نتائج البحث - "genomic disorders"

1

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

المصدر: Clinical Genetics. 92:415-422

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Adolescent, DNA Copy Number Variations, Developmental Disabilities, CNV, autism spectrum disorder, Biology, Chromosomal Position Effects, Young Adult, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Child, genomic disorders, Gene, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Chromosome Aberrations, Comparative Genomic Hybridization, array-CGH, developmental delay, intellectual disability, Infant, Genomics, medicine.disease, Phenotype, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Autism spectrum disorder, Child, Preschool, Cohort, Female, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a801c78f604f6776fe5565bea502f4Test
https://doi.org/10.1111/cge.13009Test

2

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

المؤلفون: N Morrison, Marjolein H. Willemsen, Helger G. Yntema, John Tolmie, N. de Leeuw, Willy M. Nillesen, Gea Beunders, Tjitske Kleefstra, Han G. Brunner, M Callaghan, S T M Keijzers-Vloet, A W M Nieuwint, Alexander Hoischen, J M van Hagen

المساهمون: Human genetics, Other Research

المصدر: Willemsen, M H, Beunders, G, Callaghan, M, de Leeuw, N, Nillesen, W M, Yntema, H G, van Hagen, J M, Nieuwint, A W M, Morrison, N, Keijzers-Vloet, S T M, Hoischen, A, Brunner, H G, Tolmie, J & Kleefstra, T 2011, ' Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions ', Clinical Genetics, vol. 80, no. 1, pp. 31-38 . https://doi.org/10.1111/j.1399-0004.2010.01607.xTest
Clinical Genetics, 80(1), 31-38. Wiley-Blackwell
Clinical Genetics, 80, 1, pp. 31-8
Clinical Genetics, 80, 31-8

مصطلحات موضوعية: Male, Proband, Euchromatin, EHMT1 Gene, Chromosomal translocation, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], EHMT1, Genetics, OMIM : Online Mendelian Inheritance in Man, Humans, Abnormalities, Multiple, Language Development Disorders, Multiplex ligation-dependent probe amplification, Child, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Sequence Deletion, Kleefstra Syndrome, Mosaicism, Infant, Histone-Lysine N-Methyltransferase, Syndrome, Effective primary care and public health [NCEBP 7], Telomere, Molecular biology, Child, Preschool, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Muscle Hypotonia, Female, Chromosomes, Human, Pair 9, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f209a7a2d604877a0d5b2e8087df48ffTest
https://hdl.handle.net/2066/97912Test

3

Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan

المؤلفون: Khan, M., Ajmal, M., Micheal, S., Azam, M., Hussain, A., Shahzad, A., Venselaar, H., Bokhari, H., Wijs, I.J. de, Hoefsloot, L.H., Waheed, N., Collin, R.W.J., Hollander, A.I. den, Qamar, R., Cremers, F.P.M.

المصدر: Clinical Genetics, 84, 290-3
Clinical Genetics, 84, 3, pp. 290-3

مصطلحات موضوعية: Chemical and physical biology [NCMLS 7], Genetics and epigenetic pathways of disease [NCMLS 6], Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d9a8e52178eddca93e8268306e986915Test
https://hdl.handle.net/2066/118540Test

4

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

المساهمون: Michigan State University [East Lansing], Michigan State University System, University of Iowa [Iowa City], University of Padua [Italy], Freiburg University Medical Center, Institute of Human Genetics [Cologne], University of Cologne-Universitätsklinikum Köln (Uniklinik Köln), Centro de Biologia Molecular e Engenharia Genética (CBMEG), Universidade Estadual de Campinas (UNICAMP), Radboud University Medical Center [Nijmegen], Institute of Human Genetics, Universität Ulm - Ulm University [Ulm, Allemagne], Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Université européenne de Bretagne - European University of Brittany (UEB), Laboratoire de Génétique Moléculaire et d'Histocompatibilité [Brest], Hôpital Morvan [Brest]-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Immunologie et Pathologie (EA2216), Université de Brest (UBO)-IFR148, Department of Biomedical Sciences, Department of Medical genetics, University of Antwerp (UA), This work was supported by NIDCD grant DC004568 to K. H. F., an MSU Foundation grant to R. A. F. and a Families and Communities Together Coalition grant to J. E. R. J. H. S is the Sterba Hearing Research Professor at University of Iowa College of Medicine, who supported the project in part with National Institutes of Health (NIH)–National Institute on Deafness and Other Communication Disorders (NIDCD) grant DC02842., We are grateful to the many MSU‐DF5 family members for their participation. E. W. thanks Dr Patrick J. Venta for critical reading of the manuscript.

المصدر: Clinical Genetics, 78, 267-74
Clinical Genetics, 78, 3, pp. 267-74
Clinical genetics
Clinical Genetics
Clinical Genetics, Wiley, 2010, 78 (3), pp.267-274. ⟨10.1111/j.1399-0004.2010.01387.x⟩

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], [SDV]Life Sciences [q-bio], Penetrance, MESH: Base Sequence, Regulatory Sequences, Nucleic Acid, sensorineural hearing loss, Connexins, MESH: Genotype, MESH: Hearing Loss, Sensorineural/diagnosis, MESH: Penetrance, Genotype, Copy-number variation, Genetics (clinical), Sequence Deletion, Genetics, Comparative Genomic Hybridization, 0303 health sciences, MESH: Genetic Testing, MESH: Gene Expression Regulation, 030305 genetics & heredity, GJB2, Pedigree, Connexin 26, MESH: Sequence Deletion, MESH: Hearing Loss, Sensorineural/genetics, Female, Chromosome Deletion, Functional Neurogenomics [DCN 2], GJB6, MESH: Pedigree, MESH: Chromosome Deletion, Hearing Loss, Sensorineural, Molecular Sequence Data, connexin 26,connexin 30,DFNB1,gene expression regulation,GJB2,GJB6,sensorineural hearing loss,sequence deletion, Biology, MESH: Connexin 30, MESH: Connexins/genetics, MESH: Sequence Homology, Nucleic Acid, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Monoallelic Mutation, MESH: Connexin 26, Sequence Homology, Nucleic Acid, Connexin 30, otorhinolaryngologic diseases, Humans, Genetic Testing, Allele, Gene, MESH: Regulatory Sequences, Nucleic Acid/genetics, Alleles, DFNB1, 030304 developmental biology, Family Health, MESH: Humans, MESH: Molecular Sequence Data, Base Sequence, Chromosomes, Human, Pair 13, MESH: Alleles, Breakpoint, MESH: Male, MESH: Comparative Genomic Hybridization, Gene Expression Regulation, MESH: Family Health, biology.protein, Human medicine, MESH: Chromosomes, Human, Pair 13/genetics, MESH: Female

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d81a22f13f414b1582a35773d0e8a9c0Test
https://doi.org/10.1111/j.1399-0004.2010.01387.xTest

5

X-linked mental retardation: further lumping, splitting and emerging phenotypes

المؤلفون: Kleefstra, T., Hamel, B.C.J.

المصدر: Clinical Genetics, 67, 451-67
Clinical Genetics, 67, 6, pp. 451-67

مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], congenital, hereditary, and neonatal diseases and abnormalities, Genetic defects of metabolism [UMCN 5.1], Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::26b9abc4f90f91a2ea6f17d7ed8d7903Test
https://hdl.handle.net/2066/47375Test

6

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation

المؤلفون: Kleefstra, T., Rosenberg, E.H., Salomons, G.S., Stroink, H., Bokhoven, J.H.L.M. van, Hamel, B.C.J., Vries, L.B.A. de

المصدر: Clinical Genetics, 68, 4, pp. 379-81
Clinical Genetics, 68, 379-81

مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics and epigenetic pathways of disease [NCMLS 6], Genetic defects of metabolism [UMCN 5.1], Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e47b453605383a921381e9b257b9027bTest
https://doi.org/10.1111/j.1399-0004.2005.00489.xTest

7

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum

المؤلفون: Frans A. Hol, Hans Scheffer, Han G. Brunner, C. van den Elzen, O.F. Brouwer, M.J. Olderode-Berends, M.G. van Pampus, J.H.L.M. van Bokhoven, J. van Reeuwijk, Tony Roscioli

المساهمون: Science in Healthy Ageing & healthcaRE (SHARE)

المصدر: Clinical Genetics, 78(3), 275-281. Wiley
Clinical Genetics, 78, 3, pp. 275-81
Clinical Genetics, 78, 275-81

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Codon, Initiator, Walker, Gene mutation, medicine.disease_cause, Compound heterozygosity, fkrp, Severity of Illness Index, DISEASE, Fatal Outcome, start codon mutation, Muscular dystrophy, Genetics (clinical), Genetics, Mutation, Fukutin-related protein, biology, Homozygote, Walker-Warburg Syndrome, cobblestone lissencephaly, Pedigree, Congenital muscular dystrophy, Female, Functional Neurogenomics [DCN 2], ALPHA-DYSTROGLYCAN, GENE-MUTATIONS, EXPRESSION, Lissencephaly, dystroglycan, Genomic disorders and inherited multi-system disorders [IGMD 3], medicine, Humans, ABNORMAL GLYCOSYLATION, Pentosyltransferases, Walker–Warburg syndrome, MDC1C, Base Sequence, Siblings, Infant, Newborn, Proteins, fukutin-related protein, medicine.disease, Warburg syndrome, CONGENITAL MUSCULAR-DYSTROPHY, biology.protein, O-linked glycosylation, DEFECTIVE GLYCOSYLATION, MENTAL-RETARDATION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08d974d47fe552eee34f449f866d1a35Test
https://pubmed.ncbi.nlm.nih.gov/20236121Test

8

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome

المؤلفون: P. Howard, B. B. A. De Vries, Jill Clayton-Smith, B. Beckett, U. Maye, Sahar Mansour, Bronwyn Kerr, Alan Fryer, Dian Donnai, M. Heidenblad, Shane McKee, Elizabeth Sweeney, May Tassabehji, Shehla Mohammed, Ruth Day

المصدر: Clinical Genetics, 74, 5, pp. 434-44
Clinical Genetics, 74, 434-44

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae5f70a2536a53f3db15b9880a45b83dTest
https://pubmed.ncbi.nlm.nih.gov/19659891Test

9

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

المؤلفون: E J Kamsteeg, R Davidson, L. Van Maldergem, Johan J.P. Gille, C A Lasham, Yvonne Hilhorst-Hofstee, C M F Kneepkens, E A J Peeters, Erik A. Sistermans, C M P Peeters-Scholte, F.H. Menko, Aggie W. M. Nieuwint, L Rozendaal, Y M Heins, N. de Leeuw, M C Jansweijer

المساهمون: Pediatric surgery, Pathology, Human genetics, CCA - Oncogenesis

المصدر: Clinical Genetics, 74, 145-54
Menko, F H, Kneepkens, C M F, de Leeuw, N, Peeters, E A, van Maldergem, L, Kamsteeg, E J, Davidson, R, Rozendaal, L, Lasham, C A, Peeters-Scholte, C M, Jansweijer, M C, Hilhorst-Hofstee, Y, Gille, J J P, Heins, Y M, Nieuwint, A W M & Sistermans, E A 2008, ' Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes ', Clinical Genetics, vol. 74, no. 2, pp. 145-154 . https://doi.org/10.1111/j.1399-0004.2008.01026.xTest
Clinical Genetics, 74, 2, pp. 145-54
Clinical Genetics, 74(2), 145-154. Wiley-Blackwell

مصطلحات موضوعية: Male, Tumor suppressor gene, Colorectal cancer, Gastrointestinal Diseases, Bioinformatics, Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, Genetics, medicine, PTEN, Humans, Abnormalities, Multiple, Age of Onset, Genetics (clinical), Bone Morphogenetic Protein Receptors, Type I, Oligonucleotide Array Sequence Analysis, Sequence Deletion, biology, Chromosomes, Human, Pair 10, Intestinal Polyposis, Macrocephaly, Infant, Newborn, PTEN Phosphohydrolase, Infant, medicine.disease, Phenotype, BMPR1A, Genetic defects of metabolism [UMCN 5.1], Child, Preschool, biology.protein, Cancer research, Female, Age of onset, medicine.symptom, Colorectal Neoplasms, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c6e490374227344b19c1dd13a5dc768Test
https://pubmed.ncbi.nlm.nih.gov/18510548Test

10

The modular nature of genetic diseases

المؤلفون: Martin Oti, Hg G. Brunner

المصدر: Clinical Genetics, 71, 1-11
Clinical Genetics, 71, 1, pp. 1-11

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bada84893eee58c2cb433cf440268b7Test
https://pubmed.ncbi.nlm.nih.gov/17204041Test

تنقيح النتائج