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Tytuł:
High Incidence of CPLANE1 -Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
Autorzy:
Bozhinovski G; Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, North Macedonia; Contributed equally
Terzikj M; Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, North Macedonia; Contributed equally
Kubelka-Sabit K; Department of Laboratory for Histopathology and Cytology, Clinical Hospital Acıbadem Sistina, Skopje, North Macedonia; Faculty of Medical Sciences, Goce Delchev University, Stip, North Macedonia
Plaseska-Karanfilska D; Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, North Macedonia
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Źródło:
Balkan medical journal [Balkan Med J] 2024 Mar 01; Vol. 41 (2), pp. 97-104. Date of Electronic Publication: 2024 Feb 14.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*/epidemiology
Abnormalities, Multiple*/genetics
Abortion, Spontaneous*/etiology
Abortion, Spontaneous*/genetics
Cerebellum*/abnormalities
Eye Abnormalities*/epidemiology
Eye Abnormalities*/genetics
Kidney Diseases, Cystic*/epidemiology
Kidney Diseases, Cystic*/genetics
Retina*/abnormalities
Female ; Humans ; Pregnancy ; Case-Control Studies ; Cohort Studies ; European People ; Incidence
SCR Disease Name:
Agenesis of Cerebellar Vermis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Cloacal Dysgenesis Sequence in a Preterm Neonate.
Autorzy:
Vacaru A; School of Medicine, Loma Linda University, Loma Linda, CA, USA.
Won MM; School of Medicine, Loma Linda University, Loma Linda, CA, USA.
Raymond SL; Division of Pediatric Surgery, Loma Linda University Children's Hospital, Loma Linda, CA, USA.
Chamberlin JD; Division of Pediatric Urology, Loma Linda University Children's Hospital, Loma Linda, CA, USA.
Radulescu A; School of Medicine, Loma Linda University, Loma Linda, CA, USA.; Division of Pediatric Surgery, Loma Linda University Children's Hospital, Loma Linda, CA, USA.
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Źródło:
The American journal of case reports [Am J Case Rep] 2024 Feb 27; Vol. 25, pp. e942203. Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Ascites*
Abnormalities, Multiple*/diagnostic imaging
Abnormalities, Multiple*/surgery
Infant, Newborn ; Animals ; Female ; Pregnancy ; Humans ; Child ; Young Adult ; Adult ; Cloaca/diagnostic imaging ; Cloaca/surgery ; Cloaca/abnormalities ; Ultrasonography, Prenatal/methods ; Vagina/diagnostic imaging ; Vagina/surgery ; Vagina/abnormalities
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study.
Autorzy:
Wu CY; Department of Ultrasonic Medicine, Fetal Medical Centre, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
Zhou Y; Department of Obstetrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
Yin X; Department of Ultrasonic Medicine, Fetal Medical Centre, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
Peng R; Department of Ultrasonic Medicine, Fetal Medical Centre, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China. .
Xie HN; Department of Ultrasonic Medicine, Fetal Medical Centre, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China. .
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Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2024 Apr 18; Vol. 24 (1), pp. 288. Date of Electronic Publication: 2024 Apr 18.
Typ publikacji:
Journal Article
MeSH Terms:
Uniparental Disomy*/genetics
Abnormalities, Multiple*
Female ; Infant, Newborn ; Pregnancy ; Humans ; Retrospective Studies ; Fetal Growth Retardation/genetics ; Ultrasonography, Prenatal ; Prenatal Diagnosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Anesthesia management for a child with the Koolen-de Vries syndrome: a case report.
Autorzy:
Zhao Y; Department of Anesthesiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.; The Research Units of West China (2018RU012)-Chinese Academy of Medical Sciences, West China Hospital, Sichuan University, Chengdu, China.
Zuo Y; Department of Anesthesiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China. .; The Research Units of West China (2018RU012)-Chinese Academy of Medical Sciences, West China Hospital, Sichuan University, Chengdu, China. .
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Źródło:
BMC anesthesiology [BMC Anesthesiol] 2024 Apr 13; Vol. 24 (1), pp. 143. Date of Electronic Publication: 2024 Apr 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Intellectual Disability*
Laryngomalacia*
Abnormalities, Multiple*
Chromosome Deletion*
Male ; Child ; Female ; Humans ; Infant ; Child, Preschool ; Muscle Hypotonia ; Rare Diseases ; Anesthesia, General ; Chromosomes, Human, Pair 17
SCR Disease Name:
Chromosome 17q21.31 Deletion Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.
Autorzy:
Liu Y; Department of Pediatrics, Peking University People's Hospital, Beijing, China.
Ma X; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Chen Z; Department of Pediatrics, Peking University First Hospital, Beijing, China.
He R; Department of Respiration, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Dong H; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Ma Y; Department of Pediatrics, Qinghai University Affiliated Hospital, Xining, China.
Wu T; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Wang Q; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Ding Y; Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Li X; Department of Precise Medicine, General Hospital of Tianjin Medical University, Tianjin, China.
Li D; Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
Song J; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Li M; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Jin Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Qin J; Department of Pediatrics, Peking University People's Hospital, Beijing, China. .
Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 12; Vol. 19 (1), pp. 159. Date of Electronic Publication: 2024 Apr 12.
Typ publikacji:
Journal Article
MeSH Terms:
Citrullinemia*
Amino Acid Metabolism, Inborn Errors*
Abnormalities, Multiple*
Angelman Syndrome*
Male ; Female ; Humans ; Child ; Mitochondrial Membrane Transport Proteins
SCR Disease Name:
Methylmalonic acidemia
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Aberrant splicing caused by a novel KMT2A variant in Wiedemann-Steiner syndrome.
Autorzy:
Niu J; Reproductive Medicine Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Obstetrics and Gynecology, Jiaxing Maternity and Child Health Care Hospital, College of Medicine, Jiaxing University, Jiaxing, China.
Teng X; Reproductive Medicine Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
Zhang J; Reproductive Medicine Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2415.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Abnormalities, Multiple*/genetics
Rectal Fistula*
Growth Disorders*
Contracture*
Intellectual Disability*
Facies*
Microcephaly*
Child ; Female ; Humans ; Child, Preschool ; Syndrome ; RNA
SCR Disease Name:
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Intoxication of antibiotic persisters by host RNS inactivates their efflux machinery during infection.
Autorzy:
Ronneau S; Department of Microbiology, Harvard Medical School, Boston, Massachusetts, United States of America.
Michaux C; Department of Microbiology, Harvard Medical School, Boston, Massachusetts, United States of America.
Giorgio RT; Department of Microbiology, Harvard Medical School, Boston, Massachusetts, United States of America.
Helaine S; Department of Microbiology, Harvard Medical School, Boston, Massachusetts, United States of America.
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Źródło:
PLoS pathogens [PLoS Pathog] 2024 Feb 29; Vol. 20 (2), pp. e1012033. Date of Electronic Publication: 2024 Feb 29 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Anti-Bacterial Agents*/pharmacology
Fluoroquinolones*
Osteosclerosis*
Exophthalmos*
Abnormalities, Multiple*
Cleft Palate*
Microcephaly*
Biological Transport ; Monobactams ; Proton-Motive Force
SCR Disease Name:
Raine syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report.
Autorzy:
Hundarova K; Gynecology Department, Coimbra Hospital and University Center, Coimbra, Portugal.
Geraldes F; Gynecology Department, Coimbra Hospital and University Center, Coimbra, Portugal.
Águas F; Gynecology Department, Coimbra Hospital and University Center, Coimbra, Portugal.
Rodrigues Â; Gynecology Department, Coimbra Hospital and University Center, Coimbra, Portugal.
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Źródło:
The American journal of case reports [Am J Case Rep] 2024 Feb 20; Vol. 25, pp. e942748. Date of Electronic Publication: 2024 Feb 20.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Abnormalities, Multiple*
Nervous System Malformations*/complications
Congenital Abnormalities*
Vagina/*abnormalities
Female ; Humans ; Adolescent ; Vagina/surgery ; Pelvic Pain/etiology
SCR Disease Name:
Vagina, absence of
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Measurement of the Neutrophils Count and Oxidative Burst in Neutrophils of Patients with Sanjad Sakati Syndrome.
Autorzy:
Abolnezhadian F; Department of Pediatrics, Abuzar Children's Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. .
Aminzadeh M; Pediatric Endocrinology and Metabolism, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. .
Iranparast S; Department of Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran AND Immunology Research Center, Institute of Immunology and Infectious Diseases, Iran University of Medical Sciences, Tehran, Iran. .
Dehnavi S; Immunology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. .
Dousti F; Immunobiology Center of Pasteur Medical Laboratory, Ahvaz, Iran. fateme_.
Sharifat M; Department of Immunology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. .
Moradzadegan H; Immunobiology Center of Pasteur Medical Laboratory, Ahvaz, Iran. .
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Źródło:
Iranian journal of allergy, asthma, and immunology [Iran J Allergy Asthma Immunol] 2024 Feb 11; Vol. 23 (1), pp. 115-121. Date of Electronic Publication: 2024 Feb 11.
Typ publikacji:
Journal Article
MeSH Terms:
Neutrophils*/physiology
Intellectual Disability*/diagnosis
Abnormalities, Multiple*
Growth Disorders*
Acrocephalosyndactylia*
Osteochondrodysplasias*
Hypoparathyroidism*
Seizures*
Humans ; Respiratory Burst ; Leukocyte Count ; Lymphocyte Count
SCR Disease Name:
Sakati syndrome; Hypoparathyroidism-retardation-dysmorphism syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
Autorzy:
Wayhelova M; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic. .; Centre of Molecular Biology and Genetics, University Hospital Brno, Brno, Czech Republic. .
Vallova V; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.; Centre of Molecular Biology and Genetics, University Hospital Brno, Brno, Czech Republic.
Broz P; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University Prague and University Hospital Motol, Prague, Czech Republic.
Mikulasova A; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK.
Smetana J; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
Dynkova Filkova H; Centre of Molecular Biology and Genetics, University Hospital Brno, Brno, Czech Republic.
Machackova D; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
Handzusova K; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
Gaillyova R; Department of Medical Genetics and Genomics, University Hospital Brno, Brno, Czech Republic.
Kuglik P; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.; Centre of Molecular Biology and Genetics, University Hospital Brno, Brno, Czech Republic.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 06; Vol. 19 (1), pp. 41. Date of Electronic Publication: 2024 Feb 06.
Typ publikacji:
Journal Article
MeSH Terms:
Neurodevelopmental Disorders*/genetics
Abnormalities, Multiple*
Humans ; Child ; Exome Sequencing ; Pathology, Molecular ; DNA Copy Number Variations
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A de novo variant of BICRA results in Coffin-Siris syndrome 12.
Autorzy:
Tu Y; Department of Pediatric Neurology, Ningbo Women and Children's Hospital, Ningbo, China.
Fang C; Department of Pediatric Neurology, Ningbo Women and Children's Hospital, Ningbo, China.
Xu J; Department of Radiology, Ningbo Women and Children's Hospital, Ningbo, China.
Zhou Y; Department of Pediatric Neurology, Ningbo Women and Children's Hospital, Ningbo, China.
Liang M; Cipher Gene LLC, Beijing, China.
Yang Z; Cipher Gene LLC, Beijing, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Nov; Vol. 11 (11), pp. e2250. Date of Electronic Publication: 2023 Jul 24.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/genetics
Abnormalities, Multiple*/genetics
Abnormalities, Multiple*/diagnosis
Micrognathism*/genetics
Humans ; Transcription Factors/genetics
SCR Disease Name:
Coffin-Siris syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Autorzy:
Hennocq Q; Imagine Institute, INSERM UMR1163, 75015, Paris, France. .; Service de chirurgie maxillo-faciale et chirurgie plastique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France. .; Centre de Référence des Malformations Rares de la Face et de la Cavité Buccale MAFACE, Filière Maladies Rares TeteCou, Paris, France. .; Faculté de Médecine, Université de Paris Cité, 75015, Paris, France. .; Laboratoire 'Forme et Croissance du Crâne', Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France. .; Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015, Paris, France. .
Willems M; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Centre de référence anomalies du développement SOOR, INSERM U1183, Montpellier University, Montpellier, France.
Amiel J; Imagine Institute, INSERM UMR1163, 75015, Paris, France.; Faculté de Médecine, Université de Paris Cité, 75015, Paris, France.; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Arpin S; Service de Génétique, CHU Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.
Attie-Bitach T; Imagine Institute, INSERM UMR1163, 75015, Paris, France.; Faculté de Médecine, Université de Paris Cité, 75015, Paris, France.; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Bongibault T; Imagine Institute, INSERM UMR1163, 75015, Paris, France.; Laboratoire 'Forme et Croissance du Crâne', Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.
Bouygues T; Imagine Institute, INSERM UMR1163, 75015, Paris, France.; Laboratoire 'Forme et Croissance du Crâne', Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.
Cormier-Daire V; Imagine Institute, INSERM UMR1163, 75015, Paris, France.; Faculté de Médecine, Université de Paris Cité, 75015, Paris, France.; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Corre P; Nantes Université, CHU Nantes, Service de chirurgie maxillo-faciale et stomatologie, 44000, Nantes, France.; Nantes Université, Oniris, UnivAngers, CHU Nantes, INSERM, Regenerative Medicine and Skeleton, RMeS, UMR 1229, 44000, Nantes, France.
Dieterich K; Univ. Grenoble Alpes, Inserm, U1209, IAB, CHU Grenoble Alpes, 38000, Grenoble, France.
Douillet M; Imagine Institute, INSERM UMR1163, 75015, Paris, France.
Feydy J; HeKA team, INRIA, 75012, Paris, France.
Galliani E; Service de chirurgie maxillo-faciale et chirurgie plastique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Centre de Référence des Malformations Rares de la Face et de la Cavité Buccale MAFACE, Filière Maladies Rares TeteCou, Paris, France.; Faculté de Médecine, Université de Paris Cité, 75015, Paris, France.
Giuliano F; MEDISYN Genetics, Lausanne, Switzerland.
Lyonnet S; Imagine Institute, INSERM UMR1163, 75015, Paris, France.; Faculté de Médecine, Université de Paris Cité, 75015, Paris, France.; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Picard A; Service de chirurgie maxillo-faciale et chirurgie plastique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Centre de Référence des Malformations Rares de la Face et de la Cavité Buccale MAFACE, Filière Maladies Rares TeteCou, Paris, France.; Faculté de Médecine, Université de Paris Cité, 75015, Paris, France.
Porntaveetus T; Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
Rio M; Imagine Institute, INSERM UMR1163, 75015, Paris, France.; Faculté de Médecine, Université de Paris Cité, 75015, Paris, France.; Service de médecine génomique des maladies rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Rouxel F; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Centre de référence anomalies du développement SOOR, INSERM U1183, Montpellier University, Montpellier, France.
Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Toutain A; Service de Génétique, CHU Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.
Yauy K; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Centre de référence anomalies du développement SOOR, INSERM U1183, Montpellier University, Montpellier, France.
Geneviève D; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Centre de référence anomalies du développement SOOR, INSERM U1183, Montpellier University, Montpellier, France.
Khonsari RH; Imagine Institute, INSERM UMR1163, 75015, Paris, France.; Service de chirurgie maxillo-faciale et chirurgie plastique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Centre de Référence des Malformations Rares de la Face et de la Cavité Buccale MAFACE, Filière Maladies Rares TeteCou, Paris, France.; Faculté de Médecine, Université de Paris Cité, 75015, Paris, France.; Laboratoire 'Forme et Croissance du Crâne', Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.
Garcelon N; Imagine Institute, INSERM UMR1163, 75015, Paris, France.
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Źródło:
Scientific reports [Sci Rep] 2024 Jan 28; Vol. 14 (1), pp. 2330. Date of Electronic Publication: 2024 Jan 28.
Typ publikacji:
Journal Article
MeSH Terms:
Artificial Intelligence*
Hematologic Diseases*/diagnosis
Hematologic Diseases*/genetics
Abnormalities, Multiple*
Vestibular Diseases*
Face/*abnormalities
Humans ; Mutation ; Retrospective Studies ; Phenotype ; Histone Demethylases/genetics ; Genotype
SCR Disease Name:
Kabuki syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
SOFT syndrome with kohlschutter-Tonz syndrome.
Autorzy:
Mondkar SA; Growth and Pediatric Endocrinology Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India.
Khadilkar V; Growth and Pediatric Endocrinology Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India.
Kasegaonkar P; Department of Neurology, CNS Hospital, Solapur, Maharashtra, India.
Khadilkar A; Growth and Pediatric Endocrinology Unit, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India.
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Źródło:
Journal of postgraduate medicine [J Postgrad Med] 2024 Jan-Mar; Vol. 70 (1), pp. 56-59.
Typ publikacji:
Case Reports
MeSH Terms:
Epilepsy*
Dementia*
Amelogenesis Imperfecta*/genetics
Abnormalities, Multiple*/genetics
Osteochondrodysplasias*/genetics
Dwarfism*/genetics
Dwarfism*/diagnosis
Symporters*
Male ; Infant, Newborn ; Humans ; Child, Preschool ; Cytoskeletal Proteins ; Cell Cycle Proteins
SCR Disease Name:
Kohlschutter Tonz syndrome
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.
Autorzy:
Li J; First School of Clinical Medical, Gansu University of Chinese Medicine, Lanzhou, China.; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Zhang C; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Tian X; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Zhou B; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Chen X; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Wang Y; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Hao S; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.
Hui L; First School of Clinical Medical, Gansu University of Chinese Medicine, Lanzhou, China.; Gansu Province Maternity and Child Health Care Hospital, Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou, China.; Department of Obstetrics, Gansu Province Maternity and Child Health Care Hospital, Lanzhou, China.
Meng Z; First School of Clinical Medical, Gansu University of Chinese Medicine, Lanzhou, China.; Department of Obstetrics, Gansu Province Maternity and Child Health Care Hospital, Lanzhou, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2304. Date of Electronic Publication: 2023 Dec 12.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Abnormalities, Multiple*/genetics
Calcinosis*/genetics
Ear Diseases*/genetics
Intellectual Disability*/genetics
Intellectual Disability*/diagnosis
Humans ; Male ; Muscular Atrophy/genetics ; Mutation ; Nerve Tissue Proteins/genetics ; Phenotype ; Syndrome ; Transcription Factors/genetics
SCR Disease Name:
Primrose syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome.
Autorzy:
Tian W; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Li H; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Li Y; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Guo J; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Wang H; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Yang B; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Li P; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Cui X; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Liu L; Prenatal Diagnosis Center, The Third Affiliated Hospital of Zhengzhou University, Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2325. Date of Electronic Publication: 2023 Dec 01.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/genetics
Abnormalities, Multiple*/genetics
Male ; Humans ; Mutation, Missense ; Phenotype ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.
Autorzy:
Zheng Z; Department of Otolaryngology, Ningbo Women and Children's Hospital, Ningbo, China.
Ding L; Department of Otolaryngology, Ningbo Women and Children's Hospital, Ningbo, China.
Wang M; Department of Otolaryngology, Ningbo Women and Children's Hospital, Ningbo, China.
Zhang Y; Department of Otolaryngology, Ningbo Women and Children's Hospital, Ningbo, China.
Yang Y; Department of Otolaryngology, Ningbo Women and Children's Hospital, Ningbo, China.
Tang M; Department of Otolaryngology, Ningbo Women and Children's Hospital, Ningbo, China.
Xu J; Department of Otolaryngology, Ningbo Yinzhou No.2 Hospital, Ningbo, China.
Wang L; Department of Radiology, Ningbo Medical Center Lihuili Hospital, Ningbo, China.
Wu J; Department of Otolaryngology, Ningbo Women and Children's Hospital, Ningbo, China.
Li H; The Central Laboratory of Birth Defects Prevention and Control, Ningbo Women and Children's Hospital, Ningbo, China.; Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, Ningbo Women and Children's Hospital, Ningbo, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2306. Date of Electronic Publication: 2023 Nov 03.
Typ publikacji:
Journal Article
MeSH Terms:
Abnormalities, Multiple*/genetics
Hearing Loss*/genetics
Hematologic Diseases*
Vestibular Diseases*
Face/*abnormalities
Infant, Newborn ; Female ; Humans ; Male ; Hearing/physiology ; Hearing Tests/methods
SCR Disease Name:
Kabuki syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Rare Case of Lung Hypoplasia, Cardiac Anomalies and Ovarian Tumour in a Patient with Mayer-Rokitansky-Küster-Hauser Syndrome.
Autorzy:
Upadhya P; Department of Pulmonary Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research, Puducherry, India.
Arpitha A; Department of Obstetrics and Gynaecology, Jawaharlal Institute of Postgraduate Medical Education & Research, Puducherry, India.
Sivaselvi C; Department of Pulmonary Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research, Puducherry, India.
Papa D; Department of Obstetrics and Gynaecology, Jawaharlal Institute of Postgraduate Medical Education & Research, Puducherry, India.
Vignesh K; Department of Pulmonary Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research, Puducherry, India.
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Źródło:
Sultan Qaboos University medical journal [Sultan Qaboos Univ Med J] 2023 Nov; Vol. 23 (4), pp. 556-559. Date of Electronic Publication: 2022 Sep 11.
Typ publikacji:
Case Reports
MeSH Terms:
Abnormalities, Multiple*/diagnosis
Heart Defects, Congenital*
Ovarian Neoplasms*
Female ; Humans ; Adult ; Lung/diagnostic imaging
SCR Disease Name:
Mullerian aplasia
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Novel variants identified in five Chinese families with Joubert Syndrome: a case report.
Autorzy:
Fang L; Pediatric Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, Hefei, 230000, China.
Wang L; Pediatric Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, Hefei, 230000, China.
Yang L; Pediatric Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, Hefei, 230000, China.
Xu X; Pediatric Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, Hefei, 230000, China.
Pei S; Pediatric Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, Hefei, 230000, China.
Wu; Pediatric Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, Hefei, 230000, China. derk_.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Sep 21; Vol. 16 (1), pp. 221. Date of Electronic Publication: 2023 Sep 21.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Abnormalities, Multiple*/genetics
Eye Abnormalities*/genetics
Kidney Diseases, Cystic*/genetics
Humans ; Cerebellum/diagnostic imaging ; East Asian People ; Membrane Proteins ; Phosphoric Monoester Hydrolases/genetics ; Retina ; Mutation
SCR Disease Name:
Agenesis of Cerebellar Vermis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Long-term multiple metabolic abnormalities among healthy and high-risk people following nonsevere COVID-19.
Autorzy:
Washirasaksiri C; Division of Ambulatory Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wang Lang Road, Bangkok Noi, Bangkok, 10700, Thailand.
Sayabovorn N; Division of Ambulatory Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wang Lang Road, Bangkok Noi, Bangkok, 10700, Thailand.
Ariyakunaphan P; Division of Ambulatory Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wang Lang Road, Bangkok Noi, Bangkok, 10700, Thailand.
Kositamongkol C; Division of Ambulatory Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wang Lang Road, Bangkok Noi, Bangkok, 10700, Thailand.
Chaisathaphol T; Division of Ambulatory Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wang Lang Road, Bangkok Noi, Bangkok, 10700, Thailand.
Sitasuwan T; Division of Ambulatory Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wang Lang Road, Bangkok Noi, Bangkok, 10700, Thailand.
Tinmanee R; Division of Ambulatory Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wang Lang Road, Bangkok Noi, Bangkok, 10700, Thailand.
Auesomwang C; Division of Ambulatory Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wang Lang Road, Bangkok Noi, Bangkok, 10700, Thailand.
Nimitpunya P; Division of Ambulatory Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wang Lang Road, Bangkok Noi, Bangkok, 10700, Thailand.
Woradetsittichai D; Department of Nursing, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Chayakulkeeree M; Division of Infectious Diseases and Tropical Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Phoompoung P; Division of Infectious Diseases and Tropical Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Mayurasakorn K; Siriraj Population Health and Nutrition Research Group, Department of Research Group and Research Network, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Sookrung N; Center of Research Excellence On Therapeutic Proteins and Antibody Engineering, Department of Parasitology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Tungtrongchitr A; Department of Parasitology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Wanitphakdeedecha R; Department of Dermatology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Muangman S; Department of Anesthesiology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Senawong S; Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Tangjittipokin W; Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Sanpawitayakul G; Division of Ambulatory Paediatrics, Department of Paediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Nopmaneejumruslers C; Division of Ambulatory Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wang Lang Road, Bangkok Noi, Bangkok, 10700, Thailand.
Vamvanij V; Department of Orthopaedic Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Phisalprapa P; Division of Ambulatory Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wang Lang Road, Bangkok Noi, Bangkok, 10700, Thailand.
Srivanichakorn W; Division of Ambulatory Medicine, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wang Lang Road, Bangkok Noi, Bangkok, 10700, Thailand. .
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Źródło:
Scientific reports [Sci Rep] 2023 Aug 31; Vol. 13 (1), pp. 14336. Date of Electronic Publication: 2023 Aug 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
COVID-19*/epidemiology
Abnormalities, Multiple*
Humans ; Female ; Adult ; Middle Aged ; Male ; COVID-19 Vaccines ; Prospective Studies ; C-Reactive Protein
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Male pseudohermaphroditism in a complex malformed calf born with an acardius amorphus cotwin-a case report.
Autorzy:
Kusaka H; Laboratory of Theriogenology, School of Veterinary Medicine, Kitasato University, Towada, Aomori, 034-8628, Japan.
Sugiyama M; Laboratory of Veterinary Anatomy, School of Veterinary Medicine, Kitasato University, Towada, Aomori, 034-8628, Japan.
Kameshima S; Laboratory of Small Animal Internal Medicine, School of Veterinary Medicine, Kitasato University, Towada, Aomori, 034-8628, Japan.
Kakizaki T; Laboratory of Veterinary Radiology and Radiation Biology, School of Veterinary Medicine, Kitasato University, Towada, Aomori, 034-8628, Japan.
Suzuki Y; Laboratory of Animal Hygiene, School of Veterinary Medicine, Kitasato University, Towada, Aomori, 034-8628, Japan.
Ando R; Laboratory of Veterinary Pathology, School of Veterinary Medicine, Kitasato University, Towada, Aomori, 034-8628, Japan.
Miura H; Laboratory of Theriogenology, School of Veterinary Medicine, Kitasato University, Towada, Aomori, 034-8628, Japan.
Kikuchi M; Veterinary Clinical Education Promotion Office, School of Veterinary Medicine, Kitasato University, Towada, Aomori, 034-8628, Japan.
Kawaguchi H; Laboratory of Veterinary Pathology, School of Veterinary Medicine, Kitasato University, Towada, Aomori, 034-8628, Japan. .
Sakaguchi M; Laboratory of Theriogenology, School of Veterinary Medicine, Kitasato University, Towada, Aomori, 034-8628, Japan. .
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Źródło:
BMC veterinary research [BMC Vet Res] 2023 Jul 18; Vol. 19 (1), pp. 86. Date of Electronic Publication: 2023 Jul 18.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Disorder of Sex Development, 46,XY*/veterinary
Abnormalities, Multiple*/veterinary
Heart Defects, Congenital*/veterinary
Cattle Diseases*
Male ; Animals ; Cattle ; Female ; In Situ Hybridization, Fluorescence/veterinary ; Genitalia, Female ; Rectum ; Vagina
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 2452

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