-
1
-
-
0032477859
-
Wolff-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions
-
T.J. Wright, M. Clemens, O. Quarrell, M.R. Altherr, Wolff-Hirschhorn and Pitt-Rogers-Danks syndromes caused by overlapping 4p deletions, Am. J. Med. Genet. 75 (1998) 345-350.
-
(1998)
Am. J. Med. Genet.
, vol.75
, pp. 345-350
-
-
Wright, T.J.1
Clemens, M.2
Quarrell, O.3
Altherr, M.R.4
-
2
-
-
0028998214
-
Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation
-
D.M. White, D.-A.M. Pillers, J.A. Reiss, M.G. Brown, R.E. Magenis, Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation, Am. J. Med. Genet. 57 (1995) 588-597.
-
(1995)
Am. J. Med. Genet.
, vol.57
, pp. 588-597
-
-
White, D.M.1
Pillers, D.-A.M.2
Reiss, J.A.3
Brown, M.G.4
Magenis, R.E.5
-
3
-
-
0013831101
-
Defizienz an den kurzen armen eines chromosomes nr. 4
-
U. Wolff, H. Reinwein, R. Porsch, R. Schroter, H. Baitsch, Defizienz an den kurzen armen eines chromosomes nr. 4, Humangenetik 1 (1965) 397-413.
-
(1965)
Humangenetik
, vol.1
, pp. 397-413
-
-
Wolff, U.1
Reinwein, H.2
Porsch, R.3
Schroter, R.4
Baitsch, H.5
-
4
-
-
0013834960
-
Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion
-
K. Hirschhorn, H.L. Cooper, I.L. Firschein, Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion, Humangenetik 1 (1965) 479-482.
-
(1965)
Humangenetik
, vol.1
, pp. 479-482
-
-
Hirschhorn, K.1
Cooper, H.L.2
Firschein, I.L.3
-
6
-
-
0021750136
-
Mental retardation, unusual face and intrauterine growth retardation: A new recessive syndrome?
-
D.B. Pitt, J.G. Rogers, D.M. Danks, Mental retardation, unusual face and intrauterine growth retardation: a new recessive syndrome?, Am. J. Med. Genet. 19 (1984) 307-313.
-
(1984)
Am. J. Med. Genet.
, vol.19
, pp. 307-313
-
-
Pitt, D.B.1
Rogers, J.G.2
Danks, D.M.3
-
7
-
-
0029950493
-
Pitt-Rogers-Danks syndrome: The result of a 4p microdeletion
-
M. Clemens, J.T. Martsolf, J.G. Rogers, P. Mowery-Rushton, U. Surti, E. McPherson, Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion, Am. J. Med. Genet. 66 (1996) 95-100.
-
(1996)
Am. J. Med. Genet.
, vol.66
, pp. 95-100
-
-
Clemens, M.1
Martsolf, J.T.2
Rogers, J.G.3
Mowery-Rushton, P.4
Surti, U.5
McPherson, E.6
-
8
-
-
0029857869
-
Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype
-
M.C. Lindeman-Kusse, A. van Haeringen, J. Hoorweg-Nihman, H.G. Brunner, Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype, Am. J. Med. Genet. 66 (1996) 104-112.
-
(1996)
Am. J. Med. Genet.
, vol.66
, pp. 104-112
-
-
Lindeman-Kusse, M.C.1
Van Haeringen, A.2
Hoorweg-Nihman, J.3
Brunner, H.G.4
-
9
-
-
0029950494
-
Editorial comment. Pitt-Rogers-Danks syndrome and Wolff-Hirschhorn syndrome
-
D. Donnai, Editorial comment. Pitt-Rogers-Danks syndrome and Wolff-Hirschhorn syndrome, Am. J. Med. Genet. 66 (1996) 101-103.
-
(1996)
Am. J. Med. Genet.
, vol.66
, pp. 101-103
-
-
Donnai, D.1
-
10
-
-
0029914013
-
From Pitt-Rogers-Danks syndrome to Wolff-Hirschhorn syndrome. And back?
-
M. Zollino, R. Bova, G. Neri, From Pitt-Rogers-Danks syndrome to Wolff-Hirschhorn syndrome. And back?, Am. J. Med. Genet. 66 (1996) 113-115.
-
(1996)
Am. J. Med. Genet.
, vol.66
, pp. 113-115
-
-
Zollino, M.1
Bova, R.2
Neri, G.3
-
11
-
-
8044224043
-
A transcript map of the newly defined 165 kb Wolff-Hirschhorn syndrome critical region
-
T.J. Wright, D.O. Ricke, K. Denison, S. Abmayr, P.D. Cotter, K. Hirschhorn, M. Keinanen, D. McDonald-McGinn, M. Somer, N. Spinner, T. Yang-Feng, E. Zackai, M.R. Altherr, A transcript map of the newly defined 165 kb Wolff-Hirschhorn syndrome critical region, Hum. Mol. Genet. 6 (1997) 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
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
-
12
-
-
0028929133
-
Syndrome of proximal interstitial deletion 4p15: Report of three cases and review of the literature
-
D. Chitayat, R.H.A. Ruvalcaba, R. Babul, I.E. Teshima, J.C. Posnick, M.J.J. Vekemans, H. Scarpelli, H. Thuline, Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature, Am. J. Med. Genet. 55 (1995) 147-154.
-
(1995)
Am. J. Med. Genet.
, vol.55
, pp. 147-154
-
-
Chitayat, D.1
Ruvalcaba, R.H.A.2
Babul, R.3
Teshima, I.E.4
Posnick, J.C.5
Vekemans, M.J.J.6
Scarpelli, H.7
Thuline, H.8
-
13
-
-
0029642038
-
Syndrome of proximal interstitial deletion 4p15
-
J.P. Fryns, Syndrome of proximal interstitial deletion 4p15, Am. J. Med. Genet. 58 (1995) 295-296.
-
(1995)
Am. J. Med. Genet.
, vol.58
, pp. 295-296
-
-
Fryns, J.P.1
-
14
-
-
0032724678
-
Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype
-
A.M. Innes, A.E. Chudley, N.L. Carson, A.J. Dawson, Interstitial 4p deletion in a child with an Angelman syndrome-like phenotype, Clin. Genet. 56 (1999) 238-241.
-
(1999)
Clin. Genet.
, vol.56
, pp. 238-241
-
-
Innes, A.M.1
Chudley, A.E.2
Carson, N.L.3
Dawson, A.J.4
-
15
-
-
0017623607
-
Proximal 4p- deletion: Phenotype differs from classical 4p- syndrome
-
U. Francke, D.E. Arias, W.L. Nyhan, Proximal 4p- deletion: phenotype differs from classical 4p- syndrome, J. Pediatr. 90 (1977) 250-252.
-
(1977)
J. Pediatr.
, vol.90
, pp. 250-252
-
-
Francke, U.1
Arias, D.E.2
Nyhan, W.L.3
-
16
-
-
0017647659
-
A 13-year-old girl with Wolff's syndrome and karyotype 46,XX,del(4)(pter→p15::p12→qter),9qh+; increased risk of structural chromosome abnormalities in the progeny of mothers with 9qh+
-
J. Nielsen, O. Fischer, K. Rasmussen, I. Sillesen, A. Bernsen, P. Saldana-Garcia, A 13-year-old girl with Wolff's syndrome and karyotype 46,XX,del(4)(pter→p15::p12→qter),9qh+; increased risk of structural chromosome abnormalities in the progeny of mothers with 9qh+, J. Ment. Defic. Res. 21 (1977) 119-126.
-
(1977)
J. Ment. Defic. Res.
, vol.21
, pp. 119-126
-
-
Nielsen, J.1
Fischer, O.2
Rasmussen, K.3
Sillesen, I.4
Bernsen, A.5
Saldana-Garcia, P.6
-
17
-
-
0021136447
-
Interstitial deletion of the short arm of chromosome 4
-
M. Ray, J. Evan, C. Rockman-Greenberg, D. Wickstrom, Interstitial deletion of the short arm of chromosome 4, J. Med. Genet. 21 (1984) 223-225.
-
(1984)
J. Med. Genet.
, vol.21
, pp. 223-225
-
-
Ray, M.1
Evan, J.2
Rockman-Greenberg, C.3
Wickstrom, D.4
-
18
-
-
0022259318
-
A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolff-Hirschhorn syndrome
-
D.R. Romain, L.M. Columbano-Green, R.G. Parfitt, C.J. Chapman, R.H. Smythe, O.B. Gebbie, A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolff-Hirschhorn syndrome, Clin. Genet. 28 (1985) 166-172.
-
(1985)
Clin. Genet.
, vol.28
, pp. 166-172
-
-
Romain, D.R.1
Columbano-Green, L.M.2
Parfitt, R.G.3
Chapman, C.J.4
Smythe, R.H.5
Gebbie, O.B.6
-
19
-
-
0022460760
-
De-novo del(4)(p15.32) with incomplete expression of the Wolff-Hirschhorn syndrome
-
L.P. Castro-Felix, M.L. Ramirez, S. Valera-Huezo, E. Matute, F. Rivas, H. Rivera, M. Moller, J.M. Cantu, De-novo del(4)(p15.32) with incomplete expression of the Wolff-Hirschhorn syndrome, Clin. Genet. 29 (1986) 439-444.
-
(1986)
Clin. Genet.
, vol.29
, pp. 439-444
-
-
Castro-Felix, L.P.1
Ramirez, M.L.2
Valera-Huezo, S.3
Matute, E.4
Rivas, F.5
Rivera, H.6
Moller, M.7
Cantu, J.M.8
-
20
-
-
0024512175
-
Interstitial deletion of the short arm of chromosome 4 - A phenotype distinct from the Wolff-Hirschhorn syndrome
-
J.P. Fryns, Yang-Aisheng, A. Kleczkowska, F. Lemmens, W. Vandecasseye, H. van den Berghe, Interstitial deletion of the short arm of chromosome 4-a phenotype distinct from the Wolff-Hirschhorn syndrome, Ann. Genet. 32 (1989) 59-61.
-
(1989)
Ann. Genet.
, vol.32
, pp. 59-61
-
-
Fryns, J.P.1
Yang-Aisheng2
Kleczkowska, A.3
Lemmens, F.4
Vandecasseye, W.5
Van Den Berghe, H.6
-
21
-
-
0025009019
-
Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism
-
T. Ishikawa, S. Sumi, S. Fujimoto, Y. Shima, Y. Wada, Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism, Clin. Genet. 38 (1990) 314-317.
-
(1990)
Clin. Genet.
, vol.38
, pp. 314-317
-
-
Ishikawa, T.1
Sumi, S.2
Fujimoto, S.3
Shima, Y.4
Wada, Y.5
-
22
-
-
0025078464
-
Interstitial deletion of the band 4p15.3 defined by sequential replication banding
-
J. Davies, L. Voullaire, A. Bankier, Interstitial deletion of the band 4p15.3 defined by sequential replication banding, Ann. Genet. 33 (1990) 92-95.
-
(1990)
Ann. Genet.
, vol.33
, pp. 92-95
-
-
Davies, J.1
Voullaire, L.2
Bankier, A.3
-
23
-
-
0027398236
-
Interstitial deletion of distal chromosome 4p in a patient without classical Wolff-Hirschhorn syndrome
-
L.L. Estabrooks, K.W. Rao, B. Korf, Interstitial deletion of distal chromosome 4p in a patient without classical Wolff-Hirschhorn syndrome, Am. J. Med. Genet. 45 (1993) 97-100.
-
(1993)
Am. J. Med. Genet.
, vol.45
, pp. 97-100
-
-
Estabrooks, L.L.1
Rao, K.W.2
Korf, B.3
-
24
-
-
0030943320
-
Mild phenotype in interstitial 4p deletion: Another patient and review of the literature
-
G. Van de Graaf, J.M.J. Sijstermans, J.J.M. Engelen, C.T.R.M. Schrander-Stumpel, Mild phenotype in interstitial 4p deletion: another patient and review of the literature, Genet. Couns. 8 (1997) 13-18.
-
(1997)
Genet. Couns.
, vol.8
, pp. 13-18
-
-
Van De Graaf, G.1
Sijstermans, J.M.J.2
Engelen, J.J.M.3
Schrander-Stumpel, C.T.R.M.4
-
25
-
-
0030801475
-
Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: Clinical description of a new patient
-
A. Caliebe, S. Waltz, J. Jendemy, Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient, Clin. Genet. 52 (1997) 116-119.
-
(1997)
Clin. Genet.
, vol.52
, pp. 116-119
-
-
Caliebe, A.1
Waltz, S.2
Jendemy, J.3
-
26
-
-
0035746683
-
Prenatal diagnosis of the 22ql 1.2 deletion syndrome
-
D.A. Driscoll, Prenatal diagnosis of the 22ql 1.2 deletion syndrome, Genet. Med. 3 (2001) 14-18.
-
(2001)
Genet. Med.
, vol.3
, pp. 14-18
-
-
Driscoll, D.A.1
-
27
-
-
16944364802
-
Spectrum of findings associated with interstitial chromosome 22q11 deletions: A European collaborative study
-
A.K. Ryan, J.A. Goodship, D.I. Wilson, N. Philip, A. Levy, H. Seidel, S. Schuffenhauer, H. Oechsler, B. Belohradsky, M. Prieur, A. Aurias, F.L. Raymond, J. Clayton-Smith, E. Hatchwell, C. McKeown, F.A. Beemer, B. Dallapiccola, G. Novelli, J.A. Hurst, J. Ignatius, A.J. Green, R.M. Winter, L. Brueton, K. Brondum-Nielsen, F. Stewart, T. Van Essen, M. Patton, J. Paterson, P.J. Scambler, Spectrum of findings associated with interstitial chromosome 22q11 deletions: a European collaborative study, J. Med. Genet. 34 (1997) 798-804.
-
(1997)
J. Med. Genet.
, vol.34
, pp. 798-804
-
-
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
Philip, N.4
Levy, A.5
Seidel, H.6
Schuffenhauer, S.7
Oechsler, H.8
Belohradsky, B.9
Prieur, M.10
Aurias, A.11
Raymond, F.L.12
Clayton-Smith, J.13
Hatchwell, E.14
McKeown, C.15
Beemer, F.A.16
Dallapiccola, B.17
Novelli, G.18
Hurst, J.A.19
Ignatius, J.20
Green, A.J.21
Winter, R.M.22
Brueton, L.23
Brondum-Nielsen, K.24
Stewart, F.25
Van Essen, T.26
Patton, M.27
Paterson, J.28
Scambler, P.J.29
more..
-
28
-
-
0033033492
-
The Philadelphia story: The 22q11.2 deletion: Report on 250 patients
-
D.M. McDonald-McGinn, R. Kirschner, E. Goldmuntz, K. Sullivan, P. Eicher, M. Gerdes, E. Moss, C. Solot, P. Wang, I. Jackobs, S. Handler, C. Knightly, K. Heher, M. Wilson, J.E. Ming, K. Grace, D. Driscoll, P. Pasquariello, P. Randall, D. LaRossa, B.S. Emanuel, E.H. Zackai, The Philadelphia story: the 22q11.2 deletion: report on 250 patients, Genet. Couns. 10 (1999) 11-24.
-
(1999)
Genet. Couns.
, vol.10
, pp. 11-24
-
-
McDonald-McGinn, D.M.1
Kirschner, R.2
Goldmuntz, E.3
Sullivan, K.4
Eicher, P.5
Gerdes, M.6
Moss, E.7
Solot, C.8
Wang, P.9
Jackobs, I.10
Handler, S.11
Knightly, C.12
Heher, K.13
Wilson, M.14
Ming, J.E.15
Grace, K.16
Driscoll, D.17
Pasquariello, P.18
Randall, P.19
LaRossa, D.20
Emanuel, B.S.21
Zackai, E.H.22
more..
-
29
-
-
0030453087
-
Say, Familial deletion of chromosome 18 (p11.2)
-
G.V.N. Velagaleti, S. Harris, N.J. Carpenter, J.B. Coldwell, Say, Familial deletion of chromosome 18 (p11.2), Ann. Genet. 39 (1996) 201-204.
-
(1996)
Ann. Genet.
, vol.39
, pp. 201-204
-
-
Velagaleti, G.V.N.1
Harris, S.2
Carpenter, N.J.3
Coldwell, J.B.4
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