207 related articles for article (PubMed ID: 21227728)
1. Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
Kauvar EF; Hu P; Pineda-Alvarez DE; Solomon BD; Dutra A; Pak E; Blessing B; Proud V; Shanske AL; Stevens CA; Rosenfeld JA; Shaffer LG; Roessler E; Muenke M
Mol Genet Metab; 2011 Apr; 102(4):470-80. PubMed ID: 21227728
[TBL] [Abstract][Full Text] [Related]
2. Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice.
Billington CJ; Schmidt B; Marcucio RS; Hallgrimsson B; Gopalakrishnan R; Petryk A
Dis Model Mech; 2015 Feb; 8(2):139-46. PubMed ID: 25468951
[TBL] [Abstract][Full Text] [Related]
3. Physical mapping of the holoprosencephaly critical region in 18p11.3.
Overhauser J; Mitchell HF; Zackai EH; Tick DB; Rojas K; Muenke M
Am J Hum Genet; 1995 Nov; 57(5):1080-5. PubMed ID: 7485158
[TBL] [Abstract][Full Text] [Related]
4. Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.
Hu T; Kruszka P; Martinez AF; Ming JE; Shabason EK; Raam MS; Shaikh TH; Pineda-Alvarez DE; Muenke M
Am J Med Genet C Semin Med Genet; 2018 Jun; 178(2):175-186. PubMed ID: 30182442
[TBL] [Abstract][Full Text] [Related]
5. The expression of twisted gastrulation in postnatal mouse brain and functional implications.
Sun M; Forsman C; Sergi C; Gopalakrishnan R; O'Connor MB; Petryk A
Neuroscience; 2010 Aug; 169(2):920-31. PubMed ID: 20493240
[TBL] [Abstract][Full Text] [Related]
6. Strong variable clinical presentation in 3 patients with 7q terminal deletion.
Frints SG; Schrander-Stumpel CT; Schoenmakers EF; Engelen JJ; Reekers AB; Van den Neucker AM; Smeets E; Devlieger H; Fryns JP
Genet Couns; 1998; 9(1):5-14. PubMed ID: 9555580
[TBL] [Abstract][Full Text] [Related]
7. Prenatal diagnosis of pure partial monosomy 18p associated with holoprosencephaly and congenital heart defects.
Yi Z; Yingjun X; Yongzhen C; Liangying Z; Meijiao S; Baojiang C
Gene; 2014 Jan; 533(2):565-9. PubMed ID: 24091065
[TBL] [Abstract][Full Text] [Related]
8. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Belloni E; Muenke M; Roessler E; Traverso G; Siegel-Bartelt J; Frumkin A; Mitchell HF; Donis-Keller H; Helms C; Hing AV; Heng HH; Koop B; Martindale D; Rommens JM; Tsui LC; Scherer SW
Nat Genet; 1996 Nov; 14(3):353-6. PubMed ID: 8896571
[TBL] [Abstract][Full Text] [Related]
9. Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly.
Roessler E; Ward DE; Gaudenz K; Belloni E; Scherer SW; Donnai D; Siegel-Bartelt J; Tsui LC; Muenke M
Hum Genet; 1997 Aug; 100(2):172-81. PubMed ID: 9254845
[TBL] [Abstract][Full Text] [Related]
10. Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
Rosenfeld JA; Ballif BC; Martin DM; Aylsworth AS; Bejjani BA; Torchia BS; Shaffer LG
Hum Genet; 2010 Apr; 127(4):421-40. PubMed ID: 20066439
[TBL] [Abstract][Full Text] [Related]
11. Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.
Portnoï MF; Gruchy N; Marlin S; Finkel L; Denoyelle F; Dubourg C; Odent S; Siffroi JP; Le Bouc Y; Houang M
Clin Dysmorphol; 2007 Oct; 16(4):247-52. PubMed ID: 17786116
[TBL] [Abstract][Full Text] [Related]
12. Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
Bendavid C; Haddad BR; Griffin A; Huizing M; Dubourg C; Gicquel I; Cavalli LR; Pasquier L; Shanske AL; Long R; Ouspenskaia M; Odent S; Lacbawan F; David V; Muenke M
J Med Genet; 2006 Jun; 43(6):496-500. PubMed ID: 16199538
[TBL] [Abstract][Full Text] [Related]
13. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Nanni L; Ming JE; Bocian M; Steinhaus K; Bianchi DW; Die-Smulders C; Giannotti A; Imaizumi K; Jones KL; Campo MD; Martin RA; Meinecke P; Pierpont ME; Robin NH; Young ID; Roessler E; Muenke M
Hum Mol Genet; 1999 Dec; 8(13):2479-88. PubMed ID: 10556296
[TBL] [Abstract][Full Text] [Related]
14. Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.
Horn D; Tönnies H; Neitzel H; Wahl D; Hinkel GK; von Moers A; Bartsch O
Am J Med Genet A; 2004 Jul; 128A(1):85-92. PubMed ID: 15211664
[TBL] [Abstract][Full Text] [Related]
15. Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes.
Chen CP; Huang JP; Chen YY; Chern SR; Wu PS; Su JW; Pan CW; Wang W
Gene; 2013 Sep; 527(2):636-41. PubMed ID: 23850725
[TBL] [Abstract][Full Text] [Related]
16. Holoprosencephaly: from Homer to Hedgehog.
Ming JE; Muenke M
Clin Genet; 1998 Mar; 53(3):155-63. PubMed ID: 9630065
[TBL] [Abstract][Full Text] [Related]
17. Holoprosencephaly: molecular study of a California population.
Nanni L; Croen LA; Lammer EJ; Muenke M
Am J Med Genet; 2000 Feb; 90(4):315-9. PubMed ID: 10710230
[TBL] [Abstract][Full Text] [Related]
18. NOTCH, a new signaling pathway implicated in holoprosencephaly.
Dupé V; Rochard L; Mercier S; Le Pétillon Y; Gicquel I; Bendavid C; Bourrouillou G; Kini U; Thauvin-Robinet C; Bohan TP; Odent S; Dubourg C; David V
Hum Mol Genet; 2011 Mar; 20(6):1122-31. PubMed ID: 21196490
[TBL] [Abstract][Full Text] [Related]
19. Enhanced osteoclastogenesis causes osteopenia in twisted gastrulation-deficient mice through increased BMP signaling.
Sotillo Rodriguez JE; Mansky KC; Jensen ED; Carlson AE; Schwarz T; Pham L; MacKenzie B; Prasad H; Rohrer MD; Petryk A; Gopalakrishnan R
J Bone Miner Res; 2009 Nov; 24(11):1917-26. PubMed ID: 19419314
[TBL] [Abstract][Full Text] [Related]
20. Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes.
Kamnasaran D; Chen CP; Devriendt K; Mehta L; Cox DW
Genomics; 2005 May; 85(5):608-21. PubMed ID: 15820313
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]