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Wyświetlanie 61-80 z 2276
Tytuł:
Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages.
Autorzy:
Katsuragi SY; Department of Pathology, Seirei Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
Hirose E; Department of Neonatology, Seirei Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
Arai Y; Department of Pathology, Seirei Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
Otsuki Y; Department of Pathology, Seirei Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
Ohki S; Department of Neonatology, Seirei Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.
Kobayashi H; Department of Pathology, Seirei Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan.; Department of Pathology, Tachikawa General Hospital, Nagaoka, Niigata, Japan.
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Źródło:
The American journal of case reports [Am J Case Rep] 2021 Aug 09; Vol. 22, pp. e932450. Date of Electronic Publication: 2021 Aug 09.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Acrocephalosyndactylia*/pathology
Craniosynostoses*
Autopsy ; Bronchi ; Cartilage/pathology ; Child, Preschool ; Female ; Humans ; Hyperplasia/pathology ; Infant, Newborn ; Phenotype ; Pregnancy ; Receptor, Fibroblast Growth Factor, Type 2/genetics ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Similarities and differences between IL11 and IL11RA1 knockout mice for lung fibro-inflammation, fertility and craniosynostosis.
Autorzy:
Ng B; Cardiovascular and Metabolic Disorders Program, Duke-National University of Singapore Medical School, Singapore, Singapore.; National Heart Research Institute Singapore, National Heart Centre Singapore, Singapore, Singapore.
Widjaja AA; Cardiovascular and Metabolic Disorders Program, Duke-National University of Singapore Medical School, Singapore, Singapore.
Viswanathan S; Cardiovascular and Metabolic Disorders Program, Duke-National University of Singapore Medical School, Singapore, Singapore.
Dong J; Cardiovascular and Metabolic Disorders Program, Duke-National University of Singapore Medical School, Singapore, Singapore.
Chothani SP; Cardiovascular and Metabolic Disorders Program, Duke-National University of Singapore Medical School, Singapore, Singapore.
Lim S; Cardiovascular and Metabolic Disorders Program, Duke-National University of Singapore Medical School, Singapore, Singapore.
Shekeran SG; Cardiovascular and Metabolic Disorders Program, Duke-National University of Singapore Medical School, Singapore, Singapore.
Tan J; Cardiovascular and Metabolic Disorders Program, Duke-National University of Singapore Medical School, Singapore, Singapore.; National Heart Research Institute Singapore, National Heart Centre Singapore, Singapore, Singapore.
McGregor NE; Bone Biology and Disease Unit, St. Vincent's Institute of Medical Research, Melbourne, Australia.
Walker EC; Bone Biology and Disease Unit, St. Vincent's Institute of Medical Research, Melbourne, Australia.
Sims NA; Bone Biology and Disease Unit, St. Vincent's Institute of Medical Research, Melbourne, Australia.; Department of Medicine, St. Vincent's Hospital, The University of Melbourne, Melbourne, Australia.
Schafer S; Cardiovascular and Metabolic Disorders Program, Duke-National University of Singapore Medical School, Singapore, Singapore.; National Heart Research Institute Singapore, National Heart Centre Singapore, Singapore, Singapore.
Cook SA; Cardiovascular and Metabolic Disorders Program, Duke-National University of Singapore Medical School, Singapore, Singapore. .; National Heart Research Institute Singapore, National Heart Centre Singapore, Singapore, Singapore. .; MRC-London Institute of Medical Sciences, Hammersmith Hospital Campus, London, UK. .
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Źródło:
Scientific reports [Sci Rep] 2021 Jul 08; Vol. 11 (1), pp. 14088. Date of Electronic Publication: 2021 Jul 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Fertility*
Craniosynostoses/*complications
Inflammation/*complications
Inflammation/*pathology
Interleukin-11/*metabolism
Interleukin-11 Receptor alpha Subunit/*metabolism
Lung/*pathology
Animals ; Bleomycin ; Cell Differentiation ; Craniosynostoses/blood ; Female ; Fibronectins/metabolism ; Humans ; Infertility, Female/blood ; Infertility, Female/pathology ; Inflammation/blood ; Metabolomics ; Mice, Knockout ; Myofibroblasts/pathology ; NF-kappa B/metabolism ; Phosphorylation ; Pulmonary Fibrosis/blood ; Pulmonary Fibrosis/complications ; Pulmonary Fibrosis/pathology ; STAT3 Transcription Factor/metabolism ; Smad2 Protein ; Mice
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Bilateral Lambdoid and Sagittal Craniosynostosis with Hydrocephalus: ETV, Bifrontal Craniotomy, Anterior Cranial Vault Remodeling, and Posterior Cranial Vault Expansion.
Autorzy:
Konar S; Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
Shukla D; Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
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Źródło:
Neurology India [Neurol India] 2021 May-Jun; Vol. 69 (3), pp. 592-594.
Typ publikacji:
Journal Article
MeSH Terms:
Craniosynostoses*/surgery
Hydrocephalus*/surgery
Child ; Craniotomy ; Humans ; Infant ; Skull/surgery ; Ventriculostomy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Investigation of the Effect of Cranial Vault Surgery On Parenchymal Perfusion Before and After Surgery in Craniosynostosis Patients.
Autorzy:
ASLAN, Suleyman Taha
DEMIRCI, Harun
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Alternatywny tytuł:
Kraniyosinostoz Hastalarinda Kubbe Cerrahisinin, Cerrahi Öncesi ve Sonrası Parankimal Perfüzyon Üzerine Etkisinin İncelenmesi.
Źródło:
Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi. Mar2023, Vol. 17 Issue 2, p160-165. 6p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Maternal hyperthyroidism increases the synthesis activity and the osteogenic markers expression of calvarial osteoblasts from offspring in a murine model.
Autorzy:
ARAÚJO, FABIANA ROCHA
BERTASSOLI, BRUNO MACHADO
FÉLIX, ISABELLA CRISTINA SOUZA
ABREU, DOUGLAS MARINHO
OCARINO, NATÁLIA MELO
REIS, AMANDA MARIA SENA
SILVA, JUNEO FREITAS
SERAKIDES, ROGÉRIA
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Źródło:
Biocell. 2023, Vol. 47 Issue 2, p423-430. 8p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
New diagnostic approach of the different types of isolated craniosynostosis.
Autorzy:
Kronig SAJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Centre, Erasmus MC - Sophia Children's Hospital, University Medical Centre Rotterdam, Rotterdam, The Netherlands. .; Department of Plastic and Reconstructive Surgery and Hand Surgery, University Medical Centre Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands. .
Kronig ODM; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Centre, Erasmus MC - Sophia Children's Hospital, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Vrooman HA; Department of Radiology, Erasmus MC, Rotterdam, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Department of Medical Informatics, Erasmus MC, Rotterdam, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Veenland JF; Department of Radiology, Erasmus MC, Rotterdam, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Department of Medical Informatics, Erasmus MC, Rotterdam, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Van Adrichem LNA; Department of Plastic and Reconstructive Surgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
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Źródło:
European journal of pediatrics [Eur J Pediatr] 2021 Apr; Vol. 180 (4), pp. 1211-1217. Date of Electronic Publication: 2020 Nov 05.
Typ publikacji:
Journal Article
MeSH Terms:
Craniosynostoses*/diagnostic imaging
Child ; Humans ; Infant ; Skull/diagnostic imaging ; Tomography, X-Ray Computed
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Vertical transmission of Zika virus and the repercussions on children: the knowledge is not complete.
Autorzy:
Moreira MI; Instituto Fernandes Figueira/Fiocruz, Avenida Rui Barbosa, Rio de Janeiro, 716, Brazil. .
Villela SH; Instituto Fernandes Figueira/Fiocruz, Avenida Rui Barbosa, Rio de Janeiro, 716, Brazil.
Meio MDBB; Instituto Fernandes Figueira/Fiocruz, Avenida Rui Barbosa, Rio de Janeiro, 716, Brazil.
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Źródło:
BMC medicine [BMC Med] 2021 Feb 05; Vol. 19 (1), pp. 41. Date of Electronic Publication: 2021 Feb 05.
Typ publikacji:
Letter; Comment
MeSH Terms:
Craniosynostoses*
Zika Virus*
Zika Virus Infection*/epidemiology
Zika Virus Infection*/transmission
Child, Preschool ; Cohort Studies ; Humans ; Infant, Newborn ; Infectious Disease Transmission, Vertical
Opinia redakcyjna
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cognitive, behavioral and psychological functioning of children and adults with conservatively managed metopic synostosis.
Autorzy:
Osborn AJ; School of Psychology, University of Adelaide , Adelaide, South Australia, Australia.
Roberts RM; School of Psychology, University of Adelaide , Adelaide, South Australia, Australia.
Mathias JL; School of Psychology, University of Adelaide , Adelaide, South Australia, Australia.
Anderson PJ; The Australian Craniofacial Unit, Women's and Children's Hospital , North Adelaide, South Australia, Australia.
Flapper WJ; The Australian Craniofacial Unit, Women's and Children's Hospital , North Adelaide, South Australia, Australia.
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Źródło:
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence [Child Neuropsychol] 2021 Feb; Vol. 27 (2), pp. 190-208. Date of Electronic Publication: 2020 Sep 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Memory, Short-Term*
Anxiety/*psychology
Cognition/*physiology
Craniosynostoses/*complications
Executive Function/*physiology
Adolescent ; Adult ; Attention ; Case-Control Studies ; Child ; Child, Preschool ; Craniosynostoses/psychology ; Humans ; Inhibition, Psychological ; Male ; Mental Health ; Neuropsychological Tests ; Semantics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Pediatric Craniofacial Collaborative Group (PCCG) Consensus Conference Methodology.
Autorzy:
Derderian CK; Department of Anesthesia and Pediatric Anesthesia, University of Texas Southwestern, Children's Medical Center, Dallas, TX, USA.
Derderian CA; Department of Plastic Surgery and Craniofacial Surgery, University of Texas Southwestern, Children's Medical Center, Dallas, TX, USA.
Fernandez A; Department of Anesthesia and Perioperative and Pain Medicine, Johns Hopkins All Children's Hospital, St Petersburg, FL, USA.
Glover CD; Department of Anesthesia and Pediatric Anesthesia, Baylor University School of Medicine, Texas Children's Hospital, Houston, TX, USA.
Goobie S; Department of Anesthesia and Pediatric Anesthesia, Harvard University School of Medicine, Boston Children's Hospital, Boston, MA, USA.
Hansen JK; Department of Anesthesiology, Pediatric Division, Department of Anesthesiology, The University of Kansas Health System, Kansas City, KS, USA.
King M; Department of Anesthesiology and Pediatric Anesthesiology, Northwestern University Feinberg School of Medicine/Ann and Robert H. Lurie Children's Hospital, Chicago, IL, USA.
Kugler J; Department of Anesthesiology, Boys Town National Research Hospital, Omaha, NE, USA.
Lang SS; Department of Neurosurgery and Pediatric Neurosurgery, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Meier-Haran P; Department of Anesthesia and Pediatric Anesthesia, Harvard University School of Medicine, Boston Children's Hospital, Boston, MA, USA.
Nelson O; Department of Anesthesia and Pediatric Anesthesia, University of Pennsylvania, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Reddy SK; Department of Anesthesia and Pediatric Anesthesia, University of Vanderbilt School of Medicine, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN, USA.
Reid R; Department of Plastic and Reconstructive Surgery, University of Chicago School of Medicine, Comer Children's Hospital, Chicago, IL, USA.
Ricketts K; Department of Anesthesiology, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
Rottgers SA; Department of Plastic Surgery, Johns Hopkins All Children's Hospital, St Petersburg, FL, USA.
Singh D; Department of Plastic Surgery, Phoenix Children's Hospital, Phoenix, AZ, USA.
Szmuk P; Department of Anesthesia and Pediatric Anesthesia, University of Texas Southwestern, Children's Medical Center, Dallas, TX, USA.
Taicher BM; Department of Anesthesiology, Duke University School of Medicine, Durham, NC, USA.
Taylor J; Department of Plastic Surgery and Craniofacial Surgery, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Stricker PA; Department of Anesthesia and Pediatric Anesthesia, University of Pennsylvania, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
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Źródło:
Paediatric anaesthesia [Paediatr Anaesth] 2021 Feb; Vol. 31 (2), pp. 145-149. Date of Electronic Publication: 2020 Nov 28.
Typ publikacji:
Journal Article; Systematic Review
MeSH Terms:
Anemia*
Craniosynostoses*/surgery
Blood Transfusion ; Child ; Critical Care ; Humans ; Infant ; Skull
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Unravelling the health status of brachycephalic dogs in the UK using multivariable analysis.
Autorzy:
O'Neill DG; Pathobiology and Population Sciences, The Royal Veterinary College, Hawkshead Lane, North Mymms, Hatfield, AL9 7TA, Herts, UK. .
Pegram C; Pathobiology and Population Sciences, The Royal Veterinary College, Hawkshead Lane, North Mymms, Hatfield, AL9 7TA, Herts, UK.
Crocker P; Pathobiology and Population Sciences, The Royal Veterinary College, Hawkshead Lane, North Mymms, Hatfield, AL9 7TA, Herts, UK.
Brodbelt DC; Pathobiology and Population Sciences, The Royal Veterinary College, Hawkshead Lane, North Mymms, Hatfield, AL9 7TA, Herts, UK.
Church DB; Clinical Sciences and Services, The Royal Veterinary College, Hawkshead Lane, North Mymms, Hatfield, AL9 7TA, Herts, UK.
Packer RMA; Clinical Sciences and Services, The Royal Veterinary College, Hawkshead Lane, North Mymms, Hatfield, AL9 7TA, Herts, UK.
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Źródło:
Scientific reports [Sci Rep] 2020 Oct 14; Vol. 10 (1), pp. 17251. Date of Electronic Publication: 2020 Oct 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Craniosynostoses/*veterinary
Dog Diseases/*epidemiology
Animals ; Breeding ; Craniosynostoses/diagnosis ; Craniosynostoses/epidemiology ; Dog Diseases/diagnosis ; Dogs/classification ; Dogs/physiology ; Female ; Health Status ; Male ; Multivariate Analysis ; United Kingdom/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Morphometry and morphology of rostral cranial fossa in brachycephalic dogs - CT studies.
Autorzy:
Sokołowski W; Department of Morphological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences-SGGW, Warsaw, Poland.
Barszcz K; Department of Morphological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences-SGGW, Warsaw, Poland.
Kupczyńska M; Department of Morphological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences-SGGW, Warsaw, Poland.
Czopowicz M; Division of Veterinary Epidemiology and Economics, Institute of Veterinary Medicine, Warsaw University of Life Sciences-SGGW, Warsaw, Poland.
Czubaj N; Department of Morphological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences-SGGW, Warsaw, Poland.
Kinda W; Department of Surgery, Faculty of Veterinary Medicine, Wroclaw University of Environmental and Life Sciences, Wroclaw, Poland.
Kiełbowicz Z; Department of Surgery, Faculty of Veterinary Medicine, Wroclaw University of Environmental and Life Sciences, Wroclaw, Poland.
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Źródło:
PloS one [PLoS One] 2020 Oct 01; Vol. 15 (10), pp. e0240091. Date of Electronic Publication: 2020 Oct 01 (Print Publication: 2020).
Typ publikacji:
Journal Article
MeSH Terms:
Tomography, X-Ray Computed*
Craniosynostoses/*veterinary
Dog Diseases/*diagnostic imaging
Dog Diseases/*pathology
Skull/*diagnostic imaging
Skull/*pathology
Animals ; Craniosynostoses/diagnostic imaging ; Craniosynostoses/pathology ; Dogs
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
Autorzy:
Körberg I; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden. .
Nowinski D; Department of Surgical Sciences, Plastic Surgery, Uppsala University, Uppsala, Sweden.
Bondeson ML; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.
Melin M; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.
Kölby L; Department of Plastic Surgery, Institute for Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
Stattin EL; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.
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Źródło:
BMC medical genetics [BMC Med Genet] 2020 May 05; Vol. 21 (1), pp. 90. Date of Electronic Publication: 2020 May 05.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Craniosynostoses/*genetics
Intracranial Hypertension/*genetics
Repressor Proteins/*genetics
Adult ; Craniosynostoses/complications ; Craniosynostoses/pathology ; Craniosynostoses/surgery ; Female ; Heterozygote ; Humans ; Infant ; Intracranial Hypertension/complications ; Intracranial Hypertension/pathology ; Intracranial Hypertension/surgery ; Male ; Mothers ; Skull/pathology ; Skull/surgery
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Introducing a new method for classifying skull shape abnormalities related to craniosynostosis.
Autorzy:
Kronig ODM; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Centre, Erasmus MC - Sophia Children's Hospital, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Kronig SAJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Centre, Erasmus MC - Sophia Children's Hospital, University Medical Centre Rotterdam, Rotterdam, The Netherlands. .; Department of Plastic and Reconstructive Surgery and Hand Surgery, University Medical Centre Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands. .
Vrooman HA; Department of Radiology, Erasmus MC, Rotterdam, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Department of Medical Informatics, Erasmus MC, Rotterdam, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Veenland JF; Department of Radiology, Erasmus MC, Rotterdam, University Medical Centre Rotterdam, Rotterdam, The Netherlands.; Department of Medical Informatics, Erasmus MC, Rotterdam, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Jippes M; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Centre, Erasmus MC - Sophia Children's Hospital, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Boen T; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Centre, Erasmus MC - Sophia Children's Hospital, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Van Adrichem LNA; Department of Plastic and Reconstructive Surgery and Hand Surgery, University Medical Centre Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands.
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Źródło:
European journal of pediatrics [Eur J Pediatr] 2020 Oct; Vol. 179 (10), pp. 1569-1577. Date of Electronic Publication: 2020 Apr 17.
Typ publikacji:
Journal Article
MeSH Terms:
Craniosynostoses*/diagnostic imaging
Child ; Humans ; Infant ; Reproducibility of Results ; Research Design ; Skull/diagnostic imaging ; Tomography, X-Ray Computed
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au-Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.
Autorzy:
Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Shiraishi Y; Section of Genome Analysis Platform, Center for Cancer Genomic and Advanced Therapeutics, National Cancer Center Research Institute, Tokyo, Japan.
Uehara T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Abe-Hatano C; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Sep; Vol. 8 (9), pp. e1364. Date of Electronic Publication: 2020 Jun 26.
Typ publikacji:
Case Reports; Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cleft Palate/*genetics
Craniosynostoses/*genetics
Intellectual Disability/*genetics
RNA-Seq/*methods
Exome Sequencing/*methods
Cells, Cultured ; Child ; Cleft Palate/diagnosis ; Craniosynostoses/diagnosis ; Exome ; Female ; Heterogeneous-Nuclear Ribonucleoprotein K/genetics ; Heterozygote ; Humans ; Intellectual Disability/diagnosis ; RNA-Seq/standards ; Sensitivity and Specificity ; Syndrome ; Transcriptome ; Exome Sequencing/standards
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 61-80 z 2276

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