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1. Full Text Craniosynostosis: A Reversible Pathology?
by Saljo, Karin and Maltese, Giovanni and Tarnow, Peter and Kolby, Lars and Institutionen för kliniska vetenskaper, Avdelningen för plastikkirurgi and Sahlgrenska akademin and Institute of Clinical Sciences, Department of Plastic Surgery and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy
The Journal of craniofacial surgery, ISSN 1049-2275, 09/2019, Volume 30, Issue 6, pp. 1628 - 1630
Life Sciences & Biomedicine | Surgery | Science & Technology | Neurosurgical Procedures | Craniosynostoses - diagnostic imaging | Skull - surgery | Osteotomy | Humans | Craniosynostoses - surgery | Sutures | Retrospective Studies | Cranial Sutures - surgery | Craniosynostoses | Care and treatment | Usage | Infants | Orthopedic surgery | Health aspects | Dentistry | Kirurgi
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2. Full Text Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects
by Holmes, Greg and O'Rourke, Courtney and Motch Perrine, Susan M and Lu, Na and van Bakel, Harm and Richtsmeier, Joan T and Jabs, Ethylin Wang
Development (Cambridge), ISSN 0950-1991, 10/2018, Volume 145, Issue 19, p. dev166488
Fibroblast growth factor | Apert syndrome | Nasal cartilage | Mouse | Midface dysgenesis | Crouzon syndrome | Suture | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Nose - embryology | Nose - abnormalities | Cell Proliferation | Receptor, Fibroblast Growth Factor, Type 2 - metabolism | Cartilage - pathology | Face - abnormalities | Cranial Sutures - pathology | Acrocephalosyndactylia - pathology | Gene Expression Regulation, Developmental | Mice, Mutant Strains | Disease Models, Animal | Chondrocytes - pathology | Craniofacial Dysostosis - pathology | Embryo, Mammalian - pathology | Craniofacial Dysostosis - embryology | Nose - pathology | Face - pathology | Mice, Inbred C57BL | Respiratory System Abnormalities - pathology | Organ Specificity | Embryo, Mammalian - abnormalities | Animals | Cell Cycle | Craniosynostoses - embryology | Face - embryology | Respiratory System Abnormalities - embryology | Craniosynostoses - pathology | Receptor, Fibroblast Growth Factor, Type 2 - genetics | Index Medicus
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3. Full Text Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
by Halbritter, Jan and Bizet, Albane A and Schmidts, Miriam and Porath, Jonathan D and Braun, Daniela A and Gee, Heon Yung and McInerney-Leo, Aideen M and Krug, Pauline and Filhol, Emilie and Davis, Erica E and Airik, Rannar and Czarnecki, Peter G and Lehman, Anna M and Trnka, Peter and Nitschké, Patrick and Bole-Feysot, Christine and Schueler, Markus and Knebelmann, Bertrand and Burtey, Stéphane and Szabó, Attila J and Tory, Kálmán and Leo, Paul J and Gardiner, Brooke and McKenzie, Fiona A and Zankl, Andreas and Brown, Matthew A and Hartley, Jane L and Maher, Eamonn R and Li, Chunmei and Leroux, Michel R and Scambler, Peter J and Zhan, Shing H and Jones, Steven J and Kayserili, Hülya and Tuysuz, Beyhan and Moorani, Khemchand N and Constantinescu, Alexandru and Krantz, Ian D and Kaplan, Bernard S and Shah, Jagesh V and Hurd, Toby W and Doherty, Dan and Katsanis, Nicholas and Duncan, Emma L and Otto, Edgar A and Beales, Philip L and Mitchison, Hannah M and Saunier, Sophie and Hildebrandt, Friedhelm and UK10K Consortium
American journal of human genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 915 - 925
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Bone and Bones - pathology | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Male | Intracellular Signaling Peptides and Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Ellis-Van Creveld Syndrome - pathology | Gene Knockdown Techniques | Bone and Bones - metabolism | Kidney Diseases, Cystic - genetics | Ectodermal Dysplasia - pathology | Female | Intracellular Signaling Peptides and Proteins - genetics | Cytoplasmic Dyneins - metabolism | Dyneins - metabolism | Amino Acid Sequence | European Continental Ancestry Group - genetics | Craniosynostoses - genetics | Cytoplasmic Dyneins - genetics | Retinitis Pigmentosa - genetics | Cerebellar Ataxia - pathology | Fibroblasts - pathology | Zebrafish - genetics | Kidney Diseases, Cystic - pathology | Phenotype | Animals | Cerebellar Ataxia - genetics | Epistasis, Genetic | Alleles | Ectodermal Dysplasia - genetics | Dyneins - genetics | Mutation | Bone and Bones - abnormalities | Retinitis Pigmentosa - pathology | Craniosynostoses - pathology | Physiological aspects | Ciliata | Genetic aspects | Research | Gene expression | Biological transport, Active | Proteins | Genotype & phenotype | Zebrafish | Index Medicus | Report
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4. Full Text Pathology in metopic synostosis
by Karabagli, Pinar
Child's nervous system, ISSN 0256-7040, 12/2013, Volume 29, Issue 12, pp. 2165 - 2170
Pathology | Neurosciences | Medicine & Public Health | Craniosynostosis | Neurosurgery | Metopic suture | Trigonocephaly | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Surgery | Science & Technology | Humans | Craniosynostoses - pathology | Cranial Sutures - pathology | Craniosynostoses | Care and treatment | Genetic disorders | Development and progression | Genetic aspects | Research | Risk factors | Index Medicus | Congenital defects
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5. Full Text Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura
by Tischfield, Max A and Robson, Caroline D and Gilette, Nicole M and Chim, Shek Man and Sofela, Folasade A and DeLisle, Michelle M and Gelber, Alon and Barry, Brenda J and MacKinnon, Sarah and Dagi, Linda R and Nathans, Jeremy and Engle, Elizabeth C
Developmental cell, ISSN 1534-5807, 09/2017, Volume 42, Issue 5, pp. 445 - 461.e5
BMP4 | cerebral veins | venous angiogenesis | BMP2 | craniosynostosis | coronal suture | ICP | osteoblast | skull | Twist1 | Life Sciences & Biomedicine | Developmental Biology | Science & Technology | Cell Biology | Cerebral Veins - metabolism | Transverse Sinuses - pathology | Humans | Neural Crest - pathology | Cerebral Arteries - growth & development | Stem Cells - metabolism | Osteoblasts | Cranial Sutures - pathology | Bone Morphogenetic Proteins - metabolism | Mice, Mutant Strains | Skull - pathology | Female | Cell Differentiation | Paracrine Communication | Signal Transduction | Craniosynostoses - genetics | Dura Mater - pathology | Nuclear Proteins - metabolism | Mutation - genetics | Animals | Cerebral Arteries - pathology | Mesoderm - metabolism | Mice | Cerebral Veins - abnormalities | Cerebral Veins - pathology | Twist-Related Protein 1 - metabolism | Craniosynostoses - pathology | Bone morphogenetic proteins | Analysis | Developmental biology | Index Medicus
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6. Full Text Occlusal alterations in unilateral coronal craniosynostosis
by Pelo, S and Marianetti, T.M and Cacucci, L and Di Nardo, F and Borrelli, A and Di Rocco, C and Tamburrini, G and Moro, A and Gasparini, G and Deli, R
International journal of oral and maxillofacial surgery, ISSN 0901-5027, 2011, Volume 40, Issue 8, pp. 805 - 809
Surgery | synostotic | asymmetry | plagiocephaly | coronal suture | Life Sciences & Biomedicine | Dentistry, Oral Surgery & Medicine | Science & Technology | Biological and medical sciences | Medical sciences | Otorhinolaryngology. Stomatology | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Facial Asymmetry - pathology | Malocclusion, Angle Class II - diagnosis | Cephalometry - methods | Craniosynostoses - complications | Humans | Mandible - pathology | Incisor - pathology | Zygoma - pathology | Temporomandibular Joint - pathology | Malocclusion, Angle Class II - pathology | Molar - pathology | Sella Turcica - pathology | Maxilla - pathology | Child | Malocclusion - classification | Malocclusion - diagnosis | Plagiocephaly - pathology | Parietal Bone - abnormalities | Nasal Bone - pathology | Plagiocephaly - complications | Temporal Bone - pathology | Facial Asymmetry - diagnosis | Malocclusion - pathology | Frontal Bone - abnormalities | Craniosynostoses - pathology | Index Medicus | Dentistry
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7. Full Text Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse
by Lee, Kevin K L and Lee, Kevin K. L and Peskett, Emma and Quinn, Charlotte M and Aiello, Rosanna and Adeeva, Liliya and Moulding, Dale A and Stanier, Philip and Stanier, Philip and Pauws, Erwin and Pauws, Erwin
Disease models & mechanisms, ISSN 1754-8403, 11/2018, Volume 11, Issue 11, p. dmm035311
Crouzon | Cleft palate | FGF | Craniosynostosis | FGFR2 | ERK | Pathology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Bone and Bones - pathology | Cell Proliferation | Receptor, Fibroblast Growth Factor, Type 2 - metabolism | Humans | Neural Crest - pathology | Alkaline Phosphatase - metabolism | Congenital Microtia - genetics | Cranial Sutures - pathology | MAP Kinase Signaling System | Neural Crest - metabolism | Skull - pathology | HEK293 Cells | Congenital Microtia - pathology | Craniofacial Dysostosis - pathology | Craniosynostoses - genetics | Mutation - genetics | Craniofacial Dysostosis - genetics | Phenotype | Animals | Cleft Palate - pathology | Alleles | Mice | Bone and Bones - abnormalities | Craniosynostoses - pathology | Receptor, Fibroblast Growth Factor, Type 2 - genetics | Index Medicus
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8. Full Text RECQL4 Regulates p53 Function In Vivo During Skeletogenesis
by Lu, Linchao and Harutyunyan, Karine and Jin, Weidong and Wu, Jianhong and Yang, Tao and Chen, Yuqing and Joeng, Kyu Sang and Bae, Yangjin and Tao, Jianning and Dawson, Brian C and Jiang, Ming‐Ming and Lee, Brendan and Wang, Lisa L
Journal of bone and mineral research, ISSN 0884-0431, 06/2015, Volume 30, Issue 6, pp. 1077 - 1089
RECQL4 | Rothmund–Thomson syndrome | genetic animal models | skeletal development | cartilage | Rothmund-Thomson syndrome | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Limb Deformities, Congenital - genetics | Radius - pathology | RecQ Helicases - metabolism | Humans | RecQ Helicases - genetics | Anal Canal - metabolism | Tumor Suppressor Protein p53 - genetics | Dwarfism - metabolism | Patella - abnormalities | Heart Septal Defects, Atrial - metabolism | Heart Septal Defects, Atrial - genetics | Dwarfism - pathology | Radius - metabolism | Anal Canal - pathology | Craniosynostoses - metabolism | Craniosynostoses - genetics | Tumor Suppressor Protein p53 - metabolism | Limb Deformities, Congenital - metabolism | Mice, Transgenic | Radius - abnormalities | Bone Development | Rothmund-Thomson Syndrome - metabolism | Patella - pathology | Anal Canal - abnormalities | Rothmund-Thomson Syndrome - genetics | Dwarfism - genetics | Animals | Patella - metabolism | Mice | Mutation | Rothmund-Thomson Syndrome - pathology | Craniosynostoses - pathology | Heart Septal Defects, Atrial - pathology | Limb Deformities, Congenital - pathology | Tumor proteins | Leukemia | Index Medicus
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9. Full Text Follow-up study to investigate symmetry and stability of cranioplasty in craniosynostosis – Introduction of new pathology-specific parameters and a comparison to the norm population
by Klausing, Anne and Röhrig, Andreas and Lüchters, Guido and Vogler, Helen and Martini, Markus
Journal of cranio-maxillo-facial surgery, ISSN 1010-5182, 09/2019, Volume 47, Issue 9, pp. 1441 - 1448
Cranioplasty | Norm population | 3D scan | Morphometry | Frontoorbital advancement | Trigonocephaly | Life Sciences & Biomedicine | Dentistry, Oral Surgery & Medicine | Surgery | Science & Technology | Esthetics, Dental | Craniosynostoses | Prospective Studies | Follow-Up Studies | Humans | Child, Preschool | Infant | Treatment Outcome | Germany | Index Medicus | Dentistry
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10. Full Text Fronto-facial monobloc distraction in syndromic craniosynostosis. Three-dimensional evaluation of treatment outcome and facial growth
by Ko, E.W.-C and Chen, P.K.-T and Tai, I.C.-H and Huang, C.S
International journal of oral and maxillofacial surgery, ISSN 0901-5027, 2011, Volume 41, Issue 1, pp. 20 - 27
Surgery | syndromic craniosynostosis | cephalometry | monobloc | computerized tomography | distraction osteogenesis | Life Sciences & Biomedicine | Dentistry, Oral Surgery & Medicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Vertebrates: osteoarticular system, musculoskeletal system | Otorhinolaryngology. Stomatology | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Biological and medical sciences | Medical sciences | Skeleton and joints | Eye - pathology | Frontal Bone - surgery | Follow-Up Studies | Cephalometry - methods | Humans | Imaging, Three-Dimensional - methods | Zygoma - surgery | Child, Preschool | Tomography, X-Ray Computed - methods | Acrocephalosyndactylia - surgery | Male | Orbit - surgery | Bone Remodeling - physiology | Maxilla - surgery | Zygoma - pathology | Frontal Bone - pathology | Maxillofacial Development - physiology | Pharynx - pathology | Skull - pathology | Facial Bones - surgery | Female | Facial Bones - pathology | Maxilla - pathology | Child | Orbit - pathology | Craniofacial Dysostosis - surgery | Craniosynostoses - surgery | Nasal Bone - pathology | Nasal Septum - pathology | Treatment Outcome | Skull Base - surgery | Skull Base - pathology | Syndrome | Osteogenesis, Distraction - methods | Nasal Septum - surgery | Adolescent | Index Medicus | Dentistry
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