-
1
-
-
0018835887
-
Tertiary trisomy (22q11q),47,+der(22),t(11;22)
-
Biederman BM, Lin CC, Lowry RB, Somerville R. 1980. Tertiary trisomy (22q11q),47,+der(22),t(11;22). Hum Genet 53(2): 173-177.
-
(1980)
Hum Genet
, vol.53
, Issue.2
, pp. 173-177
-
-
Biederman, B.M.1
Lin, C.C.2
Lowry, R.B.3
Somerville, R.4
-
2
-
-
0017377525
-
Deletion of the short arm of chromosome 4 from a subject with Wolfs syndrome. Repository identification No. GM-72
-
Breg WR, Aronson MM, Greene AE, Coriell LL. 1977. Deletion of the short arm of chromosome 4 from a subject with Wolfs syndrome. Repository identification No. GM-72. Cytogenet Cell Genet 18: 307-308.
-
(1977)
Cytogenet Cell Genet
, vol.18
, pp. 307-308
-
-
Breg, W.R.1
Aronson, M.M.2
Greene, A.E.3
Coriell, L.L.4
-
3
-
-
0032231333
-
A chromosomal deletion map of human malformations
-
Brewer C, Holloway S, Zawalnyski P, Schinzel A, Fitzpatrick D. 1998. A chromosomal deletion map of human malformations. Am J Hum Genet 63: 1153-1159.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1153-1159
-
-
Brewer, C.1
Holloway, S.2
Zawalnyski, P.3
Schinzel, A.4
Fitzpatrick, D.5
-
4
-
-
0031725482
-
De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia
-
Chen CP, Chern SR, Lee CC, Chen WL, Chen MH, Chang KM. 1998. De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia. J Med Genet 35: 1050-1053.
-
(1998)
J Med Genet
, vol.35
, pp. 1050-1053
-
-
Chen, C.P.1
Chern, S.R.2
Lee, C.C.3
Chen, W.L.4
Chen, M.H.5
Chang, K.M.6
-
5
-
-
0034102641
-
Prenatal diagnosis of inherited satellited non-acrocentric chromosomes
-
Chen CP, Devriendt K, Chern SR, Lee CC, Wang W, Lin SP. 2000. Prenatal diagnosis of inherited satellited non-acrocentric chromosomes. Prenat Diag 20: 384-389.
-
(2000)
Prenat Diag
, vol.20
, pp. 384-389
-
-
Chen, C.P.1
Devriendt, K.2
Chern, S.R.3
Lee, C.C.4
Wang, W.5
Lin, S.P.6
-
6
-
-
0028281772
-
A practical application of fluorescent in situ hybridization to the Wolf-Hirschhorn syndrome
-
Fagan K, Bagric H, Colley P, Partington M. 1994. A practical application of fluorescent in situ hybridization to the Wolf-Hirschhorn syndrome. Pediatrics 93: 826-827.
-
(1994)
Pediatrics
, vol.93
, pp. 826-827
-
-
Fagan, K.1
Bagric, H.2
Colley, P.3
Partington, M.4
-
7
-
-
0019800476
-
Neuropathological findings in Wolf-Hirschhorn (4p-) syndrome
-
Gottfried M, Lavine L, Roessmann U. 1981. Neuropathological findings in Wolf-Hirschhorn (4p-) syndrome. Acta Neuropathol 55: 163-165.
-
(1981)
Acta Neuropathol
, vol.55
, pp. 163-165
-
-
Gottfried, M.1
Lavine, L.2
Roessmann, U.3
-
8
-
-
10744226995
-
Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosome 4q and 18q
-
Gunn SR, Mohammed M, Reveles XT, et al. 2003. Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosome 4q and 18q. Am J Med Genet 120A: 127-135.
-
(2003)
Am J Med Genet
, vol.120 A
, pp. 127-135
-
-
Gunn, S.R.1
Mohammed, M.2
Reveles, X.T.3
-
10
-
-
0013834960
-
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion
-
Hirschhorn K, Cooper HL, Firschein IL. 1965. Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik 1: 479-482.
-
(1965)
Humangenetik
, vol.1
, pp. 479-482
-
-
Hirschhorn, K.1
Cooper, H.L.2
Firschein, I.L.3
-
11
-
-
0036580748
-
Partial deletion of 4p and 4q in a fetus with ring chromosome 4: Phenotype and molecular mapping of the breakpoints
-
Kocks A, Endele S, Heller R, et al. 2002. Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints. J Med Genet 39: e23.
-
(2002)
J Med Genet
, vol.39
-
-
Kocks, A.1
Endele, S.2
Heller, R.3
-
12
-
-
0018855606
-
The Wolf-Hirschhorn syndrome I. Genetics
-
Lurie IW, Lazjuk GI, Ussova YI, Presman EB, Gurevich DB. 1980. The Wolf-Hirschhorn syndrome I. Genetics. Clin Genet 17: 375-384.
-
(1980)
Clin Genet
, vol.17
, pp. 375-384
-
-
Lurie, I.W.1
Lazjuk, G.I.2
Ussova, Y.I.3
Presman, E.B.4
Gurevich, D.B.5
-
13
-
-
0017799698
-
Trisomy 4p and deletion 4p- In a family having a translocation, t(4p-;12p+)
-
Mortimer JG, Chewing W, Miethke P, Smith GF. 1978. Trisomy 4p and deletion 4p- in a family having a translocation, t(4p-;12p+). Hum Hered 28: 132-141.
-
(1978)
Hum Hered
, vol.28
, pp. 132-141
-
-
Mortimer, J.G.1
Chewing, W.2
Miethke, P.3
Smith, G.F.4
-
14
-
-
0017112061
-
Cytogenetic studies of a case of 4p- Syndrome and her mother with balanced translocation 46, XX,t(2;4)(q37;p14)
-
Ohdo S, Ikeda T, Ogata H. 1976. Cytogenetic studies of a case of 4p- syndrome and her mother with balanced translocation 46, XX,t(2;4)(q37;p14). Acta Med Univ Kagoshima 18: 1-8.
-
(1976)
Acta Med Univ Kagoshima
, vol.18
, pp. 1-8
-
-
Ohdo, S.1
Ikeda, T.2
Ogata, H.3
-
16
-
-
0025881892
-
Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome
-
Quarrell OWJ, Snell RG, Curtis MA, Roberts SH, Harper PS, Shaw DJ. 1991. Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. J Med Genet 28: 256-259.
-
(1991)
J Med Genet
, vol.28
, pp. 256-259
-
-
Owj, Q.1
Snell, R.G.2
Curtis, M.A.3
Roberts, S.H.4
Harper, P.S.5
Shaw, D.J.6
-
17
-
-
0033358665
-
Clustered 11q23 and 22q11 Breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families
-
Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. 1999. Clustered 11q23 and 22q11 Breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet 65: 1595-1607.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1595-1607
-
-
Shaikh, T.H.1
Budarf, M.L.2
Celle, L.3
Zackai, E.H.4
Emanuel, B.S.5
-
18
-
-
9744273971
-
4p terminal deletion and lip subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype
-
Stevenson DA, Carey JC, Cowley BC, Bayrak-Toydemir P, Mao R, Brothman AR. 2004. 4p terminal deletion and lip subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. J Pediatr 145: 840-842.
-
(2004)
J Pediatr
, vol.145
, pp. 840-842
-
-
Stevenson, D.A.1
Carey, J.C.2
Cowley, B.C.3
Bayrak-Toydemir, P.4
Mao, R.5
Brothman, A.R.6
-
19
-
-
0027076730
-
The Wolf-Hirschhorn syndrome in fetuses
-
Tachdjian G, Fondacci C, Tapia S, Huten Y, Blot P, Nessmann C. 1992. The Wolf-Hirschhorn syndrome in fetuses. Clin Genet 42: 281-287.
-
(1992)
Clin Genet
, vol.42
, pp. 281-287
-
-
Tachdjian, G.1
Fondacci, C.2
Tapia, S.3
Huten, Y.4
Blot, P.5
Nessmann, C.6
-
20
-
-
4444242261
-
Mild Wolf-Hirschhorn syndrome: Micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
-
Van Buggenhout G, Melotte C, Dutta B, et al. 2004. Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet 41: 691-698.
-
(2004)
J Med Genet
, vol.41
, pp. 691-698
-
-
Van Buggenhout, G.1
Melotte, C.2
Dutta, B.3
-
21
-
-
0025806733
-
Prenatal diagnosis of cystic hydroma and chorioangioma in the Wolf-Hirschhorn syndrome
-
Verloes A, Schaaps JP, Herens C, Soyeur D, Hustin J, Dodinval P. 1991. Prenatal diagnosis of cystic hydroma and chorioangioma in the Wolf-Hirschhorn syndrome. Prenat Diagn 11: 129-132.
-
(1991)
Prenat Diagn
, vol.11
, pp. 129-132
-
-
Verloes, A.1
Schaaps, J.P.2
Herens, C.3
Soyeur, D.4
Hustin, J.5
Dodinval, P.6
-
22
-
-
0033949022
-
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de novo deletion
-
Wieczorek D, Krause M, Majewski F, et al. 2000a. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Eur J Hum Genet 8: 519-526.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 519-526
-
-
Wieczorek, D.1
Krause, M.2
Majewski, F.3
-
23
-
-
0033788895
-
Unexpected high frequency of de novo unbalanced translocation in patients with Wolf-Hirschhorn syndrome (WHS)
-
Wieczorek D, Krause M, Majewski F, et al. 2000b. Unexpected high frequency of de novo unbalanced translocation in patients with Wolf-Hirschhorn syndrome (WHS). J Med Genet 37: 798-804.
-
(2000)
J Med Genet
, vol.37
, pp. 798-804
-
-
Wieczorek, D.1
Krause, M.2
Majewski, F.3
-
24
-
-
0019801687
-
Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome (del 4p)
-
Wilson MG, Towner JW, Coffing S, Ebbin AJ, Siris E, Brager P. 1981. Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome (del 4p). Hum Genet 39: 297-307.
-
(1981)
Hum Genet
, vol.39
, pp. 297-307
-
-
Wilson, M.G.1
Towner, J.W.2
Coffing, S.3
Ebbin, A.J.4
Siris, E.5
Brager, P.6
-
25
-
-
0013831101
-
Defizienz an den kurzen Armen eines Chromosomes Nr 4
-
Wolf U, Reinwein H, Forsch R, Schröter R, Baitsch H. 1965. Defizienz an den kurzen Armen eines Chromosomes Nr 4. Humangenetik 1: 397-413.
-
(1965)
Humangenetik
, vol.1
, pp. 397-413
-
-
Wolf, U.1
Reinwein, H.2
Forsch, R.3
Schröter, R.4
Baitsch, H.5
-
26
-
-
8044224043
-
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region
-
Wright TJ, Ricke DO, Denison K, et al. 1997. A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet 6: 317-324.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 317-324
-
-
Wright, T.J.1
Ricke, D.O.2
Denison, K.3
-
27
-
-
0041823236
-
Upper airway malformation associated with partial trisomy 11q
-
Zhao H, Rope AF, Saal HM, Blough-Pfan RI, Hopkin RJ. 2003. Upper airway malformation associated with partial trisomy 11q. Am J Med Genet 120A: 331-337.
-
(2003)
Am J Med Genet
, vol.120 A
, pp. 331-337
-
-
Zhao, H.1
Rope, A.F.2
Saal, H.M.3
Blough-Pfan, R.I.4
Hopkin, R.J.5
-
28
-
-
0034684044
-
Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
-
Zollino M, Di Stefano C, Zampino G, et al. 2000. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet 94: 254-261.
-
(2000)
Am J Med Genet
, vol.94
, pp. 254-261
-
-
Zollino, M.1
Di Stefano, C.2
Zampino, G.3
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