200 related articles for article (PubMed ID: 20683987)
21. Segmental copy-number variation observed in Japanese by array-CGH.
Takahashi N; Tsuyama N; Sasaki K; Kodaira M; Satoh Y; Kodama Y; Sugita K; Katayama H
Ann Hum Genet; 2008 Mar; 72(Pt 2):193-204. PubMed ID: 18205891
[TBL] [Abstract][Full Text] [Related]
22. Pure de novo partial trisomy 6p in a girl with craniosynostosis.
Varvagiannis K; Stefanidou A; Gyftodimou Y; Lord H; Williams L; Sarri C; Pandelia E; Bazopoulou-Kyrkanidou E; Noakes C; Lester T; Wilkie AO; Petersen MB
Am J Med Genet A; 2013 Feb; 161A(2):343-51. PubMed ID: 23307468
[TBL] [Abstract][Full Text] [Related]
23. Polycystin-1 modulates RUNX2 activation and osteocalcin gene expression via ERK signalling in a human craniosynostosis cell model.
Katsianou M; Papavassiliou KA; Zoi I; Gargalionis AN; Panagopoulos D; Themistocleous MS; Piperi C; Papavassiliou AG; Basdra EK
J Cell Mol Med; 2021 Apr; 25(7):3216-3225. PubMed ID: 33656806
[TBL] [Abstract][Full Text] [Related]
24. Insights into the development of molecular therapies for craniosynostosis.
Kosty J; Vogel TW
Neurosurg Focus; 2015 May; 38(5):E2. PubMed ID: 25929964
[TBL] [Abstract][Full Text] [Related]
25. Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.
Lesch KP; Selch S; Renner TJ; Jacob C; Nguyen TT; Hahn T; Romanos M; Walitza S; Shoichet S; Dempfle A; Heine M; Boreatti-Hümmer A; Romanos J; Gross-Lesch S; Zerlaut H; Wultsch T; Heinzel S; Fassnacht M; Fallgatter A; Allolio B; Schäfer H; Warnke A; Reif A; Ropers HH; Ullmann R
Mol Psychiatry; 2011 May; 16(5):491-503. PubMed ID: 20308990
[TBL] [Abstract][Full Text] [Related]
26. An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.
Jehee FS; Bertola DR; Yelavarthi KK; Krepischi-Santos AC; Kim C; Vianna-Morgante AM; Vermeesch JR; Passos-Bueno MR
Am J Med Genet A; 2007 Aug; 143A(16):1912-8. PubMed ID: 17632770
[TBL] [Abstract][Full Text] [Related]
27. High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.
Jehee FS; Krepischi-Santos AC; Rocha KM; Cavalcanti DP; Kim CA; Bertola DR; Alonso LG; D'Angelo CS; Mazzeu JF; Froyen G; Lugtenberg D; Vianna-Morgante AM; Rosenberg C; Passos-Bueno MR
J Med Genet; 2008 Jul; 45(7):447-50. PubMed ID: 18456720
[TBL] [Abstract][Full Text] [Related]
28. Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.
Kim J; Won HH; Kim Y; Choi JR; Yu N; Lee KA
J Med Genet; 2015 Oct; 52(10):706-9. PubMed ID: 26044810
[TBL] [Abstract][Full Text] [Related]
29. De novo ALX4 variant detected in child with non-syndromic craniosynostosis.
Fonteles CS; Finnell RH; Lei Y; Zurita-Jimenez ME; Monteiro AJ; George TM; Harshbarger RJ
Braz J Med Biol Res; 2021; 54(11):e11396. PubMed ID: 34586326
[TBL] [Abstract][Full Text] [Related]
30. Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis.
Marques F; Heredia R; de Oliveira C; Cardoso MT; Mazzeu J; Pogue R
Am J Med Genet A; 2015 Feb; 167A(2):412-6. PubMed ID: 25424318
[TBL] [Abstract][Full Text] [Related]
31. IGF1R variants associated with isolated single suture craniosynostosis.
Cunningham ML; Horst JA; Rieder MJ; Hing AV; Stanaway IB; Park SS; Samudrala R; Speltz ML
Am J Med Genet A; 2011 Jan; 155A(1):91-7. PubMed ID: 21204214
[TBL] [Abstract][Full Text] [Related]
32. Positron emission tomography studies confirm the need for early surgical intervention in patients with single-suture craniosynostosis.
David LR; Genecov DG; Camastra AA; Wilson JA; Argenta LC
J Craniofac Surg; 1999 Jan; 10(1):38-42. PubMed ID: 10388424
[TBL] [Abstract][Full Text] [Related]
33. Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.
Bessenyei B; Nagy A; Balogh E; Novák L; Bognár L; Knegt AC; Oláh E
Am J Med Genet A; 2013 Oct; 161A(10):2641-4. PubMed ID: 23949953
[TBL] [Abstract][Full Text] [Related]
34. The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
Wayhelova M; Smetana J; Vallova V; Hladilkova E; Filkova H; Hanakova M; Vilemova M; Nikolova P; Gromesova B; Gaillyova R; Kuglik P
BMC Med Genomics; 2019 Jul; 12(1):111. PubMed ID: 31337399
[TBL] [Abstract][Full Text] [Related]
35. Y-craniosynostosis by premature fusion of the metopic and coronal sutures: a new nosological entity or a variety of Saethre-Chotzen syndrome?
di Rocco F; Benoit A; Vigneron J; Segura PB; Klein O; Collet C; Arnaud E
Birth Defects Res A Clin Mol Teratol; 2015 Apr; 103(4):306-10. PubMed ID: 25808521
[TBL] [Abstract][Full Text] [Related]
36. SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E; Cuellar A; Bala K; Swagemakers SMA; Koelling N; McGowan SJ; Phipps JM; Balasubramanian M; Cunningham ML; Douzgou S; Lattanzi W; Morton JEV; Shears D; Weber A; Wilson LC; Lord H; Lester T; Johnson D; Wall SA; Twigg SRF; Mathijssen IMJ; Boardman-Pretty F; ; Boyadjiev SA; Wilkie AOM
Genet Med; 2020 Sep; 22(9):1498-1506. PubMed ID: 32499606
[TBL] [Abstract][Full Text] [Related]
37. MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization.
Pelegrino Kde O; Sugayama S; Lezirovitz K; Catelani AL; Kok F; Chauffaille Mde L
Clinics (Sao Paulo); 2012 Aug; 67(8):981-5. PubMed ID: 22948472
[No Abstract] [Full Text] [Related]
38. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
Muller EA; Aradhya S; Atkin JF; Carmany EP; Elliott AM; Chudley AE; Clark RD; Everman DB; Garner S; Hall BD; Herman GE; Kivuva E; Ramanathan S; Stevenson DA; Stockton DW; Hudgins L
Am J Med Genet A; 2012 Feb; 158A(2):391-9. PubMed ID: 22190277
[TBL] [Abstract][Full Text] [Related]
39. Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region.
Tagariello A; Heller R; Greven A; Kalscheuer VM; Molter T; Rauch A; Kress W; Winterpacht A
J Med Genet; 2006 Jun; 43(6):534-40. PubMed ID: 16258006
[TBL] [Abstract][Full Text] [Related]
40. Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.
Grillo L; Greco D; Pettinato R; Avola E; Potenza N; Castiglia L; Spalletta A; Amata S; Di Benedetto D; Luciano D; Romano C; Fichera M
Gene; 2014 Jan; 534(2):435-9. PubMed ID: 24120895
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
