Search Results - "Abnormalities, Multiple genetics"
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1
Authors: et al.
Contributors: et al.
Source: Eur J Hum Genet
European journal of human genetics, vol. 33, no. 1, pp. 72-79Subject Terms: Male, Heterozygote, Adolescent, DNA Copy Number Variations, RNA Splicing, Cell Cycle Proteins, Cerebellum / abnormalities, Abnormalities, Multiple / genetics, Article, Cytoplasmic Dyneins / genetics, Exome Sequencing, Kidney Diseases, Cystic / diagnosis, Humans, Child, Retina / abnormalities, Infant, Kidney Diseases, Cystic / genetics, Membrane Proteins, Eye Abnormalities / genetics, Retina / pathology, Abnormalities, Multiple / diagnosis, Cytoskeletal Proteins, Cytoskeletal Proteins [MeSH], Heterozygote [MeSH], Kidney Diseases, Cystic/genetics [MeSH], Abnormalities, Multiple/genetics [MeSH], Cytoplasmic Dyneins/genetics [MeSH], Cerebellum/abnormalities [MeSH], 631/208/2489/144, Cell Cycle Proteins [MeSH], RNA Splicing [MeSH], Infant [MeSH], Male [MeSH], Retina/abnormalities [MeSH], Eye Abnormalities/genetics [MeSH], Exome/genetics [MeSH], Retina/pathology [MeSH], Child [MeSH], Abnormalities, Multiple/diagnosis [MeSH], Cerebellum/pathology [MeSH], Adolescent [MeSH], Female [MeSH], Mutation [MeSH], 692/308/2056, Humans [MeSH], Membrane Proteins [MeSH], Exome Sequencing [MeSH], DNA Copy Number Variations [MeSH], Eye Abnormalities/diagnosis [MeSH], Kidney Diseases, Cystic/diagnosis [MeSH], article, Child, Preschool [MeSH], Eye Abnormalities / diagnosis, Cerebellum / pathology, Exome / genetics, Child, Preschool, Mutation, Kidney Diseases, Cystic/genetics, Kidney Diseases, Cystic/diagnosis, Abnormalities, Multiple/genetics, Abnormalities, Multiple/diagnosis, Cerebellum/abnormalities, Cerebellum/pathology, Eye Abnormalities/genetics, Eye Abnormalities/diagnosis, Retina/abnormalities, Retina/pathology, Female, Exome/genetics, Cytoplasmic Dyneins/genetics, Joubert syndrome, Pathogenic cryptic variants, exome data reanalysis
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Access URL: https://pubmed.ncbi.nlm.nih.gov/39394465
https://serval.unil.ch/notice/serval:BIB_0FE1AE2BBAEE
https://serval.unil.ch/resource/serval:BIB_0FE1AE2BBAEE.P001/REF.pdf
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https://hdl.handle.net/11573/1723554
https://doi.org/10.1038/s41431-024-01703-x
https://repository.publisso.de/resource/frl:6505503
https://urn.nsk.hr/urn:nbn:hr:105:344143
https://doi.org/10.1038/s41431-024-01703-x -
2
Authors: et al.
Source: Kato, K, Nishio, Y, McMillan, K J, Al-Maraghi, A, Kroes, H Y, Abdel-Hamid, M S, Jones, E, Shaw, S, Yoshida, A, Otsuji, S, Murofushi, Y, Aamer, W, Bhat, A A, AlRayahi, J, Al-Shabeeb Akil, A S, Aliyev, E, van Binsbergen, E, Janssen, E J, Mehrin, K M, Oishi, H, Kobayashi, R, Horii, T, Hatada, I, Saito, A, Hattori, M, Kawano, Y, Lewis, P A, Heesom, K J, Takarada, T, Sawamoto, K, Matsushita, M, Ogi, T, Butkovic, R, Danson, C, Wilkinson, K A, Fakhro, K A, Zaki, M S, Saitoh, S & Cullen, P J 2025, 'Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy', Science Translational Medicine, vol. 17, no. 805, eadt2426. https://doi.org/10.1126/scitranslmed.adt2426
Subject Terms: Mice, Phenotype, Mutation/genetics, Craniofacial Abnormalities/genetics, Abnormalities, Multiple/genetics, Multiple/genetics pathology, Sorting Nexins/metabolism, Humans, Animals, Endosomes/metabolism pathology, Endosomes/metabolism, Abnormalities, Craniofacial Abnormalities/genetics pathology
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3
Authors: et al.
Source: Prenatal diagnosis, vol. 44, no. 12, pp. 1526-1529
Subject Terms: Adult, Heterozygote, Fetal Growth Retardation, DNA Helicases, Nervous System Malformations, Ultrasonography, Prenatal, DEAD-box RNA Helicases, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Microcephaly, Humans, Female, Abnormalities, Multiple, DEAD-box RNA Helicases/genetics, Fetal Growth Retardation/genetics, Fetal Growth Retardation/diagnosis, Fetal Growth Retardation/diagnostic imaging, Microcephaly/genetics, Microcephaly/diagnosis, Microcephaly/diagnostic imaging, DNA Helicases/genetics, Abnormalities, Multiple/genetics, Abnormalities, Multiple/diagnosis, Abnormalities, Multiple/diagnostic imaging, Nervous System Malformations/genetics, Nervous System Malformations/diagnosis, Nervous System Malformations/diagnostic imaging, Prenatal Diagnosis/methods, DDX11, Warsaw Breakage Syndrome, cerebellar vermis hypoplasia, cohesinopathy, delayed sulcation, exome sequencing, intrahepatic portal‐systemic shunt, microcephaly, short corpus callosum
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4
Authors: et al.
Source: Hum Genet
Subject Terms: Male, 0301 basic medicine, 0303 health sciences, Micrognathism, Face/abnormalities [MeSH], Mutation [MeSH], Protein Aggregates [MeSH], Transcription Factors/genetics [MeSH], Abnormalities, Multiple/genetics [MeSH], Humans [MeSH], Intellectual Disability/genetics [MeSH], Micrognathism/genetics [MeSH], DNA-Binding Proteins/genetics [MeSH], DNA-Binding Proteins/metabolism [MeSH], Original Investigation, Hand Deformities, Congenital/genetics [MeSH], Male [MeSH], Neck/abnormalities [MeSH], Transcription Factors/metabolism [MeSH], 3. Good health, DNA-Binding Proteins, Protein Aggregates, 03 medical and health sciences, Intellectual Disability, Face, Mutation, Humans, Abnormalities, Multiple, Hand Deformities, Congenital, Neck, Transcription Factors
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5
Authors: et al.
Source: Graefes Arch Clin Exp Ophthalmol
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, vol. 262, no. 6, pp. 1737-1744Subject Terms: Male, Fundus Oculi, Visual Acuity, DNA, Hematologic Diseases, Multimodal Imaging, Neoplasm Proteins, 3. Good health, DNA-Binding Proteins, Macular Degeneration, Phenotype, Vestibular Diseases, Face, Electroretinography, Retinal Disorders, Humans, Abnormalities, Multiple, Female, Fluorescein Angiography, Vestibular Diseases/genetics, Vestibular Diseases/diagnosis, Vestibular Diseases/physiopathology, Face/abnormalities, Hematologic Diseases/genetics, Hematologic Diseases/diagnosis, Hematologic Diseases/physiopathology, Tomography, Optical Coherence/methods, Abnormalities, Multiple/genetics, Abnormalities, Multiple/diagnosis, Follow-Up Studies, Neoplasm Proteins/genetics, Fluorescein Angiography/methods, DNA-Binding Proteins/genetics, Macular Degeneration/genetics, Macular Degeneration/diagnosis, Macular Degeneration/physiopathology, Neck, DNA/genetics, Exome Sequencing, DNA Mutational Analysis, Macula Lutea/pathology, Time Factors, Adult, Adolescent, KMTD2 gene, Adaptive optics, Autofluorescence imaging, Dystrophy, Kabuki syndrome, Macula, Multimodal imaging, Retinal imaging, Tomography, Optical Coherence
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6
Authors: et al.
Source: Brief Bioinform
Cuvertino, S, Garner, T, Martirosian, E, Walusimbi, B, Kimber, S J, Banka, S & Stevens, A 2025, 'Higher order interaction analysis quantifies co-ordination in the epigenome revealing novel biological relationships in Kabuki syndrome', Briefings in Bioinformatics, vol. 26, no. 1, bbae667. https://doi.org/10.1093/bib/bbae667
Cuvertino, S, Garner, T, Martirosian, E, Walusimbi, B, Kimber, S J, Banka, S & Stevens, A 2024, ' Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome ', Briefings in Bioinformatics, vol. 26, no. 1 . https://doi.org/10.1093/bib/bbae667Subject Terms: Epigenomics, 0301 basic medicine, 0303 health sciences, Case Study, Hematologic Diseases/genetics, Epigenomics/methods, Face/abnormalities, DNA Methylation, Hematologic Diseases, Vestibular Diseases/genetics, Epigenesis, Genetic, Epigenome, 03 medical and health sciences, Genetic, Vestibular Diseases, Abnormalities, Multiple/genetics, Face, Multiple/genetics, Humans, Abnormalities, Multiple, CpG Islands, Gene Regulatory Networks, Abnormalities, Epigenesis
Access URL: https://pubmed.ncbi.nlm.nih.gov/39701600
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7
Authors: et al.
Contributors: et al.
Source: Huth, E A, Zhao, X, Owen, N, Luna, P N, Vogel, I, Dorf, I L H, Joss, S, Clayton-Smith, J, Louw, J J, Gewillig, M, Breckpot, J, Kraus, A, Sasaki, E, Kini, U, Burgess, T, Tan, T Y, Armstrong, R, Neas, K, Ferrero, G B, Brusco, A, Kerstjens-Frederikse, W S, Rankin, J, Helvaty, L R, Landis, B J, Geddes, G C, McBride, K L, Ware, S M, Shaw, C A, Lalani, S R, Rosenfeld, J A & Scott, D A 2023, 'Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return', European Journal of Human Genetics, vol. 31, no. 12, pp. 1430-1439. https://doi.org/10.1038/s41431-023-01451-4
Subject Terms: Heart Defects, Congenital, Medical Sciences, Cardiology, Diseases, Biomedical Informatics, Congenital, Cytogenetics, Mice, Abnormalities, Multiple/genetics, Genetics research, Exome Sequencing, Medical Specialties, Medicine and Health Sciences, and Immunity, Animals, Abnormalities, Multiple, DNA sequencing, Genetic Testing, Heart Defects, Biological Phenomena, Cell Phenomena, Scimitar Syndrome, Life Sciences, RNA-Binding Proteins, Genetics and Genomics, Cardiovascular genetics, RNA-Binding Proteins/genetics, 3. Good health, Computational biology and bioinformatics, Scimitar Syndrome/genetics, Cardiovascular Diseases, Medical Molecular Biology, Heart Defects, Congenital/diagnosis, Anomalous pulmonary venous return, exome sequencing 1q21.1, 15q11.2, 22q11.2, Abnormalities, Chromosome Deletion, Multiple, Medical Genetics
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Access URL: https://pubmed.ncbi.nlm.nih.gov/37673932
https://www.nature.com/articles/s41431-023-01451-4
https://doi.org/10.1038/s41431-023-01451-4
https://hdl.handle.net/2318/1946483
https://pure.au.dk/portal/en/publications/0658a04d-6f0f-410a-8e40-4fac1c629968
https://pmc.ncbi.nlm.nih.gov/articles/PMC10689790/pdf/41431_2023_Article_1451.pdf
https://doi.org/10.1038/s41431-023-01451-4 -
8
Authors: et al.
Contributors: et al.
Source: Clinical genetics, vol. 104, no. 2, pp. 230-237
Subject Terms: Hernia, Diaphragmatic, prenatal, notch signaling pathway, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Membrane Proteins, LFNG, spondylocostal dysostosis, Spine, 3. Good health, neonatal, splicing, respiratory distress, Humans, Spine/abnormalities, Abnormalities, Multiple/genetics, Hernia, Diaphragmatic/genetics, Alleles, T-Box Domain Proteins/genetics, Membrane Proteins/genetics, Intracellular Signaling Peptides and Proteins/genetics, exome sequencing, Abnormalities, Multiple, T-Box Domain Proteins, respiratory distre
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Access URL: https://pubmed.ncbi.nlm.nih.gov/37038048
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https://doi.org/10.1111/cge.14336
https://hdl.handle.net/20.500.14243/457935
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Authors: et al.
Source: Pediatr Surg Int
Pediatric surgery international, vol. 40, no. 1, pp. 136Subject Terms: Male, Infant, Newborn, Syndrome, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Humans, Hernia, Umbilical/genetics, Retrospective Studies, Female, Abnormalities, Multiple/genetics, Switzerland/epidemiology, Live Birth/genetics, Fetal Death/etiology, Registries, Anomalies, Classification, Defect, Omphalocele, Size, Original Article, Abnormalities, Multiple, Live Birth, Fetal Death, Hernia, Umbilical, Switzerland
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10
Authors: et al.
Contributors: et al.
Source: Hum Mol Genet
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, 'Natural history of KBG syndrome in a large European cohort', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142. https://doi.org/10.1093/hmg/ddac167
Human molecular genetics, Vol. 31, no.24, p. 4131-4142 (2022)
Human molecular genetics, vol. 31, no. 24, pp. 4131-4142Subject Terms: 0301 basic medicine, Bone Diseases, Developmental, Comparative Genomic Hybridization, European People, 0303 health sciences, Tooth Abnormalities, ta1184, ta1182, Facies, Dwarfism, adolescent, adult, anus atresia, anxiety, arachnoid cyst, Article, attention deficit hyperactivity disorder, autism, body height, bone age, brachydactyly, brain malformation, child, cleft palate, clinical article, clinical feature, clinodactyly, cohort analysis, comorbidity, comparative genomic hybridization, congenital malformation, craniofacial malformation, cryptorchism, differential diagnosis, electroencephalography, epilepsy, European, feeding difficulty, female, fetus echography, frameshift mutation, funnel chest, head circumference, hearing impairment, heart atrium septum defect, heart ventricle septum defect, high throughput sequencing, human, hydrocele, hypodontia, infant, intellectual impairment, KBG syndrome, kyphosis, Lennox Gastaut syndrome, macrodontia, male, mental instability, microcephaly, muscle hypotonia, newborn, nose, nuclear magnetic resonance imaging, oligodontia, otitis media, perception deafness, periventricular heterotopia, phenotype, pigeon thorax, preschool child, prevalence, problem behavior, RNA splicing, school child, short stature, single nucleotide polymorphism, skeleton malformation, strabismus, syndrome, tooth malformation, 3. Good health, Repressor Proteins, 03 medical and health sciences, Phenotype, Pregnancy, Female, Humans, Tooth Abnormalities/genetics, Bone Diseases, Developmental/genetics, Abnormalities, Multiple/genetics, Abnormalities, Multiple/diagnosis, Intellectual Disability/genetics, Intellectual Disability/diagnosis, Repressor Proteins/genetics, Dwarfism/genetics, Intellectual Disability, Original Article, Abnormalities, Multiple, 10. No inequality, KBG syndrome,exome ,array-cgh
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Access URL: https://pubmed.ncbi.nlm.nih.gov/35861666
http://hdl.handle.net/11588/893575
https://research.vumc.nl/en/publications/121a121e-274d-4a92-a2c3-edb9e22f08bd
https://hdl.handle.net/10281/467122
https://doi.org/10.1093/hmg/ddac167
https://hdl.handle.net/2078.1/279090
https://academic.oup.com/hmg/article/31/24/4131/6647925
https://doi.org/10.1093/hmg/ddac167
https://hdl.handle.net/11365/1220800
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https://doi.org/10.1093/hmg/ddac167
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https://hdl.handle.net/11697/248965
https://doi.org/10.1093/hmg/ddac167 -
11
Authors: et al.
Contributors: et al.
Source: J Med Genet
Journal of medical genetics, vol. 59, no. 9, pp. 888-894Subject Terms: Male, 0301 basic medicine, Repressor Proteins / genetics, Haploinsufficiency, Cerebellum / abnormalities, Abnormalities, Multiple / genetics, Congenital, Cerebellum / diagnostic imaging, Cerebellar diseases, Cerebellum, Eye Abnormalities, Neurogenetics, Retina / abnormalities, neonatal diseases and abnormalities, central nervous system diseases, cerebellar diseases, congenital, early diagnosis, genetic variation, hereditary, cerebellar disease, Kidney Diseases, Cystic / genetics, Eye Abnormalities / genetics, Kidney Diseases, Cystic, Early diagnosis, 3. Good health, Hereditary, Phenotype, early diagnosi, and neonatal diseases and abnormalities, Kidney Diseases, Abnormalities, Multiple, Central nervous system diseases, Human, Cerebellar Ataxia, central nervous system disease, Abnormalities, Multiple/genetics, Cerebellar Ataxia/genetics, Cerebellum/abnormalities, Cerebellum/diagnostic imaging, Eye Abnormalities/genetics, Haploinsufficiency/genetics, Humans, Intellectual Disability/genetics, Kidney Diseases, Cystic/diagnosis, Kidney Diseases, Cystic/genetics, Repressor Proteins/genetics, Retina/abnormalities, Haploinsufficiency / genetics, Retina, Cystic, 03 medical and health sciences, Intellectual Disability, Kidney Diseases, Cystic / diagnosis, Abnormalities, Multiple, Genetic variation, Intellectual Disability / genetics, and neonatal diseases and abnormalitie, Repressor Protein, Repressor Proteins, Eye Abnormalitie, Cerebellar Ataxia / genetics, And neonatal diseases and abnormalities
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Access URL: https://jmg.bmj.com/content/jmedgenet/early/2021/10/20/jmedgenet-2021-108114.full.pdf
https://pubmed.ncbi.nlm.nih.gov/34675124
https://moh-it.pure.elsevier.com/en/publications/sufu-haploinsufficiency-causes-a-recognisable-neurodevelopmental-
https://jmg.bmj.com/content/early/2021/10/20/jmedgenet-2021-108114
https://jmg.bmj.com/content/jmedgenet/early/2021/10/20/jmedgenet-2021-108114.full.pdf
https://pubmed.ncbi.nlm.nih.gov/34675124/
https://archive-ouverte.unige.ch/unige:170894
https://doi.org/10.1136/jmedgenet-2021-108114
https://serval.unil.ch/notice/serval:BIB_7731D4F15429
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12
Authors: et al.
Contributors: et al.
Source: Eur J Hum Genet
European journal of human genetics, vol. 29, no. 9, pp. 1384-1395Subject Terms: Adult, Male, 0301 basic medicine, Potassium Channels, Adolescent, Small-Conductance Calcium-Activated Potassium Channels, Nails, Malformed, Abnormalities, Multiple/genetics [MeSH], Gain of Function Mutation [MeSH], Abnormalities, Multiple/pathology [MeSH], Hallux/pathology [MeSH], Genetics research, Intellectual Disability/pathology [MeSH], Male [MeSH], Thumb/abnormalities [MeSH], Nails, Malformed/genetics [MeSH], Phenotype [MeSH], Channelopathies/pathology [MeSH], Child [MeSH], Craniofacial Abnormalities/pathology [MeSH], Adolescent [MeSH], Female [MeSH], Fibromatosis, Gingival/pathology [MeSH], Potassium Channels/genetics [MeSH], Adult [MeSH], Humans [MeSH], Intellectual Disability/genetics [MeSH], Thumb/pathology [MeSH], Channelopathies/genetics [MeSH], Paediatric neurological disorders, Nails, Malformed/pathology [MeSH], Hand Deformities, Congenital/pathology [MeSH], Hallux/abnormalities [MeSH], Small-Conductance Calcium-Activated Potassium Channels/genetics [MeSH], Article, Ether-A-Go-Go Potassium Channels/genetics [MeSH], Fibromatosis, Gingival/genetics [MeSH], Hand Deformities, Congenital/genetics [MeSH], Craniofacial Abnormalities/genetics [MeSH], Craniofacial Abnormalities, 03 medical and health sciences, Intellectual Disability, Genetics, Journal Article, Humans, Genetics(clinical), Abnormalities, Multiple, Child, 10. No inequality, Fibromatosis, Gingival, 0303 health sciences, Abnormalities, Multiple/genetics, Abnormalities, Multiple/pathology, Channelopathies/genetics, Channelopathies/pathology, Craniofacial Abnormalities/genetics, Craniofacial Abnormalities/pathology, Ether-A-Go-Go Potassium Channels/genetics, Female, Fibromatosis, Gingival/genetics, Fibromatosis, Gingival/pathology, Gain of Function Mutation, Hallux/abnormalities, Hallux/pathology, Hand Deformities, Congenital/genetics, Hand Deformities, Congenital/pathology, Intellectual Disability/genetics, Intellectual Disability/pathology, Nails, Malformed/genetics, Nails, Malformed/pathology, Phenotype, Potassium Channels/genetics, Small-Conductance Calcium-Activated Potassium Channels/genetics, Thumb/abnormalities, Thumb/pathology, Ether-A-Go-Go Potassium Channels, 3. Good health, Thumb, Hallux, Channelopathies, Hand Deformities, Congenital
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Access URL: https://www.nature.com/articles/s41431-021-00818-9.pdf
https://pubmed.ncbi.nlm.nih.gov/33594261
https://www.nature.com/articles/s41431-021-00818-9.pdf
https://khepri-node.dev.meta-infra.org/papers/syndromic-disorders-caused-by-gain-of-function/33594261
https://www.nature.com/articles/s41431-021-00818-9
https://www.ncbi.nlm.nih.gov/pubmed/33594261
https://research.rug.nl/nl/publications/syndromic-disorders-caused-by-gain-of-function-variants-in-kcnh1-
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440610
https://dspace.library.uu.nl/handle/1874/443300
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13
Authors: et al.
Source: Hum Genet
Whitman, M C, Barry, B J, Robson, C D, Facio, F M, Van Ryzin, C, Chan, W M, Lehky, T J, Thurm, A, Zalewski, C, King, K A, Brewer, C, Almpani, K, Lee, J S, Delaney, A, FitzGibbon, E J, Lee, P R, Toro, C, Paul, S M, Abdul-Rahman, O A, Webb, B D, Jabs, E W, Moller, H U, Larsen, D A, Antony, J H, Troedson, C, Ma, A, Ragnhild, G, Wirgenes, K V, Tham, E, Kvarnung, M, Maarup, T J, MacKinnon, S, Hunter, D G, Collins, F S, Manoli, I & Engle, E C 2021, 'TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy', Human Genetics, vol. 140, no. 12, pp. 1709-1731. https://doi.org/10.1007/s00439-021-02379-9Subject Terms: Adult, Male, 0301 basic medicine, Adolescent, Facial Paralysis, Arginine, Article, Ophthalmoplegia/diagnosis, Young Adult, 03 medical and health sciences, Tubulin, Abnormalities, Multiple/genetics, Humans, Abnormalities, Multiple, Histidine, Child, Facial Paralysis/diagnosis, Peripheral Nervous System Diseases/diagnosis, 0303 health sciences, Ophthalmoplegia, Fibrosis/diagnosis, Infant, Peripheral Nervous System Diseases, Syndrome, Fibrosis, 3. Good health, Amino Acid Substitution, Child, Preschool, Mutation, Female, Tubulin/genetics
Access URL: https://pubmed.ncbi.nlm.nih.gov/34652576
https://link.springer.com/article/10.1007/s00439-021-02379-9
https://www.ncbi.nlm.nih.gov/pubmed/34652576
https://europepmc.org/article/MED/34652576
https://experts.nebraska.edu/en/publications/tubb3-arg262his-causes-a-recognizable-syndrome-including-cfeom3-f
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8656246/pdf/nihms-1757235.pdf
https://pure.au.dk/portal/en/publications/631c97d2-eed9-4d79-a46d-e0d393fc41f5
https://doi.org/10.1007/s00439-021-02379-9
https://publications.scilifelab.se/publication/fe32db42a23d4b0493233edb03d30535 -
14
Authors: et al.
Contributors: et al.
Source: Hum Genet
Human GeneticsSubject Terms: Adult, Lung Diseases, Male, 0301 basic medicine, 0303 health sciences, Genome, Human, Organogenesis, Genetic Variation, Complete lung agenesis, Evolution, Molecular, SHH locus, 03 medical and health sciences, Fetus, Pregnancy, Cadaver, Humans, Abnormalities, Multiple, Female, Lung, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit, Female [MeSH], Lung/abnormalities [MeSH], Organogenesis/genetics [MeSH], Adult [MeSH], Abnormalities, Multiple/genetics [MeSH], Fetus [MeSH], Humans [MeSH], Molecular Medicine, Evolution, Molecular [MeSH], Genome, Human [MeSH], Original Investigation, Male [MeSH], Metabolic Diseases, Lung Diseases/genetics [MeSH], Gene Function, Cadaver [MeSH], Lung/growth, Genetic Variation [MeSH], Pregnancy [MeSH], Lung/ultrastructure [MeSH], Human Genetics, complex genomic rearrangement, neo‑TAD
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Access URL: https://link.springer.com/content/pdf/10.1007/s00439-021-02344-6.pdf
https://pubmed.ncbi.nlm.nih.gov/34436670
https://pubmed.ncbi.nlm.nih.gov/34436670/
https://link.springer.com/article/10.1007/s00439-021-02344-6
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460539
https://link.springer.com/content/pdf/10.1007/s00439-021-02344-6.pdf
https://www.ncbi.nlm.nih.gov/pubmed/34436670
https://resolver.sub.uni-goettingen.de/purl?gro-2/90169
http://hdl.handle.net/21.11116/0000-000A-02D5-3
http://hdl.handle.net/21.11116/0000-000A-02D7-1
https://repository.publisso.de/resource/frl:6446828 -
15
Authors: et al.
Source: Eur J Hum Genet
Subject Terms: Adult, 0301 basic medicine, 0303 health sciences, Micrognathism, Mutation, Missense, Brief Communication, Pedigree, SOXC Transcription Factors, 03 medical and health sciences, Phenotype, Face, Intellectual Disability, Humans, Abnormalities, Multiple, Female, Child, Hand Deformities, Congenital, Neck, ADHD, Face/abnormalities [MeSH], Female [MeSH], Adult [MeSH], Abnormalities, Multiple/genetics [MeSH], Humans [MeSH], Intellectual Disability/genetics [MeSH], Micrognathism/genetics [MeSH], Abnormalities, Multiple/pathology [MeSH], Mutation, Missense [MeSH], Hand Deformities, Congenital/pathology [MeSH], Intellectual Disability/pathology [MeSH], Autism spectrum disorders, Pedigree [MeSH], Hand Deformities, Congenital/genetics [MeSH], SOXC Transcription Factors/genetics [MeSH], Neck/abnormalities [MeSH], Face/pathology [MeSH], Phenotype [MeSH], Micrognathism/pathology [MeSH], Child [MeSH], Neck/pathology [MeSH]
Access URL: https://www.nature.com/articles/s41431-021-00865-2.pdf
https://pubmed.ncbi.nlm.nih.gov/33785884
https://www.nature.com/articles/s41431-021-00865-2.pdf
https://pubmed.ncbi.nlm.nih.gov/33785884/
https://www.nature.com/articles/s41431-021-00865-2
https://europepmc.org/article/MED/33785884
http://www-nature-com-443.webvpn.bjmu.tsg211.com/articles/s41431-021-00865-2
https://repository.publisso.de/resource/frl:6442784 -
16
Authors: et al.
Source: American Journal of Medical Genetics Part A. 185:453-460
Subject Terms: NICU, Male, Abnormalities, Multiple/diagnosis, newborns, Pédiatrie, Genetics & genetic processes, survival, Pediatrics, Sciences de la santé humaine, Infant, Newborn, Diseases, Génétique & processus génétiques, 03 medical and health sciences, 0302 clinical medicine, Abnormalities, Multiple/genetics, Intensive Care Units, Neonatal, Genetics, Humans, Abnormalities, Multiple, Human health sciences, Infant, Newborn, Diseases/genetics, Genetics (clinical), congenital anomalies, Infant, Newborn, Life sciences, Infant, Newborn, Diseases/diagnosis, 3. Good health, Hospitalization, Democratic Republic of the Congo/epidemiology, Infant, Newborn, Diseases/epidemiology, Sciences du vivant, Democratic Republic of the Congo, Abnormalities, Multiple/epidemiology, Female
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17
Authors: et al.
Contributors: et al.
Source: Hum Genet
Subject Terms: Male, 0301 basic medicine, Lymphokines, 0303 health sciences, Adolescent, Exons, Syndrome, 03 medical and health sciences, Phenotype, Intellectual Disability, Mutation, Animals, Humans, Protein Isoforms, Mutation/genetics [MeSH], Adolescent [MeSH], Lymphokines/genetics [MeSH], Exons/genetics [MeSH], Transcription Factors/genetics [MeSH], Abnormalities, Multiple/genetics [MeSH], Humans [MeSH], Syndrome [MeSH], Intellectual Disability/genetics [MeSH], Molecular Medicine, Animals [MeSH], Protein Isoforms/genetics [MeSH], Original Investigation, Male [MeSH], Metabolic Diseases, Gene Function, Phenotype [MeSH], Child [MeSH], Human Genetics, Abnormalities, Multiple, Technology Platforms, Child, 10. No inequality, Transcription Factors
File Description: application/pdf
Access URL: https://link.springer.com/content/pdf/10.1007/s00439-020-02175-x.pdf
https://pubmed.ncbi.nlm.nih.gov/32424618
https://link.springer.com/article/10.1007/s00439-020-02175-x?error=cookies_not_supported&code=e320f694-d204-4630-bf0a-e89fc778d3bc
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519918
https://link.springer.com/content/pdf/10.1007/s00439-020-02175-x.pdf
https://link.springer.com/article/10.1007/s00439-020-02175-x
https://www.ncbi.nlm.nih.gov/pubmed/32424618
https://pubmed.ncbi.nlm.nih.gov/32424618/
http://edoc.mdc-berlin.de/20554/7/20554suppl.zip
https://resolver.sub.uni-goettingen.de/purl?gro-2/70825
https://mbexc.uni-goettingen.de/literature/publications/184
https://repository.publisso.de/resource/frl:6469436 -
18
Authors: et al.
Contributors: et al.
Source: Genetics in Medicine. 22:389-397
Subject Terms: Male, 0301 basic medicine, Developmental Disabilities, Neurodevelopmental Disorders/genetics, chromatin remodeling, 12p13, Abnormalities, Multiple/genetics, Genetics(clinical), Child, Research Support, Non-U.S. Gov't, Musculoskeletal Abnormalities/genetics, Syndrome, Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, Heart Defects, Congenital/genetics, 3. Good health, [SDV] Life Sciences [q-bio], Phenotype, intellectual disability, Mutation, Missense/genetics, Child, Preschool, Female, Megalencephaly/genetics, Mi-2 Nucleosome Remodeling and Deacetylase Complex, Adult, Heart Defects, Congenital, missense, Adolescent, Genotype, Transcription Factors/genetics, Mi-2 Nucleosome Remodeling and Deacetylase Complex/genetics, 12p13.31, 03 medical and health sciences, Research Support, N.I.H., Extramural, Hearing Loss/genetics, Intellectual Disability, Journal Article, ATPase, Humans, Abnormalities, Multiple, Hearing Loss, Genetic Association Studies, Chromatin Assembly and Disassembly/genetics, Infant, Newborn, Infant, Research Support, N.I.H., Intramural, Chromatin Assembly and Disassembly, Intellectual Disability/genetics, Megalencephaly, Musculoskeletal Abnormalities, Developmental Disabilities/genetics
File Description: application/pdf
Access URL: https://www.nature.com/articles/s41436-019-0612-0.pdf
https://pubmed.ncbi.nlm.nih.gov/31388190
https://univ-angers.hal.science/hal-02616928v1
https://doi.org/10.1038/s41436-019-0612-0
https://www.nature.com/articles/s41436-019-0612-0/
https://www.nature.com/articles/s41436-019-0612-0.pdf
https://www.scilit.net/article/0ae4399b0fee62ed3d87c7a28eb19fa5
https://lilloa.univ-lille.fr/handle/20.500.12210/55442
http://www-nature-com-443.webvpn.bjmu.tsg211.com/articles/s41436-019-0727-3.pdf
https://pubmed.ncbi.nlm.nih.gov/31388190/
https://dspace.library.uu.nl/handle/1874/439804
https://hdl.handle.net/1887/3184937 -
19
Authors: et al.
Source: Portuguese Journal of Pediatrics, Vol 54, Iss 2 (2023)
Portuguese Journal of Pediatrics; Vol. 54 No. 2 (2023)
Portuguese Journal of Pediatrics; Vol. 54 N.º 2 (2023)Subject Terms: Craniofacial Abnormalities, Abnormalities, Multiple/diagnosis, Medicine (General), R5-920, Abnormalities, Multiple/genetics, HDE NEU PED, Growth Disorders/genetics, Child, Growth Disorders/diagnosis, Pediatrics, Intellectual Disability/genetics, RJ1-570, 3. Good health
File Description: application/pdf
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Authors: et al.
Contributors: et al.
Source: eLife
eLife, Vol 11 (2022)Subject Terms: 576.5, Male, 0301 basic medicine, Cell biology, oligogenism, Multifactorial Inheritance, Heredity, Mouse, heredity, QH301-705.5, Science, Sperm abnormalities, Abnormalities, Multiple / genetics, 03 medical and health sciences, Asthenozoospermia / genetics, Humans, Abnormalities, Multiple, Infertility, Male / genetics, Biology (General), [SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology, Infertility, Male, sperm abnormalities, 0303 health sciences, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Cell Biology, Spermatozoa, Asthenozoospermia, Infertility, Sperm Tail, Mutation, Oligogenism, MMAF, Medicine, infertility
File Description: application/pdf
Access URL: https://www.biorxiv.org/content/biorxiv/early/2021/11/16/2021.11.15.468601.full.pdf
https://pubmed.ncbi.nlm.nih.gov/35451961
https://doaj.org/article/50542f6b588b43b1b940b0989e0ff1de
https://biorxiv.org/content/10.1101/2021.11.15.468601v1.full.pdf
https://www.biorxiv.org/content/10.1101/2021.11.15.468601v1
https://cnrs.hal.science/hal-03818177v1/document
https://doi.org/10.7554/elife.75373
https://cnrs.hal.science/hal-03818177v1
https://archive-ouverte.unige.ch/unige:163382
https://doi.org/10.7554/elife.75373
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