-
1
-
-
0033926438
-
Involvement of the HLXB9 homeobox gene in Currarino syndrome
-
Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Jasonni V, Torre M, Ferrari M, Tsui LC, Scherer SW. 2000. Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 66:312-319.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 312-319
-
-
Belloni, E.1
Martucciello, G.2
Verderio, D.3
Ponti, E.4
Seri, M.5
Jasonni, V.6
Torre, M.7
Ferrari, M.8
Tsui, L.C.9
Scherer, S.W.10
-
2
-
-
0032751788
-
Polytopic anomalies with agenesis of the lower vertebral column
-
Bohring A, Lewin SO, Reynolds JF, Voigtlander T, Rittinger O, Carey JC, Kopernik M, Smith R, Zackai EH, Leonard NJ, Gritter HL, Bamforth JS, Okun N, McLeod DR, Super M, Powell P, Mundlos S, Hennekam RC, van Langen IM, Viskochil DH, Wiedemann HR, Opitz JM. 1999. Polytopic anomalies with agenesis of the lower vertebral column. Am J Med Genet 87:99-114.
-
(1999)
Am J Med Genet
, vol.87
, pp. 99-114
-
-
Bohring, A.1
Lewin, S.O.2
Reynolds, J.F.3
Voigtlander, T.4
Rittinger, O.5
Carey, J.C.6
Kopernik, M.7
Smith, R.8
Zackai, E.H.9
Leonard, N.J.10
Gritter, H.L.11
Bamforth, J.S.12
Okun, N.13
McLeod, D.R.14
Super, M.15
Powell, P.16
Mundlos, S.17
Hennekam, R.C.18
Van Langen, I.M.19
Viskochil, D.H.20
Wiedemann, H.R.21
Opitz, J.M.22
more..
-
3
-
-
0024294886
-
Bilateral renal dysplasia and hypoplasia in a foal with an imperforate anus
-
Brown CM, Parks AH, Mullaney TP, Sonea I, Stickle RL. 1988. Bilateral renal dysplasia and hypoplasia in a foal with an imperforate anus. Vet Rec 122:91-92.
-
(1988)
Vet Rec
, vol.122
, pp. 91-92
-
-
Brown, C.M.1
Parks, A.H.2
Mullaney, T.P.3
Sonea, I.4
Stickle, R.L.5
-
4
-
-
0015607748
-
Urologic complications of imperforate anus
-
Carlton Jr CE, Harberg FJ, Fry FM. 1973. Urologic complications of imperforate anus. J Urol 109:737-739.
-
(1973)
J Urol
, vol.109
, pp. 737-739
-
-
Carlton C.E., Jr.1
Harberg, F.J.2
Fry, F.M.3
-
5
-
-
0036488107
-
Genetic control of caudal development
-
Catala M. 2002. Genetic control of caudal development. Clin Genet 61:89-96.
-
(2002)
Clin Genet
, vol.61
, pp. 89-96
-
-
Catala, M.1
-
6
-
-
0031009717
-
Axial (HNF3beta) and retinoic acid receptors are regulators of the zebrafish sonic hedgehog promoter
-
Chang BE, Blader P, Fischer N, Ingham PW, Strahle U. 1997. Axial (HNF3beta) and retinoic acid receptors are regulators of the zebrafish sonic hedgehog promoter. Embo J 16:3955-3964.
-
(1997)
Embo J
, vol.16
, pp. 3955-3964
-
-
Chang, B.E.1
Blader, P.2
Fischer, N.3
Ingham, P.W.4
Strahle, U.5
-
7
-
-
0031736365
-
Isochromosome 18q in a fetus with congenital megacystis, intra-uterine growth retardation and cloacal dysgenesis sequence
-
Chen CP, Chern SR, Lee CC, Town DD. 1998. Isochromosome 18q in a fetus with congenital megacystis, intra-uterine growth retardation and cloacal dysgenesis sequence. Prenat Diagn 18:1068-1074.
-
(1998)
Prenat Diagn
, vol.18
, pp. 1068-1074
-
-
Chen, C.P.1
Chern, S.R.2
Lee, C.C.3
Town, D.D.4
-
8
-
-
0024409817
-
Transverse fusion of the renal pelvis and single ureter
-
Currarino G, Weisbruch GJ. 1989. Transverse fusion of the renal pelvis and single ureter. Urol Radiol 11:88-91.
-
(1989)
Urol Radiol
, vol.11
, pp. 88-91
-
-
Currarino, G.1
Weisbruch, G.J.2
-
9
-
-
9444270502
-
The various types of anorectal fistula in male imperforate anus
-
Currarino G. 1996. The various types of anorectal fistula in male imperforate anus. Pediatr Radiol 26:512-522.
-
(1996)
Pediatr Radiol
, vol.26
, pp. 512-522
-
-
Currarino, G.1
-
10
-
-
0030279345
-
Persistent cloaca and caudal spinal agenesis in calves: Three cases
-
Dean CE, Cebra CK, Frank AA. 1996. Persistent cloaca and caudal spinal agenesis in calves: Three cases. Vet Pathol 33:711-712.
-
(1996)
Vet Pathol
, vol.33
, pp. 711-712
-
-
Dean, C.E.1
Cebra, C.K.2
Frank, A.A.3
-
11
-
-
0033009643
-
Analysis of 1,992 patients with anorectal malformations over the past two decades in Japan
-
Steering Committee of Japanese Study Group of Anorectal Anomalies
-
Endo M, Hayashi A, Ishihara M, Maie M, Nagasaki A, Nishi T, Saeki M. 1999. Analysis of 1,992 patients with anorectal malformations over the past two decades in Japan. Steering Committee of Japanese Study Group of Anorectal Anomalies. J Pediatr Surg 34:435-441.
-
(1999)
J Pediatr Surg
, vol.34
, pp. 435-441
-
-
Endo, M.1
Hayashi, A.2
Ishihara, M.3
Maie, M.4
Nagasaki, A.5
Nishi, T.6
Saeki, M.7
-
12
-
-
0023640519
-
Urorectal septum malformation sequence. Report of six cases and embryological analysis
-
Escobar LF, Weaver DD, Bixler D, Hodes ME, Mitchell M. 1987. Urorectal septum malformation sequence. Report of six cases and embryological analysis. Am J Dis Child 141:1021-1024.
-
(1987)
Am J Dis Child
, vol.141
, pp. 1021-1024
-
-
Escobar, L.F.1
Weaver, D.D.2
Bixler, D.3
Hodes, M.E.4
Mitchell, M.5
-
13
-
-
0033625433
-
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene
-
Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T. 2000. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am J Hum Genet 66:1504-1515.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1504-1515
-
-
Hagan, D.M.1
Ross, A.J.2
Strachan, T.3
Lynch, S.A.4
Ruiz-Perez, V.5
Wang, Y.M.6
Scambler, P.7
Custard, E.8
Reardon, W.9
Hassan, S.10
Nixon, P.11
Papapetrou, C.12
Winter, R.M.13
Edwards, Y.14
Morrison, K.15
Barrow, M.16
Cordier-Alex, M.P.17
Correia, P.18
Galvin-Parton, P.A.19
Gaskill, S.20
Gaskin, K.J.21
Garcia-Minaur, S.22
Gereige, R.23
Hayward, R.24
Homfray, T.25
more..
-
14
-
-
0014806943
-
Urogenital anomalies and complications associated wtih imperforate anus
-
Hall JW, Tank ES, Lapides J. 1970. Urogenital anomalies and complications associated wtih imperforate anus. J Urol 103:810-814.
-
(1970)
J Urol
, vol.103
, pp. 810-814
-
-
Hall, J.W.1
Tank, E.S.2
Lapides, J.3
-
15
-
-
0026339327
-
The effects of lung distension, oxygenation, and gestational age on fetal behavior and breathing movements in sheep
-
Hasan SU, Rigaux A. 1991. The effects of lung distension, oxygenation, and gestational age on fetal behavior and breathing movements in sheep. Pediatr Res 30:193-201.
-
(1991)
Pediatr Res
, vol.30
, pp. 193-201
-
-
Hasan, S.U.1
Rigaux, A.2
-
16
-
-
0015432907
-
The embryology of high anorectal and associated genitourinary anomalies in the female
-
Johnson RJ, Palken M, Derrick W, Bill AH. 1972. The embryology of high anorectal and associated genitourinary anomalies in the female. Surg Gynecol Obstet 135:759-762.
-
(1972)
Surg Gynecol Obstet
, vol.135
, pp. 759-762
-
-
Johnson, R.J.1
Palken, M.2
Derrick, W.3
Bill, A.H.4
-
17
-
-
0015952492
-
Caudal mesoderm pattern of anomalies: From renal agenesis to sirenomelia
-
Kallen B, Winberg J. 1974. Caudal mesoderm pattern of anomalies: From renal agenesis to sirenomelia. Teratology 9:99-111.
-
(1974)
Teratology
, vol.9
, pp. 99-111
-
-
Kallen, B.1
Winberg, J.2
-
18
-
-
0035141226
-
Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway
-
Kim PC, Mo R, Hui CC. 2001. Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway. J Pediatr Surg 36:381-384.
-
(2001)
J Pediatr Surg
, vol.36
, pp. 381-384
-
-
Kim, P.C.1
Mo, R.2
Hui, C.C.3
-
19
-
-
0033966897
-
New mouse models of congenital anorectal malformations
-
Kimmel SG, Mo R, Hui CC, Kim PC. 2000. New mouse models of congenital anorectal malformations. J Pediatr Surg 35:227-231.
-
(2000)
J Pediatr Surg
, vol.35
, pp. 227-231
-
-
Kimmel, S.G.1
Mo, R.2
Hui, C.C.3
Kim, P.C.4
-
20
-
-
0030853209
-
Concordance for cloacal dysgenesis
-
Kramer RL, Johnson MP, Qureshi F, Jacques SM, Yaron Y, Evans MI. 1997. Concordance for cloacal dysgenesis. Fetal Diagn Ther 12:279-282.
-
(1997)
Fetal Diagn Ther
, vol.12
, pp. 279-282
-
-
Kramer, R.L.1
Johnson, M.P.2
Qureshi, F.3
Jacques, S.M.4
Yaron, Y.5
Evans, M.I.6
-
22
-
-
0011752066
-
Rumplessness of chicken embryos produced by injection of insulin and other chemicals
-
Landauer W. 1945. Rumplessness of chicken embryos produced by injection of insulin and other chemicals. J Exp Zool 98:65-77.
-
(1945)
J Exp Zool
, vol.98
, pp. 65-77
-
-
Landauer, W.1
-
23
-
-
0033948020
-
Cloacal and urogenital malformations in adriamycin-exposed rat fetuses
-
Liu MI, Hutson JM. 2000. Cloacal and urogenital malformations in adriamycin-exposed rat fetuses. BJU Int 86:107-112.
-
(2000)
BJU Int
, vol.86
, pp. 107-112
-
-
Liu, M.I.1
Hutson, J.M.2
-
24
-
-
0033852321
-
Autosomal dominant sacral agenesis: Currarino syndrome
-
Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. 2000. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 37: 561-566.
-
(2000)
J Med Genet
, vol.37
, pp. 561-566
-
-
Lynch, S.A.1
Wang, Y.2
Strachan, T.3
Burn, J.4
Lindsay, S.5
-
25
-
-
0034645507
-
Anal atresia, vertebral, genital, and urinary tract anomalies: A primary polytopic developmental field defect identified through an epidemiological analysis of associations
-
Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E. 2000. Anal atresia, vertebral, genital, and urinary tract anomalies: A primary polytopic developmental field defect identified through an epidemiological analysis of associations. Am J Med Genet 95:169-173.
-
(2000)
Am J Med Genet
, vol.95
, pp. 169-173
-
-
Martinez-Frias, M.L.1
Bermejo, E.2
Rodriguez-Pinilla, E.3
-
26
-
-
0003436550
-
-
Baltimore, MD: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University; Bethesda, MD, National Library of Medicine
-
McKusick VA. 2002. Online Mendelian Inheritance in Man, OMIM™. Baltimore, MD: McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University; Bethesda, MD: National Center for Biotechnology Information, National Library of Medicine. http://www.ncbi.nlm.nih.gov/omim/.
-
(2002)
Online Mendelian Inheritance in Man, OMIM™
-
-
McKusick, V.A.1
-
27
-
-
0028065450
-
Cloacal and urogenital abnormalities induced by etretinate in mice
-
Mesrobian HG, Sessions RP, Lloyd RA, Sulik KK. 1994. Cloacal and urogenital abnormalities induced by etretinate in mice. J Urol 152:675-678.
-
(1994)
J Urol
, vol.152
, pp. 675-678
-
-
Mesrobian, H.G.1
Sessions, R.P.2
Lloyd, R.A.3
Sulik, K.K.4
-
28
-
-
0034880142
-
Anorectal malformations caused by defects in sonic hedgehog signaling
-
Mo R, Kim JH, Zhang J, Chiang C, Hui CC, Kim PC. 2001. Anorectal malformations caused by defects in sonic hedgehog signaling. Am J Pathol 159:765-774.
-
(2001)
Am J Pathol
, vol.159
, pp. 765-774
-
-
Mo, R.1
Kim, J.H.2
Zhang, J.3
Chiang, C.4
Hui, C.C.5
Kim, P.C.6
-
29
-
-
0033844899
-
Suppression of polydactyly of the Gli3 mutant (extra toes) by deltaEF1 homozygous mutation
-
Moribe H, Takagi T, Kondoh H, Higashi Y. 2000. Suppression of polydactyly of the Gli3 mutant (extra toes) by deltaEF1 homozygous mutation. Dev Growth Differ 42:367-376.
-
(2000)
Dev Growth Differ
, vol.42
, pp. 367-376
-
-
Moribe, H.1
Takagi, T.2
Kondoh, H.3
Higashi, Y.4
-
30
-
-
0027428665
-
Blastogenesis and the "primary field" in human development
-
Opitz JM. 1993. Blastogenesis and the "primary field" in human development. Birth Defects Orig Attic Ser 29:3-37.
-
(1993)
Birth Defects Orig Attic Ser
, vol.29
, pp. 3-37
-
-
Opitz, J.M.1
-
31
-
-
0032708996
-
Caudal dysgenesis in staged human embryos: Carnegie stages 16-23
-
Padmanabhan R, Naruse I, Shiota K. 1999. Caudal dysgenesis in staged human embryos: Carnegie stages 16-23. Am J Med Genet 87:115-127.
-
(1999)
Am J Med Genet
, vol.87
, pp. 115-127
-
-
Padmanabhan, R.1
Naruse, I.2
Shiota, K.3
-
32
-
-
0021461569
-
Multiple visceral congenital anomalies in a calf
-
Prieur DJ, Dargatz DA. 1984. Multiple visceral congenital anomalies in a calf. Vet Pathol 21:452-454.
-
(1984)
Vet Pathol
, vol.21
, pp. 452-454
-
-
Prieur, D.J.1
Dargatz, D.A.2
-
34
-
-
17344363829
-
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
-
Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T. 1998. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 20:358-361.
-
(1998)
Nat Genet
, vol.20
, pp. 358-361
-
-
Ross, A.J.1
Ruiz-Perez, V.2
Wang, Y.3
Hagan, D.M.4
Scherer, S.5
Lynch, S.A.6
Lindsay, S.7
Custard, E.8
Belloni, E.9
Wilson, D.I.10
Wadey, R.11
Goodman, F.12
Orstavik, K.H.13
Monclair, T.14
Robson, S.15
Reardon, W.16
Burn, J.17
Scambler, P.18
Strachan, T.19
-
35
-
-
0032808138
-
Gli proteins encode context-dependent positive and negative functions: Implications for development and disease
-
Ruiz i Altaba A. 1999. Gli proteins encode context-dependent positive and negative functions: Implications for development and disease. Development 126:3205-3216.
-
(1999)
Development
, vol.126
, pp. 3205-3216
-
-
Ruiz i Altaba, A.1
-
37
-
-
0021132248
-
The pathogenesis of hereditary congenital malformations of the anorectum in the pig
-
Van der Putte SC, Neeteson FA. 1984. The pathogenesis of hereditary congenital malformations of the anorectum in the pig. Acta Morphol Neerl Scand 22:17-40.
-
(1984)
Acta Morphol Neerl Scand
, vol.22
, pp. 17-40
-
-
Van der Putte, S.C.1
Neeteson, F.A.2
-
38
-
-
0032859540
-
Sacral dysgenesis associated with terminal deletion of chromosome 7q: A report of two families
-
Wang J, Spitz L, Hayward R, Kiely E, Hall CM, O'Donoghue DP, Palmer R, Goodman FR, Scambler PJ, Winter RM, Reardon W. 1999. Sacral dysgenesis associated with terminal deletion of chromosome 7q: A report of two families. Eur J Pediatr 158:902-905.
-
(1999)
Eur J Pediatr
, vol.158
, pp. 902-905
-
-
Wang, J.1
Spitz, L.2
Hayward, R.3
Kiely, E.4
Hall, C.M.5
O'Donoghue, D.P.6
Palmer, R.7
Goodman, F.R.8
Scambler, P.J.9
Winter, R.M.10
Reardon, W.11
-
39
-
-
0031466723
-
Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts
-
Warot X, Fromental-Ramain C, Fraulob V, Chambon P, Dolle P. 1997. Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts. Development 124:4781-4791.
-
(1997)
Development
, vol.124
, pp. 4781-4791
-
-
Warot, X.1
Fromental-Ramain, C.2
Fraulob, V.3
Chambon, P.4
Dolle, P.5
-
40
-
-
0029931302
-
Insulin treatment fails to abolish the teratogenic potential of serum from diabetic rats
-
Wentzel P, Eriksson UJ. 1996. Insulin treatment fails to abolish the teratogenic potential of serum from diabetic rats. Eur J Endocrinol 134:459-466.
-
(1996)
Eur J Endocrinol
, vol.134
, pp. 459-466
-
-
Wentzel, P.1
Eriksson, U.J.2
-
41
-
-
0030734779
-
Urorectal septum malformation sequence: Report of thirteen additional cases and review of the literature
-
Wheeler PG, Weaver DD, Obeime MO, Vance GH, Bull MJ, Escobar LF. 1997. Urorectal septum malformation sequence: Report of thirteen additional cases and review of the literature. Am J Med Genet 73:456-462.
-
(1997)
Am J Med Genet
, vol.73
, pp. 456-462
-
-
Wheeler, P.G.1
Weaver, D.D.2
Obeime, M.O.3
Vance, G.H.4
Bull, M.J.5
Escobar, L.F.6
-
42
-
-
0015880916
-
Urologic abnormalities associated with imperforate anus
-
Wiener ES, Kiesewetter WB. 1973. Urologic abnormalities associated with imperforate anus. J Pediatr Surg 8:151-157.
-
(1973)
J Pediatr Surg
, vol.8
, pp. 151-157
-
-
Wiener, E.S.1
Kiesewetter, W.B.2
|