-
1
-
-
79952743070
-
Deletion 4p: Wolf-Hirschhorn syndrome
-
Cassidy SB, Allanson JE (eds) Hoboken, NJ Wiley-Liss and Sons Inc.
-
Battaglia A: Deletion 4p: Wolf-Hirschhorn syndrome; in Cassidy SB, Allanson JE (eds): Management of Genetic Syndromes. Hoboken, NJ: Wiley-Liss and Sons Inc., 2010, pp 249-261
-
(2010)
Management of Genetic Syndromes
, pp. 249-261
-
-
Battaglia, A.1
-
2
-
-
0013093868
-
Update on the clinical features and natural history of Wolf Hirschhorn syndrome (WHS): Experience with 48 cases
-
Battaglia A, Carey JC: Update on the clinical features and natural history of Wolf Hirschhorn syndrome (WHS): experience with 48 cases. Am J Hum Genet 2000; 67: 127
-
(2000)
Am J Hum Genet
, vol.67
, pp. 127
-
-
Battaglia, A.1
Carey, J.C.2
-
3
-
-
22244457681
-
Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome
-
DOI 10.1016/j.braindev.2004.02.017, PII S0387760405000410, Chromosomal Aberration and Epileptic Syndrome, Part 2
-
Battaglia A, Carey JC: Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome. Brain Dev 2005; 27: 362-364 (Pubitemid 40991758)
-
(2005)
Brain and Development
, vol.27
, Issue.5
, pp. 362-364
-
-
Battaglia, A.1
Carey, J.C.2
-
4
-
-
0033055570
-
Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases
-
DOI 10.1542/peds.103.4.830
-
Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C: Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. Pediatrics 1999; 103: 830-836 (Pubitemid 29274487)
-
(1999)
Pediatrics
, vol.103
, Issue.I4
, pp. 830-836
-
-
Battaglia, A.1
Carey, J.C.2
Cederholm, P.3
Viskochil, D.H.4
Brothman, A.R.5
Galasso, C.6
-
5
-
-
0343131270
-
Storia naturale della sindrome di Wolf-Hirschhorn: esperienza con 15 casi
-
Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C: Storia naturale della sindrome di Wolf-Hirschhorn: esperienza con 15 casi. Pediatrics 1999; 11: 236-242
-
(1999)
Pediatrics
, vol.11
, pp. 236-242
-
-
Battaglia, A.1
Carey, J.C.2
Cederholm, P.3
Viskochil, D.H.4
Brothman, A.R.5
Galasso, C.6
-
7
-
-
0033954143
-
Wolf-Hirschhorn syndrome (WHS): A history in pictures
-
Battaglia A, Carey JC, Viskochil DH, Cederholm P, Opitz JM: Wolf-Hirschhorn syndrome (WHS): a history in pictures. Clin Dysmorphol 2000; 9: 25-30 (Pubitemid 30051723)
-
(2000)
Clinical Dysmorphology
, vol.9
, Issue.1
, pp. 25-30
-
-
Battaglia, A.1
Carey, J.C.2
Viskochil, D.H.3
Cederholm, P.4
Opitz, J.M.5
-
9
-
-
55949113926
-
Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision
-
Battaglia A, Filippi T, Carey JC: 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 2008; 148C: 246-251
-
(2008)
Am J Med Genet Part C Semin Med Genet
, vol.148 C
, pp. 246-251
-
-
Battaglia, A.1
Filippi, T.2
Carey, J.C.3
-
10
-
-
64849110443
-
Spectrum of epilepsy and EEG patterns in Wolf-Hirschhorn syndrome: Experience with 87 patients
-
Battaglia A, Filippi T, South ST, Carey JC: Spectrum of epilepsy and EEG patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev Med Child Neurol 2009; 51: 373-380
-
(2009)
Dev Med Child Neurol
, vol.51
, pp. 373-380
-
-
Battaglia, A.1
Filippi, T.2
South, S.T.3
Carey, J.C.4
-
11
-
-
55949123047
-
Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: Preliminary report of 12 cases
-
Fisch GS, Battaglia A, Parrini B, Youngblom J, Simensen R: Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: preliminary report of 12 cases. Am J Med Genet. 2008; 148C: 252-256
-
(2008)
Am J Med Genet.
, vol.148 C
, pp. 252-256
-
-
Fisch, G.S.1
Battaglia, A.2
Parrini, B.3
Youngblom, J.4
Simensen, R.5
-
12
-
-
0036071427
-
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
-
DOI 10.1086/341610
-
Giglio S, Calvari V, Gregato G et al: Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 2002; 71: 276-285 (Pubitemid 34800244)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.2
, pp. 276-285
-
-
Giglio, S.1
Calvari, V.2
Gregato, G.3
Gimelli, G.4
Camanini, S.5
Giorda, R.6
Ragusa, A.7
Guerneri, S.8
Selicorni, A.9
Stumm, M.10
Tonnies, H.11
Ventura, M.12
Zollino, M.13
Neri, G.14
Barber, J.15
Wieczorek, D.16
Rocchi, M.17
Zuffardi, O.18
-
13
-
-
39149143638
-
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
-
DOI 10.1136/jmg.2007.052910
-
Maas NM, Van Buggenhout G, Hannes F et al: Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet 2008; 45: 71-80 (Pubitemid 351252869)
-
(2008)
Journal of Medical Genetics
, vol.45
, Issue.2
, pp. 71-80
-
-
Maas, N.M.C.1
Van Buggenhout, G.2
Hannes, F.3
Thienpont, B.4
Sanlaville, D.5
Kok, K.6
Midro, A.7
Andrieux, J.8
Anderlid, B.-M.9
Schoumans, J.10
Hordijk, R.11
Devriendt, K.12
Fryns, J.-P.13
Vermeesch, J.R.14
-
14
-
-
38449104234
-
Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designation
-
South ST, Bleyl SB, Carey JC: Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation. Am J Med Genet A 2007; 143A: 2137-2142
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 2137-2142
-
-
South, S.T.1
Bleyl, S.B.2
Carey, J.C.3
-
15
-
-
37249004207
-
Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
-
DOI 10.1038/sj.ejhg.5201915, PII 5201915
-
South ST, Whitby H, Battaglia A, Carey JC, Brothman AR: Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet 2008; 16: 45-52 (Pubitemid 350269238)
-
(2008)
European Journal of Human Genetics
, vol.16
, Issue.1
, pp. 45-52
-
-
South, S.T.1
Whitby, H.2
Battaglia, A.3
Carey, J.C.4
Brothman, A.R.5
-
16
-
-
0033949022
-
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de novo deletion
-
DOI 10.1038/sj.ejhg.5200498
-
Wieczorek D, Krause M, Majewski F et al: 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 2000; 8: 519-526 (Pubitemid 30447125)
-
(2000)
European Journal of Human Genetics
, vol.8
, Issue.7
, pp. 519-526
-
-
Wieczorek, D.1
Krause, M.2
Majewski, F.3
Albrecht, B.4
Horn, D.5
Riess, O.6
Gillessen-Kaesbach, G.7
-
17
-
-
0033788895
-
Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS)
-
Wieczorek D, Krause M, Majewski F et al: Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS). J Med Genet 2000; 37: 798-804
-
(2000)
J Med Genet
, vol.37
, pp. 798-804
-
-
Wieczorek, D.1
Krause, M.2
Majewski, F.3
-
18
-
-
8044224043
-
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region
-
DOI 10.1093/hmg/6.2.317
-
Wright TJ, Ricke DO, Denison K et al: A transcript map of the newly defined . 165. kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet 1997; 6: 317-324 (Pubitemid 27078089)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.2
, pp. 317-324
-
-
Wright, T.J.1
Ricke, D.O.2
Denison, K.3
Abmayr, S.4
Cotter, P.D.5
Hirschhorn, K.6
Keinanen, M.7
McDonald-McGinn, D.8
Somer, M.9
Spinner, N.10
Yang-Feng, T.11
Zackai, E.12
Altherr, M.R.13
-
19
-
-
0037373130
-
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
-
DOI 10.1086/367925
-
Zollino M, Lecce R, Fischetto R et al: Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 2003; 72: 590-597 (Pubitemid 36255958)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.3
, 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
-
20
-
-
6444232244
-
A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome
-
DOI 10.1038/sj.ejhg.5201203
-
Zollino M, Lecce R, Selicorni A et al: A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome. Eur J Hum Genet 2004; 12: 797-804 (Pubitemid 39406063)
-
(2004)
European Journal of Human Genetics
, vol.12
, Issue.10
, pp. 797-804
-
-
Zollino, M.1
Lecce, R.2
Selicorni, A.3
Murdolo, M.4
Mancuso, I.5
Marangi, G.6
Zampino, G.7
Garavelli, L.8
Ferrarini, A.9
Rocchi, M.10
Opitz, J.M.11
Neri, G.12
-
21
-
-
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 et al: 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 Semin Med Genet 2008; 148C: 257-269.
-
(2008)
Am J Med Genet Part C Semin Med Genet
, vol.148 C
, pp. 257-269
-
-
Zollino, M.1
Murdolo, M.2
Marangi, G.3
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