-
1
-
-
33645867658
-
Fog2 is required for normal diaphragm and lung development in mice and humans
-
Ackerman KG, Herron BJ, Vargas SO, Huang H, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR. 2005. Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet 1:e10.
-
(2005)
PLoS Genet
, vol.1
-
-
Ackerman, K.G.1
Herron, B.J.2
Vargas, S.O.3
Huang, H.4
Tevosian, S.G.5
Kochilas, L.6
Rao, C.7
Pober, B.R.8
Babiuk, R.P.9
Epstein, J.A.10
Greer, J.J.11
Beier, D.R.12
-
3
-
-
0025356103
-
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1)
-
Cohn DH, Starman BJ, Blumberg B, Byers PH. 1990. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am J Hum Genet 46:591-601.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 591-601
-
-
Cohn, D.H.1
Starman, B.J.2
Blumberg, B.3
Byers, P.H.4
-
4
-
-
0029021729
-
Diaphragmatic hernia in Denys-Drash syndrome
-
Devriendt K, Deloof E, Moerman P, Legius E, Vanhole C, de Zegher F, Proesmans W, Devlieger H. 1995. Diaphragmatic hernia in Denys-Drash syndrome. Am J Med Genet 57:97-101.
-
(1995)
Am J Med Genet
, vol.57
, pp. 97-101
-
-
Devriendt, K.1
Deloof, E.2
Moerman, P.3
Legius, E.4
Vanhole, C.5
De Zegher, F.6
Proesmans, W.7
Devlieger, H.8
-
5
-
-
0023202062
-
Fryns syndrome: A variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia
-
Fryns JP. 1987. Fryns syndrome: A variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet 24:271-274.
-
(1987)
J Med Genet
, vol.24
, pp. 271-274
-
-
Fryns, J.P.1
-
6
-
-
0018305302
-
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities
-
Fryns JP, Moerman F, Goddeeris P, Bossuyt C, Van den Berghe H. 1979. A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet 50: 65-70.
-
(1979)
Hum Genet
, vol.50
, pp. 65-70
-
-
Fryns, J.P.1
Moerman, F.2
Goddeeris, P.3
Bossuyt, C.4
Van Den Berghe, H.5
-
7
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
8
-
-
0025736002
-
Osteochondrodysplasia in Fryns syndrome
-
Kershisnik MM, Craven CM, Jung AL, Carey JC, Knisely AS. 1991. Osteochondrodysplasia in Fryns syndrome. Am J Dis Child 145:656-660.
-
(1991)
Am J Dis Child
, vol.145
, pp. 656-660
-
-
Kershisnik, M.M.1
Craven, C.M.2
Jung, A.L.3
Carey, J.C.4
Knisely, A.S.5
-
9
-
-
0034754559
-
High resolution comparative genomic hybridisation in clinical cytogenetics
-
Kirchhoff M, Rose H, Lundsteen C. 2001. High resolution comparative genomic hybridisation in clinical cytogenetics. J Med Genet 38:740-744.
-
(2001)
J Med Genet
, vol.38
, pp. 740-744
-
-
Kirchhoff, M.1
Rose, H.2
Lundsteen, C.3
-
10
-
-
13444287933
-
Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
-
Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. 2005. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med Genet 42:121-128.
-
(2005)
J Med Genet
, vol.42
, pp. 121-128
-
-
Le Caignec, C.1
Boceno, M.2
Saugier-Veber, P.3
Jacquemont, S.4
Joubert, M.5
David, A.6
Frebourg, T.7
Rival, J.M.8
-
11
-
-
28444496732
-
Cardiovascular malformations in Fryns Syndrome: Is there a pathogenic role for Neural Crest cells?
-
In press
-
Lin AE, Pober BR, Mullen MP, Slavotinek AM. 2005. Cardiovascular malformations in Fryns Syndrome: Is there a pathogenic role for Neural Crest cells? Am J Med Genet (In press).
-
(2005)
Am J Med Genet
-
-
Lin, A.E.1
Pober, B.R.2
Mullen, M.P.3
Slavotinek, A.M.4
-
12
-
-
0141783992
-
Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice
-
Liu J, Zhang L, Wang D, Shen H, Jiang M, Mei P, Hayden PS, Sedor JR, Hu H. 2003. Congenital diaphragmatic hernia, kidney agenesis and cardiac defects associated with Slit3-deficiency in mice. Mech Dev 120:1059-1070.
-
(2003)
Mech Dev
, vol.120
, pp. 1059-1070
-
-
Liu, J.1
Zhang, L.2
Wang, D.3
Shen, H.4
Jiang, M.5
Mei, P.6
Hayden, P.S.7
Sedor, J.R.8
Hu, H.9
-
13
-
-
0034081761
-
Digit effects produced by prenatal exposure to antiepileptic drugs
-
Lu MC, Sammel MD, Cleveland RH, Ryan LM, Holmes LB. 2000. Digit effects produced by prenatal exposure to antiepileptic drugs. Teratology 61:277-283.
-
(2000)
Teratology
, vol.61
, pp. 277-283
-
-
Lu, M.C.1
Sammel, M.D.2
Cleveland, R.H.3
Ryan, L.M.4
Holmes, L.B.5
-
14
-
-
0027279819
-
Campomelic dysplasia: Evidence of autosomal dominant inheritance
-
Lynch SA, Gaunt ML, Minford AM. 1993. Campomelic dysplasia: Evidence of autosomal dominant inheritance. J Med Genet 30:683-686.
-
(1993)
J Med Genet
, vol.30
, pp. 683-686
-
-
Lynch, S.A.1
Gaunt, M.L.2
Minford, A.M.3
-
15
-
-
0022369562
-
The Fryns syndrome: Diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance
-
Meinecke P, Fryns JP. 1985. The Fryns syndrome: Diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. Clin Genet 28:516-520.
-
(1985)
Clin Genet
, vol.28
, pp. 516-520
-
-
Meinecke, P.1
Fryns, J.P.2
-
16
-
-
0024269679
-
The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): Report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome
-
Moerman P, Fryns JP, Vandenberghe K, Devlieger H, Lauweryns JM. 1988. The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): Report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am J Med Genet 31:805-814.
-
(1988)
Am J Med Genet
, vol.31
, pp. 805-814
-
-
Moerman, P.1
Fryns, J.P.2
Vandenberghe, K.3
Devlieger, H.4
Lauweryns, J.M.5
-
17
-
-
0027228360
-
Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism
-
Petrella R, Rabinowitz JG, Steinmann B, Hirschhorn K. 1993. Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism. Am J Med Genet 47:187-197.
-
(1993)
Am J Med Genet
, vol.47
, pp. 187-197
-
-
Petrella, R.1
Rabinowitz, J.G.2
Steinmann, B.3
Hirschhorn, K.4
-
18
-
-
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 A
, 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
-
19
-
-
0034684716
-
Variability in the phenotypic expression of Fryns syndrome: A report of two sibships
-
Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H. 2000. Variability in the phenotypic expression of Fryns syndrome: A report of two sibships. Am J Med Genet 95:415-424.
-
(2000)
Am J Med Genet
, vol.95
, pp. 415-424
-
-
Ramsing, M.1
Gillessen-Kaesbach, G.2
Holzgreve, W.3
Fritz, B.4
Rehder, H.5
-
20
-
-
30144443630
-
WT1 mutation is a cause of congenital diaphragmatic hernia associated with Meacham syndrome
-
October, 2004 Toronto, Ontario, Canada
-
Reardon W, Smith S, Suri M, Grant J, O'Neill D, Kelehan D, Fitzpatrick D, Hastie ND. 2004. WT1 mutation is a cause of congenital diaphragmatic hernia associated with Meacham syndrome. Presented at the annual meeting of the American Society of Human Genetics, October 2000, 2004. Toronto, Ontario, Canada.
-
(2000)
Annual Meeting of the American Society of Human Genetics
-
-
Reardon, W.1
Smith, S.2
Suri, M.3
Grant, J.4
O'Neill, D.5
Kelehan, D.6
Fitzpatrick, D.7
Hastie, N.D.8
-
22
-
-
4243901594
-
Interstitial deletion of the long arm of chromosome 1: Del(1)(pter → 42.11::q42.3 → qter)
-
Rogers JC, Harris DJ, Pasztor LM. 1995. Interstitial deletion of the long arm of chromosome 1: del(1)(pter → 42.11::q42.3 → qter). Am J Hum Genet 57:A125.
-
(1995)
Am J Hum Genet
, vol.57
-
-
Rogers, J.C.1
Harris, D.J.2
Pasztor, L.M.3
-
23
-
-
0023101778
-
Fryns syndrome in a girl born to consanguineous parents
-
Schwyzer U, Briner J, Schinzel A. 1987. Fryns syndrome in a girl born to consanguineous parents. Acta Paediatr Scand 76:167-171.
-
(1987)
Acta Paediatr Scand
, vol.76
, pp. 167-171
-
-
Schwyzer, U.1
Briner, J.2
Schinzel, A.3
-
24
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. 2004. Large-scale copy number polymorphism in the human genome. Science 305:525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
Maner, S.7
Massa, H.8
Walker, M.9
Chi, M.10
Navin, N.11
Lucito, R.12
Healy, J.13
Hicks, J.14
Ye, K.15
Reiner, A.16
Gilliam, T.C.17
Trask, B.18
Patterson, N.19
Zetterberg, A.20
Wigler, M.21
more..
-
25
-
-
11144356173
-
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/ mental retardation and dysmorphic features
-
Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. 2004. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/ mental retardation and dysmorphic features. J Med Genet 41: 241-248.
-
(2004)
J Med Genet
, vol.41
, pp. 241-248
-
-
Shaw-Smith, C.1
Redon, R.2
Rickman, L.3
Rio, M.4
Willatt, L.5
Fiegler, H.6
Firth, H.7
Sanlaville, D.8
Winter, R.9
Colleaux, L.10
Bobrow, M.11
Carter, N.P.12
-
26
-
-
0942279747
-
Fryns syndrome: A review of the phenotype and diagnostic guidelines
-
Slavotinek AM. 2004. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet 124A:427-433.
-
(2004)
Am J Med Genet
, vol.124 A
, pp. 427-433
-
-
Slavotinek, A.M.1
-
27
-
-
20444445000
-
The genetics of congenital diaphragmatic hernia
-
Slavotinek AM. 2005. The genetics of congenital diaphragmatic hernia. Semin Perinatol 29:77-85.
-
(2005)
Semin Perinatol
, vol.29
, pp. 77-85
-
-
Slavotinek, A.M.1
-
28
-
-
30144434150
-
Detection of submicroscopic chromosome aberrations and DNA sequence variants in congenital diaphragmatic hernia patients using array comparative genomic hybridization
-
Slavotinek AM, Davis R, Leeth E, Keller RL, Nobuhara KK. 2005a. Detection of submicroscopic chromosome aberrations and DNA sequence variants in congenital diaphragmatic hernia patients using array comparative genomic hybridization. 26th Annual DW Smith Workshop August 2-5, 2005.
-
(2005)
26th Annual DW Smith Workshop August 2-5, 2005
-
-
Slavotinek, A.M.1
Davis, R.2
Leeth, E.3
Keller, R.L.4
Nobuhara, K.K.5
-
30
-
-
0028020923
-
Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation
-
Smith SA, Martin KE, Dodd KL, Young ID. 1994. Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. Clin Dysmorphol 3:287-291.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 287-291
-
-
Smith, S.A.1
Martin, K.E.2
Dodd, K.L.3
Young, I.D.4
-
31
-
-
0030449719
-
Etiologic and genetic factors in congenital diaphragmatic hernia
-
Tibboel D, Gaag AV. 1996. Etiologic and genetic factors in congenital diaphragmatic hernia. Clin Perinatol 23:689-699.
-
(1996)
Clin Perinatol
, vol.23
, pp. 689-699
-
-
Tibboel, D.1
Gaag, A.V.2
-
32
-
-
4243094002
-
Congenital malformations of the diaphragm: Findings of the West Midlands Congenital Anomaly Register 1995-2000
-
Tonks A, Wyldes M, Somerset DA, Dent K, Abhyankar A, Bagchi I, Lander A, Roberts E. Kilby MD. 2004. Congenital malformations of the diaphragm: Findings of the West Midlands Congenital Anomaly Register 1995-2000. Prenat Diagn 24: 596-604.
-
(2004)
Prenat Diagn
, vol.24
, pp. 596-604
-
-
Tonks, A.1
Wyldes, M.2
Somerset, D.A.3
Dent, K.4
Abhyankar, A.5
Bagchi, I.6
Lander, A.7
Roberts, E.8
Kilby, M.D.9
-
34
-
-
0028961702
-
Skeletal manifestations in Fryns syndrome
-
Tsukahara M, Sase M, Tateishi H, Saito T, Kato H, Furukawa S. 1995. Skeletal manifestations in Fryns syndrome. Am J Med Genet 55:217-220.
-
(1995)
Am J Med Genet
, vol.55
, pp. 217-220
-
-
Tsukahara, M.1
Sase, M.2
Tateishi, H.3
Saito, T.4
Kato, H.5
Furukawa, S.6
-
35
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG. 2004. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955-957.
-
(2004)
Nat Genet
, vol.36
, pp. 955-957
-
-
Vissers, L.E.1
Van Ravenswaaij, C.M.2
Admiraal, R.3
Hurst, J.A.4
De Vries, B.B.5
Janssen, I.M.6
Van Der Vliet, W.A.7
Huys, E.H.8
De Jong, P.J.9
Hamel, B.C.10
Schoenmakers, E.F.11
Brunner, H.G.12
Veltman, J.A.13
Van Kessel, A.G.14
-
36
-
-
0023938890
-
Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: Assignment of a human ferritin gene
-
Youssoufian H, Chance P, Tuck-Muller CM, Jabs EW. 1988. Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: Assignment of a human ferritin gene. Hum Genet 78:267-270.
-
(1988)
Hum Genet
, vol.78
, pp. 267-270
-
-
Youssoufian, H.1
Chance, P.2
Tuck-Muller, C.M.3
Jabs, E.W.4
-
37
-
-
0038642076
-
A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3
-
Yuan W, Rao Y, Babiuk RP, Greer JJ, Wu JY, Ornitz DM. 2003. A genetic model for a central (septum transversum) congenital diaphragmatic hernia in mice lacking Slit3. Proc Natl Acad Sci USA 100:5217-5222.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 5217-5222
-
-
Yuan, W.1
Rao, Y.2
Babiuk, R.P.3
Greer, J.J.4
Wu, J.Y.5
Ornitz, D.M.6
|