-
1
-
-
36248966403
-
Mice with a targeted disruption of the Fgfrl1 gene die at birth due to alterations in the diaphragm
-
Baertschi S, Zhuang L, Trueb B. 2007. Mice with a targeted disruption of the Fgfrl1 gene die at birth due to alterations in the diaphragm. FEBS J 274: 6241-6253.
-
(2007)
FEBS J
, vol.274
, pp. 6241-6253
-
-
Baertschi, S.1
Zhuang, L.2
Trueb, B.3
-
2
-
-
33746939321
-
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR
-
Basgul A, Kavak ZN, Akman I, Basgul A, Gokaslan H, Elcioglu N. 2006. Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR. Clin Exp Obstet Gynecol 33: 105-106.
-
(2006)
Clin Exp Obstet Gynecol
, vol.33
, pp. 105-106
-
-
Basgul, A.1
Kavak, Z.N.2
Akman, I.3
Basgul, A.4
Gokaslan, H.5
Elcioglu, N.6
-
3
-
-
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. 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 148C: 246-251.
-
(2008)
Am J Med Genet Part C
, vol.148
, pp. 246-251
-
-
Battaglia, A.1
Filippi, T.2
Carey, J.C.3
-
4
-
-
0027984274
-
Recurrence of diaphragmatic agenesis associated with multiple midline defects: Evidence for an autosomal gene regulating the midline
-
Bird LM, Newbury RO, Ruiz-Velasco R, Jones MC. 1994. Recurrence of diaphragmatic agenesis associated with multiple midline defects: Evidence for an autosomal gene regulating the midline. Am J Med Genet 53: 33-38.
-
(1994)
Am J Med Genet
, vol.53
, pp. 33-38
-
-
Bird, L.M.1
Newbury, R.O.2
Ruiz-Velasco, R.3
Jones, M.C.4
-
5
-
-
33645526020
-
Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia
-
Casaccia G, Mobili L, Braguglia A, Santoro F, Bagolan P. 2006. Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia. Birth Defects Res A Clin Mol Teratol 76: 210-213.
-
(2006)
Birth Defects Res A Clin Mol Teratol
, vol.76
, pp. 210-213
-
-
Casaccia, G.1
Mobili, L.2
Braguglia, A.3
Santoro, F.4
Bagolan, P.5
-
6
-
-
67650323999
-
Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice
-
Catela C, Bilbao-Cortes D, Slonimsky E, Kratsios P, Rosenthal N, Te Welscher P. 2009. Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. Dis Model Mech 2: 283-294.
-
(2009)
Dis Model Mech
, vol.2
, pp. 283-294
-
-
Catela, C.1
Bilbao-Cortes, D.2
Slonimsky, E.3
Kratsios, P.4
Rosenthal, N.5
Te Welscher, P.6
-
7
-
-
0012725928
-
The 4p-syndrome associated with congenital diaphragmatic hernia and dysgenesis of the corpus callosum
-
Del Campo MDFC, Delicado A. 1997. The 4p-syndrome associated with congenital diaphragmatic hernia and dysgenesis of the corpus callosum. Proc Greenwood Genet Center 16: 217-218.
-
(1997)
Proc Greenwood Genet Center
, vol.16
, pp. 217-218
-
-
Del Campo, M.D.F.C.1
Delicado, A.2
-
8
-
-
0029811521
-
Structural chromosome anomalies in congenital diaphragmatic hernia
-
Howe DT, Kilby MD, Sirry H, Barker GM, Roberts E, Davison EV, McHugo J, Whittle MJ. 1996. Structural chromosome anomalies in congenital diaphragmatic hernia. Prenat Diagn 16: 1003-1009.
-
(1996)
Prenat Diagn
, vol.16
, pp. 1003-1009
-
-
Howe, D.T.1
Kilby, M.D.2
Sirry, H.3
Barker, G.M.4
Roberts, E.5
Davison, E.V.6
McHugo, J.7
Whittle, M.J.8
-
9
-
-
57349139036
-
Value of prenatal magnetic resonance imaging in the prediction of postnatal outcome in fetuses with diaphragmatic hernia
-
Jani J, Cannie M, Sonigo P, Robert Y, Moreno O, Benachi A, Vaast P, Gratacos E, Nicolaides KH, Deprest J. 2008. Value of prenatal magnetic resonance imaging in the prediction of postnatal outcome in fetuses with diaphragmatic hernia. Ultrasound Obstet Gynecol 32: 793-799.
-
(2008)
Ultrasound Obstet Gynecol
, vol.32
, pp. 793-799
-
-
Jani, J.1
Cannie, M.2
Sonigo, P.3
Robert, Y.4
Moreno, O.5
Benachi, A.6
Vaast, P.7
Gratacos, E.8
Nicolaides, K.H.9
Deprest, J.10
-
10
-
-
0012745871
-
A case of monosomy 4p and trisomy 4q derived from a meiotic recombination
-
Kobori JS-D, Gregory ST. 1993. A case of monosomy 4p and trisomy 4q derived from a meiotic recombination. Am J Hum Genet Suppl 55: 1578.
-
(1993)
Am J Hum Genet Suppl
, vol.55
, pp. 1578
-
-
Kobori, JS.1
Gregory, S.T.2
-
11
-
-
0018820970
-
The Wolf-Hirschhorn syndrome. II. Pathologic anatomy
-
Lazjuk GI, Lurie IW, Ostrowskaja TI, Kirillova IA, Nedzved MK, Cherstvoy ED, Silyaeva NF. 1980. The Wolf-Hirschhorn syndrome. II. Pathologic anatomy. Clin Genet 18: 6-12.
-
(1980)
Clin Genet
, vol.18
, pp. 6-12
-
-
Lazjuk, G.I.1
Lurie, I.W.2
Ostrowskaja, T.I.3
Kirillova, I.A.4
Nedzved, M.K.5
Cherstvoy, E.D.6
Silyaeva, N.F.7
-
12
-
-
77949264162
-
Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm
-
LopezJimenez N, Gerber S, Popovici V, Mirza S, Copren K, Ta L, Shaw GM, Trueb B, Slavotinek AM. 2009. Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. Hum Genet 127: 325-336.
-
(2009)
Hum Genet
, vol.127
, pp. 325-336
-
-
LopezJimenez, N.1
Gerber, S.2
Popovici, V.3
Mirza, S.4
Copren, K.5
Ta, L.6
Shaw, G.M.7
Trueb, B.8
Slavotinek, A.M.9
-
13
-
-
39149143638
-
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
-
Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR. 2008. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet 45: 71-80.
-
(2008)
J Med Genet
, vol.45
, pp. 71-80
-
-
Maas, N.M.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
-
-
67650461956
-
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome
-
Nimura K, Ura K, Shiratori H, Ikawa M, Okabe M, Schwartz RJ, Kaneda Y. 2009. A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome. Nature 460: 287-291.
-
(2009)
Nature
, vol.460
, pp. 287-291
-
-
Nimura, K.1
Ura, K.2
Shiratori, H.3
Ikawa, M.4
Okabe, M.5
Schwartz, R.J.6
Kaneda, Y.7
-
15
-
-
25644434981
-
Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program
-
Pober BR, Lin A, Russell M, Ackerman KG, Chakravorty S, Strauss B, Westgate MN, Wilson J, Donahoe PK, Holmes LB. 2005. Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program. Am J Med Genet Part A 138A: 81-88.
-
(2005)
Am J Med Genet Part A
, vol.138
, pp. 81-88
-
-
Pober, B.R.1
Lin, A.2
Russell, M.3
Ackerman, K.G.4
Chakravorty, S.5
Strauss, B.6
Westgate, M.N.7
Wilson, J.8
Donahoe, P.K.9
Holmes, L.B.10
-
16
-
-
33847257493
-
Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia
-
Scott DA, Klaassens M, Holder AM, Lally KP, Fernandes CJ, Galjaard RJ, Tibboel D, de Klein A, Lee B. 2007. Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet 16: 424-430.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 424-430
-
-
Scott, D.A.1
Klaassens, M.2
Holder, A.M.3
Lally, K.P.4
Fernandes, C.J.5
Galjaard, R.J.6
Tibboel, D.7
de Klein, A.8
Lee, B.9
-
17
-
-
0032084338
-
Wolf-Hirschhorn syndrome: Case report and review of the chromosomal aberrations associated with diaphragmatic defects
-
Sergi C, Schulze BR, Hager HD, Beedgen B, Zilow E, Linderkamp O, Otto HF, Tariverdian G. 1998. Wolf-Hirschhorn syndrome: Case report and review of the chromosomal aberrations associated with diaphragmatic defects. Pathologica 90: 285-293.
-
(1998)
Pathologica
, vol.90
, pp. 285-293
-
-
Sergi, C.1
Schulze, B.R.2
Hager, H.D.3
Beedgen, B.4
Zilow, E.5
Linderkamp, O.6
Otto, H.F.7
Tariverdian, G.8
-
18
-
-
55949136686
-
Mouse models of Wolf-Hirschhorn syndrome
-
Simon R, Bergemann AD. 2008. Mouse models of Wolf-Hirschhorn syndrome. Am J Med Genet Part C 148C: 275-280.
-
(2008)
Am J Med Genet Part C
, vol.148
, pp. 275-280
-
-
Simon, R.1
Bergemann, A.D.2
-
19
-
-
55949096849
-
Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3
-
South ST, Hannes F, Fisch GS, Vermeesch JR, Zollino M. 2008a. Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3. Am J Med Genet Part C 148C: 270-274.
-
(2008)
Am J Med Genet Part C
, vol.148
, pp. 270-274
-
-
South, S.T.1
Hannes, F.2
Fisch, G.S.3
Vermeesch, J.R.4
Zollino, M.5
-
20
-
-
37249004207
-
Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
-
South ST, Whitby H, Battaglia A, Carey JC, Brothman AR. 2008b. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet 16: 45-52.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 45-52
-
-
South, S.T.1
Whitby, H.2
Battaglia, A.3
Carey, J.C.4
Brothman, A.R.5
-
21
-
-
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
-
22
-
-
0036977384
-
Prenatal diagnosis of a fetus with unbalanced translocation (4;13)(p16;q32) with overlapping features of Patau and Wolf-Hirschhorn syndromes
-
Tapper JK, Zhang S, Harirah HM, Panova NI, Merryman LS, Hawkins JC, Lockhart LH, Gei AB, Velagaleti GV. 2002. Prenatal diagnosis of a fetus with unbalanced translocation (4;13)(p16;q32) with overlapping features of Patau and Wolf-Hirschhorn syndromes. Fetal Diagn Ther 17: 347-351.
-
(2002)
Fetal Diagn Ther
, vol.17
, pp. 347-351
-
-
Tapper, J.K.1
Zhang, S.2
Harirah, H.M.3
Panova, N.I.4
Merryman, L.S.5
Hawkins, J.C.6
Lockhart, L.H.7
Gei, A.B.8
Velagaleti, G.V.9
-
23
-
-
2442442915
-
Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: Congenital diaphragmatic hernia
-
van Dooren MF, Brooks AS, Hoogeboom AJ, van den Hoonaard TL, de Klein JE, Wouters CH, Tibboel D. 2004. Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: Congenital diaphragmatic hernia. Am J Med Genet Part A 127A: 194-196.
-
(2004)
Am J Med Genet Part A
, vol.127
, pp. 194-196
-
-
van Dooren, M.F.1
Brooks, A.S.2
Hoogeboom, A.J.3
van den Hoonaard, T.L.4
de Klein, J.E.5
Wouters, C.H.6
Tibboel, D.7
-
24
-
-
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 Part C
, vol.148
, pp. 257-269
-
-
Zollino, M.1
Murdolo, M.2
Marangi, G.3
Pecile, V.4
Galasso, C.5
Mazzanti, L.6
Neri, G.7
|