.2
Tong, Q.3
Jhiang, S.M.4
-
195
-
-
0036740185
-
Shah-Waardenburg syndrome and Dandy-Walker malformation: An autopsy report
-
Yoder BJ, Prayson RA (2002) Shah-Waardenburg syndrome and Dandy-Walker malformation: an autopsy report. Clin Neuropathol 21:236-240
-
(2002)
Clin Neuropathol
, vol.21
, pp. 236-240
-
-
Yoder, B.J.1
Prayson, R.A.2
-
196
-
-
0025991379
-
Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs
-
Yomo A, Taira T, Kondo I (1991) Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. Am J Med Genet 41:188-191
-
(1991)
Am J Med Genet
, vol.41
, pp. 188-191
-
-
Yomo, A.1
Taira, T.2
Kondo, I.3
-
197
-
-
0035862753
-
GDNF is a chemoattractant for enteric neural cells
-
Young HM, Hearn CJ, Farlie PG, Canty AJ, Thomas PQ, Newgreen DF (2001) GDNF is a chemoattractant for enteric neural cells. Dev Biol 229:503-516
-
(2001)
Dev Biol
, vol.229
, pp. 503-516
-
-
Young, H.M.1
Hearn, C.J.2
Farlie, P.G.3
Canty, A.J.4
Thomas, P.Q.5
Newgreen, D.F.6
-
198
-
-
0037291480
-
Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: Predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome
-
Zaahl MG, du Plessis L, Warnich L, Kotze MJ, Moore SW (2003) Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: Predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. Mol Cell Probes 17:49-54
-
(2003)
Mol Cell Probes
, vol.17
, pp. 49-54
-
-
Zaahl, M.G.1
Du Plessis, L.2
Warnich, L.3
Kotze, M.J.4
Moore, S.W.5
-
199
-
-
0028174023
-
Defects in the kidney and enteric system of mice lacking the tyrosine-kinase receptor ret
-
Schuchardt A, D'Agati, Larsson-Blomberg L, Constanini F, Pachnis V. Defects in the kidney and enteric system of mice lacking the tyrosine-kinase receptor ret. Nature 1994; 367:380-383.
-
(1994)
Nature
, vol.367
, pp. 380-383
-
-
Schuchardt, A.1
D'Agati2
Larsson-Blomberg, L.3
Constanini, F.4
Pachnis, V.5
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