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Wyszukujesz frazę ""Abnormalities, Multiple"" wg kryterium: Temat


Tytuł :
Bilateral cervical chondrocutaneous branchial remnants: A case report and a review of the literature.
Autorzy :
Lee HS; Department of Surgery.
Kim TH; Department of Surgery.
Jang JY; Department of Surgery.
Woo JW; Department of Surgery.
Lee J; Department of Surgery.
Jeong SH; Department of Surgery.
Jung EJ; Department of Surgery.
An HJ; Department of Pathology, Gyeongsang National University Changwon Hospital, Gyeongsang National University School of Medicine, Changwon, Korea.
Park T; Department of Surgery.
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Źródło :
Medicine [Medicine (Baltimore)] 2020 Jul 10; Vol. 99 (28), pp. e21114.
Typ publikacji :
Case Reports; Journal Article; Review
Journal Info :
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Abnormalities, Multiple*
Branchial Region/*abnormalities
Cartilage/*abnormalities
Choristoma/*diagnosis
Neck/*abnormalities
Skin Abnormalities/*diagnosis
Biopsy ; Female ; Humans ; Infant
Czasopismo naukowe
Tytuł :
Commentary: Intraventricular conduit repair for double-outlet right ventricle with noncommitted ventricular septal defect-How bright is the light at the end of the tunnel?
Autorzy :
Jaggers J; Childrens Hospital Colorado, University of Colorado Anschutz Campus, Aurora, Colo. Electronic address: .
Stone M; Childrens Hospital Colorado, University of Colorado Anschutz Campus, Aurora, Colo.
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Źródło :
The Journal of thoracic and cardiovascular surgery [J Thorac Cardiovasc Surg] 2020 Jun; Vol. 159 (6), pp. 2404-2405. Date of Electronic Publication: 2019 Sep 17.
Typ publikacji :
Editorial; Comment
Journal Info :
Publisher: Mosby Country of Publication: United States NLM ID: 0376343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-685X (Electronic) Linking ISSN: 00225223 NLM ISO Abbreviation: J. Thorac. Cardiovasc. Surg. Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Abnormalities, Multiple*
Double Outlet Right Ventricle*
Heart Septal Defects, Ventricular*
Heart Ventricles ; Humans
Opinia redakcyjna
Tytuł :
[Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome].
Autorzy :
Bai Z; Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. .
Hu S
Liu N
Wu Q
Kong X
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 May 10; Vol. 37 (5), pp. 509-513.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple*/diagnosis
Abnormalities, Multiple*/genetics
Adaptor Proteins, Vesicular Transport*/genetics
Eye Abnormalities*/diagnosis
Eye Abnormalities*/genetics
Genetic Testing*
Kidney Diseases, Cystic*/diagnosis
Kidney Diseases, Cystic*/genetics
Membrane Proteins*/genetics
Prenatal Diagnosis*
Cerebellum/*abnormalities
Retina/*abnormalities
Female ; Genetic Variation ; Humans ; Mutation ; Pregnancy
SCR Disease Name :
Agenesis of Cerebellar Vermis
Czasopismo naukowe
Tytuł :
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
Autorzy :
Sumathipala D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
Strømme P; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.; Faculty of Medicine, University of Oslo, Oslo, Norway.
Gilissen C; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.
Einarsen IH; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
Bjørndalen HJ; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Server A; Section of Neuroradiology, Department of Radiology and Nuclear Medicine, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Corominas J; Department of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.
Hassel B; Faculty of Medicine, University of Oslo, Oslo, Norway.; Department of Neurohabilitation and Complex Neurology, Oslo University Hospital, Ullevål, Oslo, Norway.
Fannemel M; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway. .
Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 May 07; Vol. 21 (1), pp. 96. Date of Electronic Publication: 2020 May 07.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med. Genet. Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple/*genetics
Cell Cycle Proteins/*genetics
Cerebellum/*abnormalities
Death, Sudden/*pathology
Epilepsy/*genetics
Eye Abnormalities/*genetics
Kidney Diseases, Cystic/*genetics
Retina/*abnormalities
Abnormalities, Multiple/mortality ; Abnormalities, Multiple/pathology ; Adult ; Cerebellum/pathology ; Child ; Death, Sudden/epidemiology ; Developmental Disabilities/genetics ; Developmental Disabilities/mortality ; Developmental Disabilities/pathology ; Epilepsy/mortality ; Epilepsy/pathology ; Eye Abnormalities/mortality ; Eye Abnormalities/pathology ; Female ; Heterozygote ; Humans ; INDEL Mutation ; Kidney Diseases, Cystic/mortality ; Kidney Diseases, Cystic/pathology ; Male ; Pituitary Gland, Posterior/metabolism ; Pituitary Gland, Posterior/pathology ; Retina/pathology ; Whole Genome Sequencing ; Young Adult
SCR Disease Name :
Agenesis of Cerebellar Vermis
Czasopismo naukowe
Tytuł :
An inducible intestinal epithelial cell-specific NHE3 knockout mouse model mimicking congenital sodium diarrhea.
Autorzy :
Xue J; Department of Molecular Pharmacology and Physiology, University of South Florida, Tampa, Florida.
Thomas L; Department of Molecular Pharmacology and Physiology, University of South Florida, Tampa, Florida.
Tahmasbi M; Department of Pathology and Cell Biology, University of South Florida, Tampa, Florida.
Valdez A; Department of Molecular Pharmacology and Physiology, University of South Florida, Tampa, Florida.
Dominguez Rieg JA; Department of Molecular Pharmacology and Physiology, University of South Florida, Tampa, Florida.
Fenton RA; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Rieg T; Department of Molecular Pharmacology and Physiology, University of South Florida, Tampa, Florida.
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Źródło :
Clinical science (London, England : 1979) [Clin Sci (Lond)] 2020 Apr 30; Vol. 134 (8), pp. 941-953.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Portland Press on behalf of the Medical Research Society and the Biochemical Society Country of Publication: England NLM ID: 7905731 Publication Model: Print Cited Medium: Internet ISSN: 1470-8736 (Electronic) Linking ISSN: 01435221 NLM ISO Abbreviation: Clin. Sci. Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple/*genetics
Diarrhea/*congenital
Epithelial Cells/*metabolism
Metabolism, Inborn Errors/*genetics
Sodium-Hydrogen Exchanger 3/*genetics
Abnormalities, Multiple/metabolism ; Abnormalities, Multiple/mortality ; Abnormalities, Multiple/pathology ; Animals ; Diarrhea/genetics ; Diarrhea/metabolism ; Diarrhea/mortality ; Diarrhea/pathology ; Disease Models, Animal ; Female ; Humans ; Intestinal Mucosa/metabolism ; Intestinal Mucosa/pathology ; Male ; Metabolism, Inborn Errors/metabolism ; Metabolism, Inborn Errors/mortality ; Metabolism, Inborn Errors/pathology ; Mice ; Mice, Knockout ; Mutation ; Sodium-Hydrogen Exchanger 3/metabolism
SCR Disease Name :
Diarrhea 3, Secretory Sodium, Congenital
Czasopismo naukowe
Tytuł :
The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant.
Autorzy :
Zhang Q; Laboratory of Genetic and Metabolism, Department of Paediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi.
Chen S; Laboratory of Genetic and Metabolism, Department of Paediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi.; Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, China.
Qin Z; Laboratory of Genetic and Metabolism, Department of Paediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi.
Zheng H; Laboratory of Genetic and Metabolism, Department of Paediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi.
Fan X; Laboratory of Genetic and Metabolism, Department of Paediatric Endocrine and Metabolism, Maternal and Child Health Hospital of Guangxi.; Department of Pediatrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning, China.
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Źródło :
Medicine [Medicine (Baltimore)] 2020 Apr; Vol. 99 (15), pp. e19751.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Abnormalities, Multiple/*genetics
Developmental Disabilities/*genetics
Intellectual Disability/*genetics
Muscular Atrophy/*genetics
RNA-Binding Proteins/*genetics
Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/rehabilitation ; Abnormalities, Multiple/therapy ; Asian Continental Ancestry Group/genetics ; Child, Preschool ; Developmental Disabilities/diagnosis ; Developmental Disabilities/rehabilitation ; Developmental Disabilities/therapy ; Facies ; Genetic Counseling/standards ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/rehabilitation ; Intellectual Disability/therapy ; Male ; Muscular Atrophy/diagnosis ; Muscular Atrophy/rehabilitation ; Muscular Atrophy/therapy ; Mutation/genetics ; Phenotype ; Syndrome ; Whole Exome Sequencing/methods
SCR Disease Name :
Thakker Donnai syndrome
Czasopismo naukowe
Tytuł :
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.
Autorzy :
Jinxiu L; Yinfeng Medical Laboratory, Jinan Shandong.
Shuimei L; Yinfeng Medical Laboratory, Jinan Shandong.
Ming X; Genetics Diagnostic Lab, Tai'an Maternity and Child Care Hospital, Tai'an, China.
Jonathan LC; SoftGenetics LLC, 100 Oakwood Ave, State College, Pennsylvania 16803, USA.
Xiangju L; Genetics Diagnostic Lab, Tai'an Maternity and Child Care Hospital, Tai'an, China.
Wenyuan D; Yinfeng Medical Laboratory, Jinan Shandong.
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Źródło :
Medicine [Medicine (Baltimore)] 2020 Apr; Vol. 99 (16), pp. e19813.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Abnormalities, Multiple/*genetics
Blepharophimosis/*diagnosis
Contracture/*genetics
Growth Disorders/*diagnosis
Growth Disorders/*genetics
Heart Defects, Congenital/*diagnosis
Histone-Lysine N-Methyltransferase/*genetics
Hypertrichosis/*congenital
Intellectual Disability/*genetics
Microcephaly/*genetics
Myeloid-Lymphoid Leukemia Protein/*genetics
Skin Abnormalities/*diagnosis
Urogenital Abnormalities/*diagnosis
Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/therapy ; Asian Continental Ancestry Group/genetics ; Child ; Contracture/diagnosis ; Contracture/therapy ; Diagnostic Errors ; Facies ; Genotype ; Growth Disorders/etiology ; Growth Disorders/therapy ; Growth Hormone/therapeutic use ; Heart Defects, Congenital/surgery ; Humans ; Hypertrichosis/diagnosis ; Hypertrichosis/etiology ; Intellectual Disability/diagnosis ; Intellectual Disability/therapy ; Male ; Microcephaly/diagnosis ; Microcephaly/therapy ; Mutation ; Phenotype ; Treatment Outcome ; Whole Exome Sequencing/methods
SCR Disease Name :
Blepharophimosis, Ptosis, and Epicanthus Inversus; Growth Deficiency and Mental Retardation with Facial Dysmorphism; Hairy elbows
Czasopismo naukowe
Tytuł :
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.
Autorzy :
David D; Department of Human Genetics, National Health Institute Doutor Ricardo Jorge, Av. Padre Cruz, 1649-016, Lisbon, Portugal. .
Freixo JP; Department of Medical Genetics, Central Lisbon Hospital Center (CHLC), Lisbon, Portugal.
Fino J; Department of Human Genetics, National Health Institute Doutor Ricardo Jorge, Av. Padre Cruz, 1649-016, Lisbon, Portugal.
Carvalho I; Department of Medical Genetics, Central Lisbon Hospital Center (CHLC), Lisbon, Portugal.
Marques M; Department of Human Genetics, National Health Institute Doutor Ricardo Jorge, Av. Padre Cruz, 1649-016, Lisbon, Portugal.
Cardoso M; Department of Human Genetics, National Health Institute Doutor Ricardo Jorge, Av. Padre Cruz, 1649-016, Lisbon, Portugal.
Piña-Aguilar RE; Harvard Medical School, Boston, MA, USA.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.
Morton CC; Harvard Medical School, Boston, MA, USA.; Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Manchester Academic Health Science Center, University of Manchester, Manchester, UK.
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Źródło :
Human genetics [Hum Genet] 2020 Apr; Vol. 139 (4), pp. 531-543. Date of Electronic Publication: 2020 Feb 06.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple*/diagnosis
Abnormalities, Multiple*/genetics
Bone Diseases, Developmental*/diagnosis
Bone Diseases, Developmental*/genetics
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Facies*
Genes, Dominant*
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Prenatal Diagnosis*
Tooth Abnormalities*/diagnosis
Tooth Abnormalities*/genetics
Translocation, Genetic*
Chromosomes, Human/*genetics
Adolescent ; Adult ; Female ; Humans ; Male ; Pregnancy ; Workflow
SCR Disease Name :
KBG syndrome
Czasopismo naukowe
Tytuł :
[Genetic analysis of an infant with duplication of 22q12.1-q13.3].
Autorzy :
Li R; Genetic and Prenatal Screening Center, Maternal and Child Health Care Hospital of Jiaozuo, Jiaozuo, Henan 454000, China. .
Wang A
Wang J
Shi P
Ma Y
Kong X
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 May 10; Vol. 37 (5), pp. 555-558.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple*/genetics
Chromosome Duplication*
Chromosomes, Human, Pair 22*/genetics
Child ; Cleft Palate/genetics ; DNA Copy Number Variations ; Genetic Testing ; Heart Defects, Congenital/genetics ; Humans ; Infant ; Karyotyping
Czasopismo naukowe
Tytuł :
[Phenotypic and genetic analysis of a boy with partial trisomy of 22q].
Autorzy :
Zhang B; Henan Provincial Key Laboratory for Inborn Errors of Metabolism in Children, Children's Hospital Affiliated of Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450003, China. .
Xu Y
Kong J
Song Y
Li D
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 May 10; Vol. 37 (5), pp. 532-534.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple*/genetics
Chromosomes, Human, Pair 22*/genetics
Trisomy*
Adult ; Child ; Chromosome Banding ; Female ; Genetic Testing ; Humans ; Intellectual Disability/genetics ; Karyotyping ; Male
Czasopismo naukowe
Tytuł :
Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature.
Autorzy :
Nishiyama K; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Kurokawa M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Torio M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan. .
Arima M; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Tsukamoto S; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Obata S; Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Minamikawa S; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Kaku N; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.; Emergency and Critical Care Center, Kyushu University Hospital, Fukuoka, Japan.
Maehara Y; Emergency and Critical Care Center, Kyushu University Hospital, Fukuoka, Japan.
Sonoda KH; Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Taguchi T; Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Emergency and Critical Care Center, Kyushu University Hospital, Fukuoka, Japan.
Ohga S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 Apr 15; Vol. 21 (1), pp. 80. Date of Electronic Publication: 2020 Apr 15.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med. Genet. Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple/*genetics
Laminin/*genetics
Myasthenic Syndromes, Congenital/*genetics
Nephrotic Syndrome/*genetics
Pupil Disorders/*genetics
Abnormalities, Multiple/pathology ; Gastrointestinal Tract/metabolism ; Gastrointestinal Tract/pathology ; Humans ; Infant ; Male ; Mutation ; Myasthenic Syndromes, Congenital/pathology ; Nephrotic Syndrome/pathology ; Phenotype ; Pupil Disorders/pathology
SCR Disease Name :
Pierson syndrome
Czasopismo naukowe
Tytuł :
Utilization of Diagnostic Testing for Renal Anomalies and Congenital Heart Disease in Patients with Microtia.
Autorzy :
Ramprasad VH; Department of Otolaryngology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
Shaffer AD; Department of Otolaryngology, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
Jabbour N; Department of Otolaryngology, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
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Źródło :
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery [Otolaryngol Head Neck Surg] 2020 Apr; Vol. 162 (4), pp. 554-558. Date of Electronic Publication: 2020 Jan 21.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Sage Country of Publication: England NLM ID: 8508176 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6817 (Electronic) Linking ISSN: 01945998 NLM ISO Abbreviation: Otolaryngol Head Neck Surg Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple/*diagnosis
Congenital Microtia/*complications
Heart Defects, Congenital/*complications
Heart Defects, Congenital/*diagnosis
Kidney/*abnormalities
Abnormalities, Multiple/epidemiology ; Adolescent ; Child ; Child, Preschool ; Diagnostic Techniques and Procedures/statistics & numerical data ; Female ; Heart Defects, Congenital/epidemiology ; Humans ; Infant ; Infant, Newborn ; Male ; Prevalence ; Procedures and Techniques Utilization/statistics & numerical data ; Retrospective Studies
Czasopismo naukowe
Tytuł :
[Reply to a Comment by Prof. Henrique Carmona da Mota About the Article Published in Acta Med Port 2019 Sep;32(9):565-567].
Transliterated Title :
Resposta a um Comentário do Prof. Henrique Carmona da Mota Sobre o Artigo Publicado em Acta Med Port 2019 Sep;32(9):565–567.
Autorzy :
Ponte J; Professor Emérito. Universidade do Algarve. Faro. Portugal.
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Źródło :
Acta medica portuguesa [Acta Med Port] 2020 Apr 01; Vol. 33 (4), pp. 291. Date of Electronic Publication: 2020 Apr 01.
Typ publikacji :
Letter; Comment
Journal Info :
Publisher: Centro Editor Livreiro da Ordem dos Médicos Country of Publication: Portugal NLM ID: 7906803 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1646-0758 (Electronic) Linking ISSN: 0870399X NLM ISO Abbreviation: Acta Med Port Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple*
Coloboma*
Hypertelorism*
Anal Canal ; Humans
Opinia redakcyjna
Tytuł :
Dual independent genetic etiologies in a lethal complex malformation phenotype.
Transliterated Title :
Zwei unabhängige genetische Ätiologien in einem letalen komplexen Fehlbildungsphänotyp.
Autorzy :
Filges I; Medical Genetics, Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Switzerland.
Genewein A; Neonatology, University Children's Hospital Basel and University of Basel, Switzerland.
Weber P; Pediatric Neurology and Developmental Medicine, University Children's Hospital Basel and University of Basel, Switzerland.
Meier S; Medical Genetics, Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Switzerland.
Deigendesch N; Pathology, Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Switzerland.
Bruder E; Pathology, Institute for Medical Genetics and Pathology, University Hospital Basel and University of Basel, Switzerland.
Prüfer F; Pediatric Radiology, University Children's Hospital Basel and University of Basel, Switzerland.
Tercanli S; Center for Prenatal Ultrasound, Freie Strasse, Basel and University of Basel, Switzerland.
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Źródło :
Ultraschall in der Medizin (Stuttgart, Germany : 1980) [Ultraschall Med] 2020 Apr; Vol. 41 (2), pp. 112-114. Date of Electronic Publication: 2020 Apr 07.
Typ publikacji :
Journal Article
Journal Info :
Publisher: G. Thieme Verlag Country of Publication: Germany NLM ID: 8303585 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1438-8782 (Electronic) Linking ISSN: 01724614 NLM ISO Abbreviation: Ultraschall Med Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple*/genetics
Phenotype*
Genotype ; Humans
Czasopismo naukowe
Tytuł :
Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
Autorzy :
Yap CS; Research Laboratory, KK Women's & Children's Hospital, Singapore.
Jamuar SS; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.
Lai AHM; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.
Tan ES; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.
Ng I; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.
Ting TW; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.
Tan EC; Research Laboratory, KK Women's & Children's Hospital, Singapore; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore. Electronic address: .
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Źródło :
Gene [Gene] 2020 Mar 20; Vol. 731, pp. 144360. Date of Electronic Publication: 2020 Jan 11.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple/*genetics
Congenital Abnormalities/*genetics
DNA-Binding Proteins/*genetics
Face/*abnormalities
Hematologic Diseases/*genetics
Histone Demethylases/*genetics
Neoplasm Proteins/*genetics
Vestibular Diseases/*genetics
Abnormalities, Multiple/epidemiology ; Asia, Southeastern/epidemiology ; Child ; Child, Preschool ; Cohort Studies ; Congenital Abnormalities/epidemiology ; DNA Mutational Analysis/methods ; Female ; Hematologic Diseases/epidemiology ; High-Throughput Nucleotide Sequencing ; Humans ; INDEL Mutation ; Infant ; Infant, Newborn ; Male ; Mutation, Missense ; Phenotype ; Sequence Analysis, DNA ; Vestibular Diseases/epidemiology
SCR Disease Name :
Kabuki syndrome
Czasopismo naukowe
Tytuł :
Left Ventricle to Right Atrial Shunt Associated With Ventricular-Atrial Malalignment, Double Outlet Right Atrium, and Subaortic Membrane.
Autorzy :
Guenther T; Department of Surgery, University of California Davis, Sacramento, California. Electronic address: .
Godoy L; Department of Surgery, University of California Davis, Sacramento, California.
Chen S; Department of Surgery, University of California Davis, Sacramento, California.
Yeh J; Department of Pediatrics, University of California Davis, Sacramento, California.
Raff G; Department of Surgery, University of California Davis, Sacramento, California.
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Źródło :
Seminars in thoracic and cardiovascular surgery [Semin Thorac Cardiovasc Surg] 2020 Spring; Vol. 32 (1), pp. 140-142. Date of Electronic Publication: 2019 Sep 11.
Typ publikacji :
Case Reports; Video-Audio Media
Journal Info :
Publisher: W.B. Saunders Country of Publication: United States NLM ID: 8917640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-9488 (Electronic) Linking ISSN: 10430679 NLM ISO Abbreviation: Semin. Thorac. Cardiovasc. Surg. Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple*
Cardiac Surgical Procedures*
Hemodynamics*
Discrete Subaortic Stenosis/*surgery
Heart Atria/*surgery
Heart Defects, Congenital/*surgery
Heart Septal Defects, Atrial/*surgery
Heart Valves/*surgery
Asymptomatic Diseases ; Child ; Discrete Subaortic Stenosis/diagnostic imaging ; Discrete Subaortic Stenosis/physiopathology ; Heart Atria/abnormalities ; Heart Atria/diagnostic imaging ; Heart Atria/physiopathology ; Heart Defects, Congenital/diagnostic imaging ; Heart Defects, Congenital/physiopathology ; Heart Septal Defects, Atrial/diagnostic imaging ; Heart Septal Defects, Atrial/physiopathology ; Heart Valves/abnormalities ; Heart Valves/diagnostic imaging ; Heart Valves/physiopathology ; Humans ; Male ; Recovery of Function ; Treatment Outcome
SCR Disease Name :
Subaortic Stenosis, Membranous
Raport
Tytuł :
"RE: Lin JL, et al. 'Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.' Clin Genet. 2015;88(3):255-260".
Autorzy :
Lindsley AW; Division of Allergy and Immunology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
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Źródło :
Clinical genetics [Clin Genet] 2020 Mar; Vol. 97 (3), pp. 538-539.
Typ publikacji :
Letter; Comment
Journal Info :
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin. Genet. Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple*
Hematologic Diseases*
Vestibular Diseases*
Face/abnormalities ; Humans ; Mutation
SCR Disease Name :
Kabuki syndrome
Opinia redakcyjna
Tytuł :
Intermediate-Term Outcomes of Slide Tracheoplasty in Pediatric Patients With Ring-Sling Complex.
Autorzy :
Chen H; Department of Cardiothoracic Surgery, Heart Center, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Shi G; Department of Cardiothoracic Surgery, Heart Center, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Zhu L; Department of Cardiothoracic Surgery, Heart Center, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Wang S; Department of Cardiothoracic Surgery, Heart Center, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Lu Z; Department of Cardiothoracic Surgery, Heart Center, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Xu Z; Department of Cardiothoracic Surgery, Heart Center, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. Electronic address: .
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Źródło :
The Annals of thoracic surgery [Ann Thorac Surg] 2020 Mar; Vol. 109 (3), pp. 820-827. Date of Electronic Publication: 2019 Aug 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Elsevier Country of Publication: Netherlands NLM ID: 15030100R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-6259 (Electronic) Linking ISSN: 00034975 NLM ISO Abbreviation: Ann. Thorac. Surg. Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Abnormalities, Multiple*
Pulmonary Artery/*abnormalities
Reconstructive Surgical Procedures/*methods
Trachea/*surgery
Tracheal Stenosis/*surgery
Vascular Ring/*complications
Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Retrospective Studies ; Tomography, X-Ray Computed ; Trachea/abnormalities ; Tracheal Stenosis/diagnosis ; Tracheal Stenosis/etiology ; Treatment Outcome ; Vascular Ring/diagnosis ; Vascular Ring/surgery
Czasopismo naukowe
Tytuł :
Separate slit-like origin of the left circumflex artery with bicuspid aortic valve.
Autorzy :
Khurana R; Department of Cardiovascular Radiology and Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, India.
Pandey NN; Department of Cardiovascular Radiology and Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, India.
Sharma A; Department of Cardiovascular Radiology and Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, India.
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Źródło :
Asian cardiovascular & thoracic annals [Asian Cardiovasc Thorac Ann] 2020 Mar; Vol. 28 (3), pp. 187-188. Date of Electronic Publication: 2020 Jan 08.
Typ publikacji :
Case Reports
Journal Info :
Publisher: Sage Country of Publication: England NLM ID: 9503417 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1816-5370 (Electronic) Linking ISSN: 02184923 NLM ISO Abbreviation: Asian Cardiovasc Thorac Ann Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple*
Coronary Vessels*/diagnostic imaging
Aortic Valve/*abnormalities
Coronary Vessel Anomalies/*complications
Heart Valve Diseases/*complications
Aortic Valve/diagnostic imaging ; Coronary Vessel Anomalies/diagnostic imaging ; Heart Valve Diseases/diagnostic imaging ; Humans ; Male ; Middle Aged
SCR Disease Name :
Bicuspid Aortic Valve
Raport
Tytuł :
Anomalous vertebral artery origin from common carotid artery.
Autorzy :
Sharma A; Department of Cardiovascular Radiology and Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, India.
Ojha V; Department of Cardiovascular Radiology and Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, India.
Raju SN; Department of Cardiovascular Radiology and Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, India.
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Źródło :
Asian cardiovascular & thoracic annals [Asian Cardiovasc Thorac Ann] 2020 Mar; Vol. 28 (3), pp. 185-186. Date of Electronic Publication: 2020 Jan 02.
Typ publikacji :
Case Reports
Journal Info :
Publisher: Sage Country of Publication: England NLM ID: 9503417 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1816-5370 (Electronic) Linking ISSN: 02184923 NLM ISO Abbreviation: Asian Cardiovasc Thorac Ann Subsets: MEDLINE
MeSH Terms :
Abnormalities, Multiple*
Vascular Malformations*/complications
Vascular Malformations*/diagnostic imaging
Carotid Artery, Common/*abnormalities
Vertebral Artery/*abnormalities
Carotid Artery, Common/diagnostic imaging ; Child ; Double Outlet Right Ventricle/complications ; Heart Septal Defects, Ventricular/complications ; Humans ; Pulmonary Valve Stenosis/complications ; Vertebral Artery/diagnostic imaging
Raport

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