116 related articles for article (PubMed ID: 34586326)
1. 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]
2. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
Yagnik G; Ghuman A; Kim S; Stevens CG; Kimonis V; Stoler J; Sanchez-Lara PA; Bernstein JA; Naydenov C; Drissi H; Cunningham ML; Kim J; Boyadjiev SA
Hum Mutat; 2012 Dec; 33(12):1626-9. PubMed ID: 22829454
[TBL] [Abstract][Full Text] [Related]
3. Clinical interest of molecular study in cases of isolated midline craniosynostosis.
Di Rocco F; Rossi M; Verlut I; Szathmari A; Beuriat PA; Chatron N; Chauvel-Picard J; Mottolese C; Monin P; Vinchon M; Guernouche S; Collet C
Eur J Hum Genet; 2023 Jun; 31(6):621-628. PubMed ID: 36732661
[TBL] [Abstract][Full Text] [Related]
4.
Tung ML; Chandra B; Kotlarek J; Melo M; Phillippi E; Justice CM; Musolf A; Boyadijev SA; Romitti PA; Darbro B; El-Shanti H
Genes (Basel); 2022 Sep; 13(9):. PubMed ID: 36140816
[TBL] [Abstract][Full Text] [Related]
5. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Lee E; Le T; Zhu Y; Elakis G; Turner A; Lo W; Venselaar H; Verrenkamp CA; Snow N; Mowat D; Kirk EP; Sachdev R; Smith J; Brown NJ; Wallis M; Barnett C; McKenzie F; Freckmann ML; Collins F; Chopra M; Gregersen N; Hayes I; Rajagopalan S; Tan TY; Stark Z; Savarirayan R; Yeung A; Adès L; Gattas M; Gibson K; Gabbett M; Amor DJ; Lattanzi W; Boyd S; Haan E; Gianoutsos M; Cox TC; Buckley MF; Roscioli T
Genet Med; 2018 Sep; 20(9):1061-1068. PubMed ID: 29215649
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.
Xu Y; Sun S; Li N; Yu T; Wang X; Wang J; Bao N
Gene; 2018 Jan; 641():144-150. PubMed ID: 29037998
[TBL] [Abstract][Full Text] [Related]
8. Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.
Chaudhry A; Sabatini P; Han L; Ray PN; Forrest C; Bowdin S
Am J Med Genet A; 2015 Nov; 167A(11):2544-7. PubMed ID: 26097063
[TBL] [Abstract][Full Text] [Related]
9. Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
Walters ME; Lacassie Y; Azamian M; Franciskovich R; Zapata G; Hernandez PP; Liu P; Campbell IM; Bostwick BL; Lalani SR
Am J Med Genet A; 2021 Mar; 185(3):916-922. PubMed ID: 33369125
[TBL] [Abstract][Full Text] [Related]
10. Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.
Seto ML; Hing AV; Chang J; Hu M; Kapp-Simon KA; Patel PK; Burton BK; Kane AA; Smyth MD; Hopper R; Ellenbogen RG; Stevenson K; Speltz ML; Cunningham ML
Am J Med Genet A; 2007 Apr; 143A(7):678-86. PubMed ID: 17343269
[TBL] [Abstract][Full Text] [Related]
11. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
Timberlake AT; Furey CG; Choi J; Nelson-Williams C; ; Loring E; Galm A; Kahle KT; Steinbacher DM; Larysz D; Persing JA; Lifton RP
Proc Natl Acad Sci U S A; 2017 Aug; 114(35):E7341-E7347. PubMed ID: 28808027
[TBL] [Abstract][Full Text] [Related]
12. Homozygous
Luyckx I; Walton IS; Boeckx N; Van Schil K; Pang C; De Praeter M; Lord H; Watson CM; Bonthron DT; Van Laer L; Wilkie AOM; Loeys B
J Med Genet; 2024 Mar; 61(4):363-368. PubMed ID: 38290823
[TBL] [Abstract][Full Text] [Related]
13. Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.
Ye X; Guilmatre A; Reva B; Peter I; Heuzé Y; Richtsmeier JT; Fox DJ; Goedken RJ; Jabs EW; Romitti PA
Plast Reconstr Surg; 2016 Mar; 137(3):952-961. PubMed ID: 26910679
[TBL] [Abstract][Full Text] [Related]
14. Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.
Merrill AE; Bochukova EG; Brugger SM; Ishii M; Pilz DT; Wall SA; Lyons KM; Wilkie AO; Maxson RE
Hum Mol Genet; 2006 Apr; 15(8):1319-28. PubMed ID: 16540516
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis.
Mefford HC; Shafer N; Antonacci F; Tsai JM; Park SS; Hing AV; Rieder MJ; Smyth MD; Speltz ML; Eichler EE; Cunningham ML
Am J Med Genet A; 2010 Sep; 152A(9):2203-10. PubMed ID: 20683987
[TBL] [Abstract][Full Text] [Related]
17. Variants in ALX4 and their association with genitourinary defects.
Chen CH; Bournat JC; Wilken N; Rosenfeld JA; Zhang J; Seth A; Jorgez CJ
Andrology; 2020 Sep; 8(5):1243-1255. PubMed ID: 32385972
[TBL] [Abstract][Full Text] [Related]
18. Clinical and genetic characteristics of craniosynostosis in Hungary.
Bessenyei B; Nagy A; Szakszon K; Mokánszki A; Balogh E; Ujfalusi A; Tihanyi M; Novák L; Bognár L; Oláh É
Am J Med Genet A; 2015 Dec; 167A(12):2985-91. PubMed ID: 26289989
[TBL] [Abstract][Full Text] [Related]
19. Nonsyndromic craniosynostosis: novel coding variants.
Sewda A; White SR; Erazo M; Hao K; García-Fructuoso G; Fernández-Rodriguez I; Heuzé Y; Richtsmeier JT; Romitti PA; Reva B; Jabs EW; Peter I
Pediatr Res; 2019 Mar; 85(4):463-468. PubMed ID: 30651579
[TBL] [Abstract][Full Text] [Related]
20. Two locus inheritance of non-syndromic midline craniosynostosis via rare
Timberlake AT; Choi J; Zaidi S; Lu Q; Nelson-Williams C; Brooks ED; Bilguvar K; Tikhonova I; Mane S; Yang JF; Sawh-Martinez R; Persing S; Zellner EG; Loring E; Chuang C; Galm A; Hashim PW; Steinbacher DM; DiLuna ML; Duncan CC; Pelphrey KA; Zhao H; Persing JA; Lifton RP
Elife; 2016 Sep; 5():. PubMed ID: 27606499
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
