Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1121) 1121
Publication (85) 85
Conference Proceeding (9) 9
Book / eBook (8) 8
Newsletter (8) 8
Book Chapter (7) 7
Book Review (4) 4
Data Set (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (970) 970
craniosynostoses - pathology (630) 630
male (570) 570
female (558) 558
craniosynostosis (491) 491
infant (481) 481
surgery (474) 474
index medicus (395) 395
craniosynostoses - surgery (323) 323
child, preschool (293) 293
craniosynostoses - genetics (285) 285
child (250) 250
animals (205) 205
clinical neurology (192) 192
infant, newborn (183) 183
skull - pathology (182) 182
pediatrics (178) 178
genetics & heredity (176) 176
syndrome (174) 174
craniosynostoses - diagnostic imaging (172) 172
cranial sutures - pathology (162) 162
tomography, x-ray computed (159) 159
craniosynostoses (152) 152
craniosynostoses - diagnosis (150) 150
craniosynostoses - complications (124) 124
adult (122) 122
retrospective studies (118) 118
dentistry (115) 115
mutation (113) 113
adolescent (110) 110
phenotype (109) 109
cephalometry (106) 106
children (104) 104
dentistry, oral surgery & medicine (103) 103
research (102) 102
follow-up studies (99) 99
skull (96) 96
synostosis (94) 94
skull - abnormalities (93) 93
craniosynostoses - physiopathology (89) 89
mice (87) 87
growth (86) 86
skull - diagnostic imaging (85) 85
diagnosis (84) 84
abnormalities, multiple - pathology (79) 79
magnetic resonance imaging (79) 79
treatment outcome (76) 76
cranial sutures - surgery (74) 74
radiography (69) 69
skull - surgery (67) 67
rabbits (66) 66
abnormalities, multiple - genetics (64) 64
gene (62) 62
disease models, animal (61) 61
mutations (61) 61
neurosurgery (61) 61
care and treatment (60) 60
genetic aspects (60) 60
frontal bone - pathology (59) 59
management (59) 59
medicine & public health (59) 59
neurosciences (59) 59
cephalometry - methods (58) 58
cranial sutures - abnormalities (58) 58
craniosynostoses - etiology (58) 58
article (56) 56
skull - growth & development (56) 56
crouzon-syndrome (54) 54
receptors, fibroblast growth factor - genetics (54) 54
analysis (53) 53
risk factors (53) 53
sagittal synostosis (53) 53
reconstructive surgical procedures - methods (52) 52
brain - pathology (51) 51
cranial sutures (51) 51
frontal bone - surgery (50) 50
imaging, three-dimensional (49) 49
pregnancy (49) 49
case-control studies (47) 47
craniosynostoses - metabolism (47) 47
craniotomy - methods (47) 47
diagnosis, differential (46) 46
medicine (46) 46
occipital bone - pathology (46) 46
plagiocephaly (45) 45
cranial sutures - diagnostic imaging (44) 44
suture (44) 44
acrocephalosyndactylia - pathology (43) 43
hydrocephalus (43) 43
health aspects (42) 42
acrocephalosyndactylia - genetics (40) 40
pedigree (40) 40
age factors (39) 39
brain (39) 39
craniosynostoses - classification (39) 39
frontal bone - abnormalities (39) 39
parietal bone - abnormalities (39) 39
cranial sutures - growth & development (38) 38
craniosynostoses - therapy (38) 38
tomography, x-ray computed - methods (38) 38
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1086) 1086
French (20) 20
German (10) 10
Italian (5) 5
Spanish (5) 5
Japanese (3) 3
Russian (3) 3
Czech (1) 1
Dutch (1) 1
Finnish (1) 1
Hungarian (1) 1
Polish (1) 1
Portuguese (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. 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
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 915 - 925
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and... 
VAN-CREVELD-SYNDROME | DYNC2H1 MUTATIONS | GENE | DISEASE | GENETICS & HEREDITY | CILIOPATHY | RIB-POLYDACTYLY SYNDROME | CILIA | KIDNEY | ASPHYXIATING THORACIC DYSTROPHY | INTRAFLAGELLAR TRANSPORT PROTEIN | 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 | Index Medicus | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
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, England), ISSN 0950-1991, 10/2018, Volume 145, Issue 19, p. dev166488
Midface dysgenesis is a feature ofmore than 200 genetic conditions in which upper airway anomalies frequently cause respiratory distress, but its etiology is... 
Fibroblast growth factor | Apert syndrome | Nasal cartilage | Mouse | Midface dysgenesis | Crouzon syndrome | Suture | OBSTRUCTIVE SLEEP-APNEA | FGFR2 MUTATIONS | DEVELOPMENTAL BIOLOGY | STRUCTURAL BASIS | APERT-SYNDROME | MOUSE MODEL | GROWTH | MISSENSE MUTATION | SYNDROMIC CRANIOSYNOSTOSIS | RECEPTOR-2 | EXPRESSION | 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. 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
Premature closure and subsequent ossification of the metopic suture results in triangular head shape called trigonocephaly and is characterized by a midline... 
Pathology | Neurosciences | Medicine & Public Health | Craniosynostosis | Neurosurgery | Metopic suture | Trigonocephaly | SURGERY | PHENOTYPE | SKULL | CLINICAL NEUROLOGY | DELETION | REGION | MOUSE CORONAL SUTURE | CHONDROID TISSUE | GROWTH | CALVARIAL BONE | PEDIATRICS | CRANIAL SUTURES | Humans | Craniosynostoses - pathology | Cranial Sutures - pathology | Craniosynostoses | Care and treatment | Genetic disorders | Development and progression | Genetic aspects | Research | Risk factors | Congenital defects
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. 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 & Maxillofacial Surgery, ISSN 0901-5027, 2011, Volume 40, Issue 8, pp. 805 - 809
Abstract There are few studies on maxillomandibular skeletal alterations. Twenty-one patients with unilateral coronal craniosynostosis were analysed and... 
Surgery | synostotic | asymmetry | plagiocephaly | coronal suture | SURGERY | DYSMORPHOLOGY | RARE CAUSE | DENTISTRY, ORAL SURGERY & MEDICINE | CLASSIFICATION | SKULL | SYNOSTOSIS | 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
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
Dural cerebral veins (CV) are required for cerebrospinal fluid reabsorption and brain homeostasis, but mechanisms that regulate their growth and remodeling are... 
BMP4 | cerebral veins | venous angiogenesis | BMP2 | craniosynostosis | coronal suture | ICP | osteoblast | skull | Twist1 | 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 | ARTERIES | CRANIAL VENOUS SYSTEM | ANGIOGENESIS | GROWTH | COMPONENTS | PHENOTYPE | DEVELOPMENTAL BIOLOGY | HYPERTENSION | TRANSCRIPTIONAL REGULATION | CRANIOSYNOSTOSIS | RAISED INTRACRANIAL-PRESSURE | CELL BIOLOGY | Bone morphogenetic proteins | Analysis | Developmental biology
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. ZIC1 function in normal cerebellar development and human developmental pathology
by Aruga, Jun and Millen, Kathleen J
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2018, Volume 1046, pp. 249 - 268
Zic genes are strongly expressed in the cerebellum. This feature leads to their initial identification and their name "zic," as the abbreviation of "zinc... 
Cerebellum | Dandy-Walker malformation | Craniosynostosis | ZIC1 | Neural development | MEDICINE, RESEARCH & EXPERIMENTAL | PROGENITORS | DEVELOPMENTAL BIOLOGY | DELETION | CELL LINEAGE | MOUSE ZIC1 | EVOLUTIONARY BIOLOGY | GENE | GENETICS & HEREDITY | ZINC-FINGER PROTEIN | DIFFERENTIATION | TRANSCRIPTION FACTOR | EXPRESSION | Dandy-Walker Syndrome - metabolism | Craniosynostoses - genetics | Humans | Dandy-Walker Syndrome - genetics | Signal Transduction - genetics | Transcription Factors - genetics | Cerebellum - physiology | Nerve Tissue Proteins - genetics | Neural Stem Cells - pathology | Dandy-Walker Syndrome - pathology | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Animals | Cerebellum - growth & development | Mice | Neural Stem Cells - metabolism | Craniosynostoses - pathology | Craniosynostoses - metabolism
Journal Article
Details down arrow
7. Full Text Use of morphometric mapping to characterise symptomatic chiari-like malformation, secondary syringomyelia and associated brachycephaly in the cavalier king charles spaniel
by Knowler, Susan P and Cross, Chloe and Griffiths, Sandra and McFadyen, Angus K and Jovanovik, Jelena and Tauro, Anna and Kibar, Zoha and Driver, Colin J and Ragione, Roberto M. La and Rusbridge, Clare
PLoS ONE, ISSN 1932-6203, 01/2017, Volume 12, Issue 1, p. e0170315
Objectives To characterise the symptomatic phenotype of Chiari-like malformation (CM), secondary syringomyelia (SM) and brachycephaly in the Cavalier King... 
CAUDAL CRANIAL FOSSA | VOLUMES | CRANIOCERVICAL JUNCTION | SIGNS | MULTIDISCIPLINARY SCIENCES | DOGS | CLOSURE | ANGLE | CEREBROSPINAL-FLUID | MORPHOLOGY | FEATURES | Olfactory Bulb - diagnostic imaging | Brain - diagnostic imaging | Skull Base - diagnostic imaging | Arnold-Chiari Malformation - complications | Male | Cephalometry | Foramen Magnum - diagnostic imaging | Dog Diseases - pathology | Arnold-Chiari Malformation - veterinary | Skull - pathology | Syringomyelia - diagnostic imaging | Female | Retrospective Studies | Dog Diseases - diagnostic imaging | Genetic Predisposition to Disease | Reproducibility of Results | Syringomyelia - veterinary | Olfactory Bulb - pathology | Cervical Vertebrae - diagnostic imaging | Breeding | Syringomyelia - etiology | Craniosynostoses - genetics | Dog Diseases - genetics | Foramen Magnum - pathology | Skull Base - pathology | Craniosynostoses - veterinary | Discriminant Analysis | Magnetic Resonance Imaging | Craniosynostoses - diagnostic imaging | Phenotype | Animals | Arnold-Chiari Malformation - genetics | Cervical Vertebrae - pathology | Skull - diagnostic imaging | Syringomyelia - genetics | Dogs | Brain - pathology | Arnold-Chiari Malformation - diagnostic imaging | Rhombencephalon - diagnostic imaging | Observer Variation | Rhombencephalon - pathology | Syringomyelia | Research | Magnetic resonance imaging | Spaniels | Health aspects | Analysis | Brain | Veterinary colleges | Spinal cord | Dens | Fluid flow | Forebrain | Parenchyma | Mapping | Genomes | Cerebrospinal fluid | Veterinary medicine | Ultrasonic imaging | Pain | Bones | Quantitative analysis | Fluid dynamics | Abnormalities | Brain mapping | Breeding of animals | Flattening | Morphology | Diagnostic software | Olfactory bulb | Hindbrain | Diagnostic systems | Conformation
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. 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 & Maxillofacial Surgery, ISSN 0901-5027, 2011, Volume 41, Issue 1, pp. 20 - 27
Abstract The objectives of this study were to investigate the treatment effect and stability of fronto-facial monobloc distraction osteogenesis. Five... 
Surgery | syndromic craniosynostosis | cephalometry | monobloc | computerized tomography | distraction osteogenesis | SURGERY | LE-FORT-III | ADVANCEMENT | OSTEOGENESIS | CRANIOFACIAL SYNOSTOSIS | MORBIDITY | MIDFACE | OSTEOTOMIES | DENTISTRY, ORAL SURGERY & MEDICINE | PEDIATRIC-PATIENTS | DEVICES | CROUZON-SYNDROME | 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. 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
RECQ DNA helicases play critical roles in maintaining genomic stability, but their role in development has been less well studied. Rothmund-Thomson syndrome,... 
RECQL4 | Rothmund–Thomson syndrome | genetic animal models | skeletal development | cartilage | Rothmund-Thomson syndrome | HELICASES | ABNORMALITIES | DAMAGE-INDUCED PHOSPHORYLATION | DNA-DAMAGE | CRE RECOMBINASE | GENE | MOUSE MODEL | ENDOCRINOLOGY & METABOLISM | ROTHMUND-THOMSON-SYNDROME | MUTATIONS | EXPRESSION | 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
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text Pivotal role of Twist in skeletal biology and pathology
by Miraoui, Hichem and Marie, Pierre J
Gene, ISSN 0378-1119, 2010, Volume 468, Issue 1, pp. 1 - 7
Basic Helix–loop–Helix (bHLH) factors play important roles in development and disease. Recent functional and genetic analyses revealed that the bHLH factor... 
Mesenchymal cells | Adipocyte | Bone formation | Osteoblasts | Twist1 | OSTEOBLAST DIFFERENTIATION | SAETHRE-CHOTZEN-SYNDROME | MOUSE CORONAL SUTURE | LOOP-HELIX PROTEINS | BHLH PROTEIN | GENETICS & HEREDITY | GROWTH-FACTOR RECEPTOR-2 | CHONDROCYTE PROLIFERATION | CELL-DIFFERENTIATION | TRANSCRIPTION FACTOR | CRANIAL SUTURES | Animals | Humans | Muscle, Skeletal - metabolism | Cell Differentiation | Muscle, Skeletal - pathology | Osteoblasts - cytology | Osteoblasts - metabolism | Twist-Related Protein 1 - metabolism | Craniosynostoses - pathology | Physiological aspects | Cell research | Growth factors | Stem cells | Adipocytes
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Early onset of Runx2 expression caused craniosynostosis, ectopic bone formation, and limb defects
by Maeno, Takafumi and Moriishi, Takeshi and Yoshida, Carolina Andrea and Komori, Hisato and Kanatani, Naoko and Izumi, Shin-ichi and Takaoka, Kunio and Komori, Toshihisa
Bone, ISSN 8756-3282, 2011, Volume 49, Issue 4, pp. 673 - 682
Abstract RUNX2 is an essential transcription factor for osteoblast differentiation, because osteoblast differentiation is completely blocked in Runx2... 
Orthopedics | Bone formation | Chondrocyte differentiation | Prrx1 promoter | Runx2 | Osteoblast differentiation | OSTERIX EXPRESSION | MOUSE | CBFA1-DEFICIENT MICE | ENDOCRINOLOGY & METABOLISM | GENE-EXPRESSION | CBFA1 | SOX9 | CELL-LINE | TRANSGENIC MICE | Bone and Bones - pathology | Limb Buds - pathology | Limb Buds - diagnostic imaging | Cartilage - pathology | Choristoma - diagnostic imaging | Craniosynostoses - complications | Homeodomain Proteins - metabolism | Fluorescence | Core Binding Factor Alpha 1 Subunit - metabolism | X-Ray Microtomography | Limb Buds - abnormalities | Skull - pathology | Bone and Bones - diagnostic imaging | Bone and Bones - metabolism | Choristoma - complications | Cell Differentiation | Face | Chondrocytes - metabolism | Chondrocytes - pathology | Green Fluorescent Proteins - metabolism | Mice, Transgenic | Cartilage - metabolism | Choristoma - embryology | Skull - embryology | Osteoblasts - pathology | Craniosynostoses - diagnostic imaging | Animals | Limb Buds - metabolism | Craniosynostoses - embryology | Skull - diagnostic imaging | Mice | Choristoma - pathology | Bone and Bones - embryology | Osteoblasts - metabolism | Craniosynostoses - pathology | Osteogenesis | Gene expression | Stem cells
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Molecular pathology of Shprintzen–Goldberg syndrome
by Kosaki, Kenjiro and Takahashi, Daisuke and Udaka, Toru and Kosaki, Rika and Matsumoto, Morio and Ibe, Shigeharu and Isobe, Takeshi and Tanaka, Yoko and Takahashi, Takao
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2006, Volume 140A, Issue 1, pp. 104 - 108
FIBRILLIN-1 | MUTATIONS | CLINICAL ANALYSIS | GENETICS & HEREDITY | Abnormalities, Multiple - pathology | Receptors, Transforming Growth Factor beta - genetics | Alternative Splicing - genetics | Humans | Protein-Serine-Threonine Kinases | Heart Defects, Congenital - pathology | Child, Preschool | Fibrillins | Male | Mutation, Missense | Syndrome | DNA Mutational Analysis | Craniofacial Abnormalities - pathology | Marfan Syndrome - pathology | Mutation | Fingers - abnormalities | Child | Microfilament Proteins - genetics | Abnormalities, Multiple - genetics | Craniosynostoses - pathology
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights