Genetic advances in craniosynostosis

Cites (296)

Items 201–295 of 295

1. Metopic craniosynostosis due to mutations inGLI3: A novel association
   Donna M. McDonald‐McGinn, Holly A. Feret, Hyun‐Duck Nah, Scott Paul P. Bartlett, Linton A. Whitáker, Elaine H. Zackai · 2010 · American Journal of Medical Genetics Part A
2. Effectiveness of ultrasonographic evaluation of the cranial sutures in children with suspected craniosynostosis
   Natalia Simanovsky, Nurith Hiller, Benjamin Z. Koplewitz, Katya Rozovsky · 2008 · European Radiology
3. A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene
   Robert B. Hufnagel, Sarah L. Zimmerman, Laura A. Krueger, Patricia L. Bender, Zubair M. Ahmed, Howard M. Saal · 2015 · American Journal of Medical Genetics Part A
4. A ciliopathy with hydrocephalus, isolated craniosynostosis, hypertelorism, and clefting caused by deletion of Kif3a
   B. Liu, Serafine Chen, Chelsey A. Johnson, Jill Ann Helms · 2014 · Reproductive Toxicology
5. 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, F S, Krepischi-Santos, A C V, Rocha, K M, Cavalcanti, D P, Kim, C A, Bertola, D R, Alonso, L G, D’Angelo, C S, Mazzeu, J F, Froyen, G et al. · 2008 · Journal of Medical Genetics
6. ALX4 gain-of-function mutations in nonsyndromic craniosynostosis
   Garima Yagnik, Apar Ghuman, Sun‐Don Kim, Christina Stevens, Virginia E. Kimonis, Joan Marilyn Stoler, Pedro Alfonso Sanchez-Lara, Jonathan Adam Bernstein, Cyrill Lubenov Naydenov, Hicham Drissi et al. · 2012 · Human Mutation
7. High-frequency ultrasound confirmation of positional plagiocephaly
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8. Bilambdoid and Posterior Sagittal Synostosis
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9. Hospital use and associated costs of children aged zero‐to‐two years with craniofacial malformations in Massachusetts
   Judith Weiß, Milton Kotelchuck, Scott Dennis Grosse, Susan E. Manning, Marlene Anderka, Diego F. Wyszynski, Howard Cabral, Wanda Denise Barfield, Raul I. García, Emily Lu et al. · 2009 · Birth Defects Research Part A Clinical and Molecular Teratology
10. Early endoscopy-assisted treatment of multiple-suture craniosynostosis
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11. Boston type craniosynostosis: Report of a second mutation in MSX2
    Joyce M.G. Florisson, Annemieke J.M.H. Verkerk, Daphne Huigh, A. Jeannette M. Hoogeboom, Sigrid M. A. Swagemakers, Andreas Kremer, Daphne Heijsman, Maarten Hans Lequin, Irene M.J. Mathijssen, Peter J. van der Spek · 2013 · American Journal of Medical Genetics Part A
12. IGF1R variants associated with isolated single suture craniosynostosis
    Michael L. Cunningham, Jeremy A. Horst, Mark J. Rieder, Anne V Hing, Ian B. Stanaway, Sarah S. Park, Ram Samudrala, Matthew L. Speltz · 2010 · American Journal of Medical Genetics Part A
13. Craniosynostosis with extra copy of MSX2 in a patient with partial 5q‐trisomy
    Takashi Shiihara, Mitsuhiro Kato, Toshiyuki Kimura, Kiyoshi Hayasaka, Shunji Yamamori, Tsutomu Ogata · 2004 · American Journal of Medical Genetics Part A
14. Tracing Craniosynostosis to Its Developmental Stage Through Bone Center Displacement
    Irene M.J. Mathijssen, J. van Splunder, Christl Vermeij‐Keers, H. Pieterman, T. H. Rob de Jong, Mark P. Mooney, J. M. Vaandrager, Barry L. Eppley · 1999 · Journal of Craniofacial Surgery
15. The BMP Ligand Gdf6 Prevents Differentiation of Coronal Suture Mesenchyme in Early Cranial Development
    Dawn Elizabeth Clendenning, Douglas P. Mortlock · 2012 · PLoS ONE
16. EphA4 Receptor Is a Novel Negative Regulator of Osteoclast Activity
    Virginia M. Stiffel, Mehran Amoui, Matilda H.‐C. Sheng, Subburaman Mohan, K.‐H. William Lau · 2013 · Journal of Bone and Mineral Research
17. Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit
    Usha Kini, Jane A. Hurst, Jo C. Byren, Steven Arthur Wall, David Johnson, Andrew O.M. Wilkie · 2010 · American Journal of Medical Genetics Part A
18. Twist is an integrator of SHH, FGF, and BMP signaling
    Christoph Hornik, Beate Brand‐Saberi, Stefan Rudloff, Bodo Christ, Ernst-Martin F�chtbauer · 2004 · Anatomy and Embryology
19. Craniectomy Gap Patency and Neosuture Formation following Endoscopic Suturectomy for Unilateral Coronal Craniosynostosis
    Tina M. Sauerhammer, Mitchel Seruya, Alexander E. Ropper, Albert K. Oh, Mark R. Proctor, Gary F. Rogers · 2014 · Plastic & Reconstructive Surgery
20. TGF‐β2 stimulates cranial suture closure through activation of the Erk‐MAPK pathway
    Sang Won Lee, Kang‐Young Choi, Je‐Yoel Cho, Sung-Hwa Jung, Kun‐Bae Song, Eui Kyun Park, Je‐Yong Choi, Hong‐In Shin, Shin‐Yoon Kim, Kyung Mi Woo et al. · 2006 · Journal of Cellular Biochemistry
21. Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region
    Andreas Tagariello, R Heller, A Greven, Vera M. Kalscheuer, T Molter, Anita M. Rauch, W Kress, A Winterpacht · 2005 · Journal of Medical Genetics
22. Retinoic acid-induced premature osteoblast-to-preosteocyte transitioning has multiple effects on calvarial development
    Shirine Jeradi, Matthias Hammerschmidt · 2016 · Development
23. Craniofacial Shape Variation in Twist1+/− Mutant Mice
    Trish Elizabeth Parsons, Seth Michael Weinberg, Kameron Khaksarfard, R. Nicole Howie, Mohammed E. Elsalanty, Jack Chung-Kai Yu, James Cray · 2014 · The Anatomical Record
24. Msx1 and Msx2 have shared essential functions in neural crest but may be dispensable in epidermis and axis formation in Xenopus
    Deepak Khadka, Ting Luo, Thomas D. Sargent · 2006 · The International Journal of Developmental Biology
25. Lim mineralization protein is involved in the premature calvarial ossification in sporadic craniosynostoses
    Wanda Lattanzi, Marta Barba, Federica Novegno, Luca Massimi, Valentina Tesori, Gianpiero Tamburrini, Salvatore Galgano, Camilla Bernardini, Massimo Caldarelli, Fabrizio Michetti et al. · 2012 · Bone
26. Studies of malformation syndromes of man XXXIX: A craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: ?Craniofacial dyssynostosis?
    Gerhard Neuh�user, Elisabeth G. Kaveggia, John M. Opitz · 1976 · European Journal of Pediatrics
27. Value of high-resolution ultrasound in the differential diagnosis of scaphocephaly and occipital plagiocephaly
    Michael Krimmel, B. E. Will, Markus Wolff, Susanne Kluba, Karin Haas‐Lude, Juergen F. Schaefer, Martin U. Schuhmann, Siegmar Reinert · 2012 · International Journal of Oral and Maxillofacial Surgery
28. Mercedes Benz Pattern Craniosynostosis
    Jennifer L. Rhodes, John C. Kolar, Jeffrey A. Fearon · 2009 · Plastic & Reconstructive Surgery
29. De novo partial duplications 1p: Report of two new cases and review
    Jaime Garcia‐Heras, Norlela Corley, Mary F. Garcia, Mary K. Kukolich, Kim Smith, Donald W. Day · 1999 · American Journal of Medical Genetics
30. Genetic and Epigenetic Influences of Twins on the Pathogenesis of Craniosynostosis
    Gregory E. Lakin, Jeremy C. Sinkin, Rui Chen, Peter F. Koltz, John A. Girotto · 2012 · Plastic & Reconstructive Surgery
31. Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis
    Ye, Xiaoqian, Guilmatre, Audrey, Reva, Boris, Peter, Inga, Heuzé, Yann, Richtsmeier, Joan T., Fox, Deborah J., Goedken, Rhinda J., Jabs, Ethylin Wang, Romitti, Paul A. · 2016 · Plastic and Reconstructive Surgery
32. The Misdiagnosis of Craniosynostosis as Deformational Plagiocephaly
    Yuan Liu, Natacha Kadlub, Renato da Silva Freitas, John A. Persing, Charles C. Duncan, Joseph H. Shin · 2008 · Journal of Craniofacial Surgery
33. Ex Vivo Noggin Gene Therapy Inhibits Bone Formation in a Mouse Model of Postoperative Resynostosis
    Gregory M. Cooper, Arvydas Ūsas, Anne Olshanski, Mark P. Mooney, Joseph E. Losee, Johnny Huard · 2009 · Plastic & Reconstructive Surgery
34. Bilateral lambdoid and sagittal synostosis (BLSS): A unique craniosynostosis syndrome or predictable craniofacial phenotype?
    Anne V Hing, Eleanor S. Click, Ursula Holder, Marianne L. Seto, Kyle Vessey, Joseph S. Gruss, Richard A. Hopper, Michael L. Cunningham · 2009 · American Journal of Medical Genetics Part A
35. An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses
    Fernanda Sarquis Jehee, Débora Romeo Bertola, Krishna K. Yelavarthi, Ana Cristina Victorino Krepischi, Chong Ae Kim, Angela Maria Vianna‐Morgante, Joris Robert Vermeesch, Maria Rita Passos‐Bueno · 2007 · American Journal of Medical Genetics Part A
36. Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity
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37. Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis
    Ariana Kariminejad, Roxana Kariminejad, Andreas Tzschach, Reinhard Ullmann, Alisho Ahmed, Alaleh Asghari-Roodsari, Shadab Salehpour, Fariba Afroozan, Hans‐Hilger Ropers, Mohammad Hasan Kariminejad · 2009 · American Journal of Medical Genetics Part A
38. Erk1/2 signaling is required for Tgf‐β2–induced suture closure
    Lynne A. Opperman, Claudia R. Fernandez, Sarah So, Joseph T. Rawlins · 2005 · Developmental Dynamics
39. MENTAL DEVELOPMENT IN INFANTS WITH NONSYNDROMIC CRANIOSYNOSTOSIS WITH AND WITHOUT CRANIAL RELEASE AND RECONSTRUCTION
    Kathleen A. Kapp‐Simon · 1994 · Plastic & Reconstructive Surgery
40. Risk Factors Associated with Craniosynostosis: A Case Control Study
    Maryam Ardalan, Ali Rafati, Farideh Nejat, Behnood Farazmand, Masood Majed, Mostafa El Khashab · 2012 · Pediatric Neurosurgery
41. Second family with the boston‐type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum
    Alexander Janßen, Mohammad Jakir Hosen, Philippe Jeannin, Paul J. Coucke, Anne De Paepe, Olivier M. Vanakker · 2013 · American Journal of Medical Genetics Part A
42. Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis
    Jounghyen Park, Ok‐Jin Park, Won‐Joon Yoon, Hyunjung Kim, Kang‐Young Choi, Tae‐Joon Cho, Hyun‐Mo Ryoo · 2011 · Journal of Cellular Biochemistry
43. Rickets and Secondary Craniosynostosis Associated With Long-term Antacid Use in an Infant
    Avinash K. Shetty, Tal Thomas, Jayashree Rao, Alfonso Vargas · 1998 · Archives of Pediatrics and Adolescent Medicine
44. Abnormal skull shape
    Susan Blasér · 2008 · Pediatric Radiology
45. A de novo interstitial deletion of chromosome 6 (q22.2q23.1)
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46. Familial Lambdoid Craniosynostosis Between Father and Son
    Natacha Kadlub, John A. Persing, Renato da Silva Freitas, Joseph H. Shin · 2008 · Journal of Craniofacial Surgery
47. Biallelic mutations in CYP26B1 : A differential diagnosis for Pfeiffer and Antley–Bixler syndromes
    Jenny E.V. Morton, Sophia Frentz, Tim Morgan, Andrew J. Sutherland‐Smith, Stephen P. Robertson · 2016 · American Journal of Medical Genetics Part A
48. Patient with terminal 9 Mb deletion of chromosome 9p: Refining the critical region for 9p monosomy syndrome with trigonocephaly
    Norimasa Mitsui, Kenji Shimizu, Hiroshi Nishimoto, Hiroshi Mochizuki, Masao Iida, Hirofumi Ohashi · 2012 · Congenital Anomalies
49. Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis
    Lucia Grillo, Donatella Greco, Rosa Pettinato, Emanuela Avola, Nabor Potenza, Lucia Castiglia, Angela Spalletta, Silvestra Amata, Daniela Di Benedetto, Daniela Luciano et al. · 2013 · Gene
50. Activation of the IGF1 pathway mediates changes in cellular contractility and motility in single-suture craniosynostosis
    Zeinab Al‐Rekabi, Marsha M. Wheeler, Andrea Leonard, Adriane M. Fura, Ilsa Juhlin, Christopher Frazar, Joshua D. Smith, Sarah S. Park, Jennifer A. Gustafson, Christine M. Clarke et al. · 2015 · Journal of Cell Science
51. A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature
    Ebru Aypar, Mahmut Selman Yıldırım, Ahmet Sert, İlhan Çiftçi, Dursun Odabaş · 2011 · American Journal of Medical Genetics Part A
52. Antley-Bixler syndrome with radioulnar synostosis
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53. Telomere‐telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosome 7p11.2→p15.1: phenotypic consequences and possible mechanisms
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54. Osteogenic and Neurogenic Stem Cells in Their Own Place: Unraveling Differences and Similarities Between Niches
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55. RUNX2 Quadruplication
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56. Effects of recombinant human bone morphogenetic protein-2 on midsagittal sutural bone formation during expansion
    Sean Shih-Yao Liu, Lynne A. Opperman, Peter H. Buschang · 2009 · American Journal of Orthodontics and Dentofacial Orthopedics
57. Craniosynostosis and chromosome 22q11 deletion.
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58. Severe Developmental Delay in a Patient with 7p21.1–p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster
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59. Interleukin-11 Acts Synergistically with Bone Morphogenetic Protein-2 to Accelerate Bone Formation in a Rat Ectopic Model
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60. A hypomorphic allele reveals an important role of inturned in mouse skeletal development
    Chang, Rachel, Petersen, Juliette R., Niswander, Lee A., Liu, Aimin · 2015 · Developmental Dynamics
61. Pitfalls for the Pediatrician: Positional Molding or Craniosynostosis?
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62. Current approaches to management of nonsyndromic craniosynostosis
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63. Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability
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65. Transcriptome correlation analysis identifies two unique craniosynostosis subtypes associated with IRS1 activation
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66. Craniofacial dyssynostosis: Description of the first four Spanish cases and review
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67. A secondary craniosynostosis associated with juvenile hyperthyroidism
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68. Clinical and genetic characteristics of craniosynostosis in Hungary
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70. Benchmarking for Craniosynostosis
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71. A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP)
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72. Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome
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73. Association of mutations in FLNA with craniosynostosis
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74. TCF12 microdeletion in a 72‐year‐old woman with intellectual disability
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75. Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy
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76. New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome
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77. Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement
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78. Molecular Genetic Analysis of TWIST1 and FGFR3 Genes in Korean Patients with Coronal Synostosis
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80. Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome
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81. Lumps, bumps and funny shaped heads
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82. Severe craniosynostosis in an infant with deletion 22q11.2 syndrome
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83. Absence of the sagittal suture does not result in scaphocephaly
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84. Combined Metopic and Unilateral Coronal Synostoses
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