-
1
-
-
79959780761
-
De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation
-
Bartels, E., Draaken, M., Kazmierczak, B., Spranger, S., Schramm, C., Baudisch, F., Reutter, H. (2011). De novo partial trisomy 18p and partial monosomy 18q in a patient with anorectal malformation. Cytogenetic and Genome Research, 134, 243-248
-
(2011)
Cytogenetic and Genome Research
, vol.134
, pp. 243-248
-
-
Bartels, E.1
Draaken, M.2
Kazmierczak, B.3
Spranger, S.4
Schramm, C.5
Baudisch, F.6
Reutter, H.7
-
2
-
-
0023263340
-
Anorectal malformation: Familial aspects and associated anomalies
-
Boocock, G. R., & Donnai, D. (1987). Anorectal malformation: Familial aspects and associated anomalies. Archives of Disease in Childhood, 62, 576-579
-
(1987)
Archives of Disease in Childhood
, vol.62
, pp. 576-579
-
-
Boocock, G.R.1
Donnai, D.2
-
3
-
-
11144243414
-
Clinical and molecular characterization of the bladder exstrophy-epispadias complex:Analysis of 232 families
-
Boyadjiev, S. A., Dodson, J. L., Radford, C. L., Ashrafi, G. H., Beaty, T. H., Mathews, R. I., Gearhart, J. P. (2004). Clinical and molecular characterization of the bladder exstrophy-epispadias complex:Analysis of 232 families.BJU International, 94, 1337-1343
-
(2004)
BJU International
, vol.94
, pp. 1337-1343
-
-
Boyadjiev, S.A.1
Dodson, J.L.2
Radford, C.L.3
Ashrafi, G.H.4
Beaty, T.H.5
Mathews, R.I.6
Gearhart, J.P.7
-
4
-
-
84856412296
-
Differences in copy number variation between discordant monozygotic twins as a model for exploring chromosomal mosaicism in congenital heart defects
-
Breckpot, J., Thienpont, B., Gewillig, M., Allegaert, K., Vermeesch, J. R., & Devriendt, K. (2012). Differences in copy number variation between discordant monozygotic twins as a model for exploring chromosomal mosaicism in congenital heart defects.Molecular Syndromology, 2, 81-87
-
(2012)
Molecular Syndromology
, vol.2
, pp. 81-87
-
-
Breckpot, J.1
Thienpont, B.2
Gewillig, M.3
Allegaert, K.4
Vermeesch, J.R.5
Devriendt, K.6
-
5
-
-
0035888110
-
Descriptive epidemiology of isolated anal anomalies: A survey of 4.6 million births in Europe
-
EUROCATWorking Group
-
Cuschieri, A., & EUROCATWorking Group. (2001). Descriptive epidemiology of isolated anal anomalies: A survey of 4.6 million births in Europe. American Journal of Medical Genetics, 103, 207-215
-
(2001)
American Journal of Medical Genetics
, vol.103
, pp. 207-215
-
-
Cuschieri, A.1
-
6
-
-
77950629694
-
Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy
-
Draaken, M., Reutter, H., Schramm, C., Bartels, E., Boemers, T.M., Ebert, A. K., Ludwig, M. (2010). Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. European Journal ofMedicalGenetics, 53, 55-60
-
(2010)
European Journal ofMedicalGenetics
, vol.53
, pp. 55-60
-
-
Draaken, M.1
Reutter, H.2
Schramm, C.3
Bartels, E.4
Boemers, T.M.5
Ebert, A.K.6
Ludwig, M.7
-
7
-
-
84859865967
-
The ucsc genome browser database: Extensions and updates 2011
-
Dreszer, T. R., Karolchik, D., Zweig, A. S., Hinrichs, A. S., Raney, B. J., Kuhn, R. M., Kent,W. J. (2012). The UCSC Genome Browser database: Extensions and updates 2011. Nucleic Acids Research, 40, 918-923
-
(2012)
Nucleic Acids Research
, vol.40
, pp. 918-923
-
-
Dreszer, T.R.1
Karolchik, D.2
Zweig, A.S.3
Hinrichs, A.S.4
Raney, B.J.5
Kuhn, R.M.6
Kent, W.J.7
-
8
-
-
33845920320
-
Increased heritability of certain types of anorectal malformations
-
Falcone Jr, R. A., Levitt, M. A., Peña, A., & Bates, M. (2007). Increased heritability of certain types of anorectal malformations. Journal of Pediatric Surgery, 42, 124-127
-
(2007)
Journal of Pediatric Surgery
, vol.42
, pp. 124-127
-
-
Falcone Jr., R.A.1
Levitt, M.A.2
Peña, A.3
Bates, M.4
-
9
-
-
64149099583
-
Decipher: Database of chromosomal imbalance and phenotype in humans using ensembl resources
-
Firth, H. V., Richards, S. M., Bevan, A. P., Clayton, S., Corpas,M., Rajan, D., Carter,N. P. (2009). DECIPHER: Database of chromosomal imbalance and phenotype in humans using Ensembl resources. American Journal ofMedical Genetics, 84, 524-533
-
(2009)
American Journal ofMedical Genetics
, vol.84
, pp. 524-533
-
-
Firth, H.V.1
Richards, S.M.2
Bevan, A.P.3
Clayton S., CorpasM.4
Rajan, D.5
Carter, N.P.6
-
10
-
-
0001836247
-
Exstrophy, epispadias, and other bladder anomalies
-
In P. C. Walsh, A. B. Retik, E. D. Vaughan & A. J. Wein (Eds (8th ed.). Philadelphia, PA:WB Saunders
-
Gearhart, J. P. (2002). Exstrophy, epispadias, and other bladder anomalies. In P. C. Walsh, A. B. Retik, E. D. Vaughan & A. J. Wein (Eds.), Campbell's urology (8th ed., pp. 2136-2196). Philadelphia, PA:WB Saunders
-
(2002)
Campbell's Urology
, pp. 2136-2196
-
-
Gearhart, J.P.1
-
11
-
-
0033056854
-
Monozygotic twin brothers with the fragile X syndrome: Different CGG repeats and different mental capacities
-
Helderman-Van den Enden, A. T., Maaswinkel-Mooij, P. D., Hoogendoorn, E., Willemsen, R., Maat-Kievit, J. A., Losekoot, M., & Oostra, B. A. (1999). Monozygotic twin brothers with the fragile X syndrome: Different CGG repeats and different mental capacities. Journal of Medical Genetics, 36, 253-257
-
(1999)
Journal of Medical Genetics
, vol.36
, pp. 253-257
-
-
Helderman-Van Den Enden, A.T.1
Maaswinkel-Mooij, P.D.2
Hoogendoorn, E.3
Willemsen, R.4
Maat-Kievit, J.A.5
Losekoot, M.6
Oostra, B.A.7
-
12
-
-
27444441265
-
Preliminary report on the internationalconference for thedevelopment of standards for the treatment of anorectal malformations
-
Holschneider, A.,Hutson, J., Peña, A.,Beket, E., Chatterjee, S., Coran, A., Kunst, M. (2005). Preliminary report on the InternationalConference for theDevelopment of Standards for the Treatment of Anorectal Malformations. Journal of Pediatric Surgery, 40, 1521-1526
-
(2005)
Journal of Pediatric Surgery
, vol.40
, pp. 1521-1526
-
-
Holschneider, A.1
Hutson, J.2
Peña, A.3
Beket, E.4
Chatterjee, S.5
Coran, A.6
Kunst, M.7
-
13
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate,A. J., Feuk,L.,Rivera,M.N., Listewnik,M. L.,Donahoe, P. K., Qi, Y., Lee, C. (2004). Detection of large-scale variation in the human genome. Nature Genetics, 36, 949-951
-
(2004)
Nature Genetics
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Lee, C.7
-
14
-
-
59249107052
-
DNAmethylation profiles in monozygotic and dizygotic twins
-
Kaminsky, Z. A., Tang, T., Wang, S. C., Ptak, C., Oh, G. H., Wong, A.H., Petronis,A. (2009).DNAmethylation profiles in monozygotic and dizygotic twins. Nature Genetics, 41, 240-245
-
(2009)
Nature Genetics
, vol.41
, pp. 240-245
-
-
Kaminsky, Z.A.1
Tang, T.2
Wang, S.C.3
Ptak, C.4
Oh, G.H.5
Wong, A.H.6
Petronis, A.7
-
15
-
-
0035313901
-
OEIS complex (omphaloceleexstrophy-imperforate anus-spinal defects): A review of 14 cases
-
Keppler-Noreuil, K. M. (2001). OEIS complex (omphaloceleexstrophy- imperforate anus-spinal defects): A review of 14 cases. American Journal of Medical Genetics, 99, 271-279
-
(2001)
American Journal of Medical Genetics
, vol.99
, pp. 271-279
-
-
Keppler-Noreuil, K.M.1
-
16
-
-
18644374446
-
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
-
Kondo,S., Schutte, B.C.,Richardson, R. J.,Bjork,B.C.,Knight, A. S., Watanabe, Y., Murray, J. C. (2002). Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nature Genetics, 32, 285-289
-
(2002)
Nature Genetics
, vol.32
, pp. 285-289
-
-
Kondo, S.1
Schutte, B.C.2
Richardson, R.J.3
Bjork, B.C.4
Knight, A.S.5
Watanabe, Y.6
Murray, J.C.7
-
17
-
-
0028013326
-
FragileXsyndrome and the (CGG)nmutation: Two families with discordant MZ twins
-
Kruyer, H.,Mila, M., Glover, G., Carbonell, P., Ballesta, F., & Estivill,X. (1994). FragileXsyndrome and the (CGG)nmutation: Two families with discordant MZ twins. American Journal of Medical Genetics, 54, 437-442
-
(1994)
American Journal of Medical Genetics
, vol.54
, pp. 437-442
-
-
Kruyer, H.1
Mila, M.2
Glover, G.3
Carbonell, P.4
Ballesta, F.5
Estivill, X.6
-
18
-
-
0035710746
-
Analysis of relative gene expression data using real-Time quantitative PCR and the 2(-Delta Delta C(T)) method
-
Livak, K. J., & Schmittgen, T. D. (2001). Analysis of relative gene expression data using real-Time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods, 25, 402-408
-
(2001)
Methods
, vol.25
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
19
-
-
67649396071
-
Bladder exstrophy-epispadias complex
-
Ludwig, M., Ching, B., Reutter, H., & Boyadjiev, S. A. (2009). Bladder exstrophy-epispadias complex. Birth Defects Research Part A: Clinical and Molecular Teratology, 85, 509-522
-
(2009)
Birth Defects Research Part A: Clinical and Molecular Teratology
, vol.85
, pp. 509-522
-
-
Ludwig, M.1
Ching, B.2
Reutter, H.3
Boyadjiev, S.A.4
-
20
-
-
80054892453
-
Chromosomal anomalies in the etiology of anorectal malformations
-
Marcelis, C., de Blaauw, I., & Brunner, H. (2011). Chromosomal anomalies in the etiology of anorectal malformations: Areview.American Journal ofMedicalGenetics PartA, 155A, 2692-2704
-
(2011)
Areview.American Journal ofMedicalGenetics PartA
, vol.155
, pp. 2692-2704
-
-
Marcelis, C.1
De Blaauw, I.2
Brunner, H.3
-
21
-
-
80054755089
-
Phenotype severity in the bladder exstrophy-epispadias complex: Analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe
-
Reutter,H., Boyadjiev, S. A.,Gambhir, L., Ebert, A. K., Rösch, W.H., Stein, R., Jenetzky, E. (2011). Phenotype severity in the bladder exstrophy-epispadias complex: Analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe. Journal of Pediatrics, 159, 825-831
-
(2011)
Journal of Pediatrics
, vol.159
, pp. 825-831
-
-
Reutter, H.1
Boyadjiev, S.A.2
Gambhir, L.3
Ebert, A.K.4
Rösch, W.H.5
Stein, R.6
Jenetzky, E.7
-
22
-
-
79951946271
-
De novo microduplication at 22q11.21 in a patient with VACTERL association
-
Schramm, C., Draaken, M., Bartels, E., Boemers, T. M., Aretz, S., Brockschmidt, F. F., Reutter, H. (2011a). De novo microduplication at 22q11.21 in a patient with VACTERL association. European Journal ofMedical Genetics, 54, 9-13
-
(2011)
European Journal ofMedical Genetics
, vol.54
, pp. 9-13
-
-
Schramm, C.1
Draaken, M.2
Bartels, E.3
Boemers, T.M.4
Aretz, S.5
Brockschmidt, F.F.6
Reutter, H.7
-
23
-
-
79251513635
-
De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation
-
Schramm, C., Draaken, M., Bartels, E., Boemers, T. M., Schmiedeke, E.,Grasshoff-Derr, S., Reutter, H. (2011b). De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation. American Journal of Medical Genetics Part A, 155A, 445-449
-
(2011)
American Journal of Medical Genetics Part A
, vol.155
, pp. 445-449
-
-
Schramm, C.1
Draaken, M.2
Bartels, E.3
Boemers, T.M.4
Schmiedeke, E.5
Grasshoff-Derr, S.6
Reutter, H.7
-
24
-
-
0021210530
-
The inheritance of the exstrophy-epispadias complex
-
Shapiro, E., Lepor,H., & Jeffs, R. D. (1984). The inheritance of the exstrophy-epispadias complex. Journal of Urology, 132, 308-310
-
(1984)
Journal of Urology
, vol.132
, pp. 308-310
-
-
Shapiro E., LeporH.1
Jeffs, R.D.2
-
25
-
-
55149112110
-
Dichorionic triamniotic triplet pregnancy with monozygotic twins discordant for trisomy 13 after preimplantation genetic screening: Case report
-
Taylor, D.M., Thum,M. Y., & Abdalla,H. (2008). Dichorionic triamniotic triplet pregnancy with monozygotic twins discordant for trisomy 13 after preimplantation genetic screening: Case report. Fertility and Sterility, 90, 2017.e5-e9
-
(2008)
Fertility and Sterility
, vol.90
, Issue.2017
-
-
Taylor, D.M.1
Thum, M.Y.2
Abdalla, H.3
-
26
-
-
52649109709
-
Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR
-
Yamazawa, K., Kagami, M., Fukami, M., Matsubara, K., & Ogata, T. (2008). Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR. Journal of Human Genetics, 53, 950-955
-
(2008)
Journal of Human Genetics
, vol.53
, pp. 950-955
-
-
Yamazawa, K.1
Kagami, M.2
Fukami, M.3
Matsubara, K.4
Ogata, T.5
-
27
-
-
77955694802
-
Identical but not the same: The value of discordant monozygotic twins in genetic research
-
Zwijnenburg, P. J., Meijers-Heijboer, H., & Boomsma, D. I. (2010). Identical but not the same: The value of discordant monozygotic twins in genetic research. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 153B, 1134-1149
-
(2010)
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
, vol.153
, pp. 1134-1149
-
-
Zwijnenburg, P.J.1
Meijers-Heijboer, H.2
Boomsma, D.I.3
-
28
-
-
79955956042
-
Parental risk factors and anorectalmalformations: Systematic review and meta-Analysis
-
Zwink, N., Jenetzky, E., & Brenner, H. (2011). Parental risk factors and anorectalmalformations: Systematic review and meta-Analysis. Orphanet Journal of Rare Diseases, 6, 25
-
(2011)
Orphanet Journal of Rare Diseases
, vol.6
, pp. 25
-
-
Zwink, N.1
Jenetzky, E.2
Brenner, H.3
|