-
1
-
-
0032477709
-
Wolf-Hirschhorn syndrome and a split-hand malformation
-
Bamshad M, O'Quinn JR, Carey JC. 1998. Wolf-Hirschhorn syndrome and a split-hand malformation. Am J Med Genet 75:351-354.
-
(1998)
Am J Med Genet
, vol.75
, pp. 351-354
-
-
Bamshad, M.1
O'Quinn, J.R.2
Carey, J.C.3
-
2
-
-
55949136688
-
Wolf-Hirschhorn syndrome and the 4p-related syndromes
-
Battaglia A, Carey JC. 2008. Wolf-Hirschhorn syndrome and the 4p-related syndromes. Am J Med Genet Part C 148C:C241-C243.
-
(2008)
Am J Med Genet
, vol.148 C
, Issue.PART C
-
-
Battaglia, A.1
Carey, J.C.2
-
3
-
-
0033055570
-
Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases
-
Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C. 1999. Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases. Pediatrics 103:830-836.
-
(1999)
Pediatrics
, vol.103
, pp. 830-836
-
-
Battaglia, A.1
Carey, J.C.2
Cederholm, P.3
Viskochil, D.H.4
Brothman, A.R.5
Galasso, C.6
-
4
-
-
55949113926
-
-
Battaglia A, Filippi T, Carey JC. 2008. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision. Am J Med Genet Part C Semin Med Genet 148C:246-251.
-
Battaglia A, Filippi T, Carey JC. 2008. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision. Am J Med Genet Part C Semin Med Genet 148C:246-251.
-
-
-
-
5
-
-
4244216018
-
Interstitial deletion of 2q24.2-q31.1 causes characteristic distal limb malformations
-
Boles RG, Prober BR, McGrath J, Yang-Feng TL. 1993. Interstitial deletion of 2q24.2-q31.1 causes characteristic distal limb malformations. Am J Hum Genet Suppl 53:406.
-
(1993)
Am J Hum Genet
, Issue.SUPPL. 53
, pp. 406
-
-
Boles, R.G.1
Prober, B.R.2
McGrath, J.3
Yang-Feng, T.L.4
-
6
-
-
0000915823
-
Interstitial deletion of 6q associated with ectrodactyly
-
Braverman N, Kline A, Pyeritz R. 1993. Interstitial deletion of 6q associated with ectrodactyly. Am J Hum Genet Suppl 53:410.
-
(1993)
Am J Hum Genet
, Issue.SUPPL. 53
, pp. 410
-
-
Braverman, N.1
Kline, A.2
Pyeritz, R.3
-
7
-
-
45249096508
-
Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-pter) and partial trisomy 10q (10q25.1-qter)
-
Chen CP, Chen YJ, Chern SR, Tsai FJ, Chang TY, Lee CC, Town DD, Lee MS, Wang W. 2008. Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1-pter) and partial trisomy 10q (10q25.1-qter). Prenat Diagn 5:450-453.
-
(2008)
Prenat Diagn
, vol.5
, pp. 450-453
-
-
Chen, C.P.1
Chen, Y.J.2
Chern, S.R.3
Tsai, F.J.4
Chang, T.Y.5
Lee, C.C.6
Town, D.D.7
Lee, M.S.8
Wang, W.9
-
8
-
-
0029928791
-
Skeletal overgrowth and deafness in mice lacking fibroblast growth facto receptor 3
-
Colvin JS, Bohne BA, Harding GW, McEwen DG, Ornitz DM. 1996. Skeletal overgrowth and deafness in mice lacking fibroblast growth facto receptor 3. Nat Genet 12:390-397.
-
(1996)
Nat Genet
, vol.12
, pp. 390-397
-
-
Colvin, J.S.1
Bohne, B.A.2
Harding, G.W.3
McEwen, D.G.4
Ornitz, D.M.5
-
9
-
-
0000609255
-
Msh-loke genes: A family of homeobox genes with wide ranging expression during vertebrate development
-
Davidson DR, Hill RE. 1991. Msh-loke genes: A family of homeobox genes with wide ranging expression during vertebrate development. Sem Dev Biol 2:405-412.
-
(1991)
Sem Dev Biol
, vol.2
, pp. 405-412
-
-
Davidson, D.R.1
Hill, R.E.2
-
10
-
-
0027475080
-
Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26q26.1
-
Faiyaz-ul-Haque M, Uhlhaas S, Knapp M, Schuler H, Friedl W, Ahmad M, Propping P. 1993. Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26q26.1. Hum Genet 91:17-19.
-
(1993)
Hum Genet
, vol.91
, pp. 17-19
-
-
Faiyaz-ul-Haque, M.1
Uhlhaas, S.2
Knapp, M.3
Schuler, H.4
Friedl, W.5
Ahmad, M.6
Propping, P.7
-
12
-
-
0032477776
-
Association between homeobox-containing gene MSX1 and the occurrence of limb deficiency
-
Hwang SJ, Beaty TH, McIntosh I, Hefferon T, Panny SR. 1998. Association between homeobox-containing gene MSX1 and the occurrence of limb deficiency. Am J Med Genet 75:419-423.
-
(1998)
Am J Med Genet
, vol.75
, pp. 419-423
-
-
Hwang, S.J.1
Beaty, T.H.2
McIntosh, I.3
Hefferon, T.4
Panny, S.R.5
-
13
-
-
0027431005
-
A mutation in the homeodomain of the human MSX2 gene in family affected with autosomal dominant craniosynostosis
-
Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, Maxson R. 1993. A mutation in the homeodomain of the human MSX2 gene in family affected with autosomal dominant craniosynostosis. Cell 75:443-450.
-
(1993)
Cell
, vol.75
, pp. 443-450
-
-
Jabs, E.W.1
Muller, U.2
Li, X.3
Ma, L.4
Luo, W.5
Haworth, I.S.6
Klisak, I.7
Sparkes, R.8
Warman, M.L.9
Mulliken, J.B.10
Maxson, R.11
-
14
-
-
0029100010
-
Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression
-
Johnson KR, Lane PW, Ward-Bailey P, Davisson MT. 1995. Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression. Genomics 29:457-464.
-
(1995)
Genomics
, vol.29
, pp. 457-464
-
-
Johnson, K.R.1
Lane, P.W.2
Ward-Bailey, P.3
Davisson, M.T.4
-
15
-
-
0028947436
-
Further study of genetic interactions: Loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4)(q33)
-
Lurie IW. 1995. Further study of genetic interactions: Loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4)(q33). Am J Med Genet 56:308-311.
-
(1995)
Am J Med Genet
, vol.56
, pp. 308-311
-
-
Lurie, I.W.1
-
16
-
-
0028879329
-
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25
-
Nunes ME, Schutt G, Kapur RP, Luthardt F, Kukolich M, Byers P, Evans JP. 1995. A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. Hum Mol Genet 11:2165-2170.
-
(1995)
Hum Mol Genet
, vol.11
, pp. 2165-2170
-
-
Nunes, M.E.1
Schutt, G.2
Kapur, R.P.3
Luthardt, F.4
Kukolich, M.5
Byers, P.6
Evans, J.P.7
-
17
-
-
37849044883
-
Multiple hemangiomas in a patient with a t(3q;4p) translocation
-
Pardo S, Blitman N, Han B, Cohen N, Edelmann L, Hirschhorn K. 2008. Multiple hemangiomas in a patient with a t(3q;4p) translocation. Am J Med Genet Part A 146A:219-224.
-
(2008)
Am J Med Genet
, vol.146 A
, Issue.PART A
, pp. 219-224
-
-
Pardo, S.1
Blitman, N.2
Han, B.3
Cohen, N.4
Edelmann, L.5
Hirschhorn, K.6
-
18
-
-
0034074244
-
Prenatal diagnosis of partial trisomy 4q26-qter and monsomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation
-
Petek E, Wagner K, Steiner H, Schaffer H, Kroisel PM. 2000. Prenatal diagnosis of partial trisomy 4q26-qter and monsomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation. Prenat Diagn 20:349-352.
-
(2000)
Prenat Diagn
, vol.20
, pp. 349-352
-
-
Petek, E.1
Wagner, K.2
Steiner, H.3
Schaffer, H.4
Kroisel, P.M.5
-
19
-
-
35348992130
-
Homeobox gene Sax2 deficiency causes an imbalance in energy homeostasis
-
Simon R, Lufkin T, Bergemann AD. 2007. Homeobox gene Sax2 deficiency causes an imbalance in energy homeostasis. Dev Dyn 236:2792-2799.
-
(2007)
Dev Dyn
, vol.236
, pp. 2792-2799
-
-
Simon, R.1
Lufkin, T.2
Bergemann, A.D.3
-
20
-
-
9744273971
-
4p terminal deletion and 11p 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 11p 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
-
21
-
-
0025806733
-
Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome
-
Verloes A, Schaaps JP, Herens C, Soyeur D, Hustin J, Dodinval P. 1991. Prenatal diagnosis of cystic hygroma 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
-
-
0017285716
-
Split-hand and splitfoot deformity inherited as an autosomal recessive trait
-
Verma IC, Joseph R, Bhargava S, Mehta S. 1973. Split-hand and splitfoot deformity inherited as an autosomal recessive trait. Clin Genet 1:8-14.
-
(1973)
Clin Genet
, vol.1
, pp. 8-14
-
-
Verma, I.C.1
Joseph, R.2
Bhargava, S.3
Mehta, S.4
-
23
-
-
0027182938
-
Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation
-
Viljoen DL, Smart R. 1993. Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation. Clin Dysmorphol 3:274-277.
-
(1993)
Clin Dysmorphol
, vol.3
, pp. 274-277
-
-
Viljoen, D.L.1
Smart, R.2
-
24
-
-
8044224043
-
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region
-
Wright TJ, Ricke DO, Denison K, Abmayr S, Coetter PD, Hirschhorn K, Keinanen M, McDonald-McGinn D, Somer M, Spinner N, Tang-Feng T, Zackai E, Alherr MR. 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
Abmayr, S.4
Coetter, P.D.5
Hirschhorn, K.6
Keinanen, M.7
McDonald-McGinn, D.8
Somer, M.9
Spinner, N.10
Tang-Feng, T.11
Zackai, E.12
Alherr, M.R.13
-
25
-
-
0037373130
-
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region, WHSCR-2
-
Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Butte C, Memo L, Capovilla G, Neri G. 2003. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region, WHSCR-2. Am J Hum Genet 72:590-597.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 590-597
-
-
Zollino, M.1
Lecce, R.2
Fischetto, R.3
Murdolo, M.4
Faravelli, F.5
Selicorni, A.6
Butte, C.7
Memo, L.8
Capovilla, G.9
Neri, G.10
-
26
-
-
55949114508
-
On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review
-
Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. 2008. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet Part C 148C:257-269.
-
(2008)
Am J Med Genet
, vol.148 C
, Issue.PART C
, pp. 257-269
-
-
Zollino, M.1
Murdolo, M.2
Marangi, G.3
Pecile, V.4
Galasso, C.5
Mazzanti, L.6
Neri, G.7
|