المؤلفون: Michael M. Khayat, Jianhong Hu, Yunyun Jiang, He Li, Varuna Chander, Moez Dawood, Adam W. Hansen, Shoudong Li, Jennifer Friedman, Laura Cross, Emilia K. Bijlsma, Claudia A.L. Ruivenkamp, Francis H. Sansbury, Jeffrey W. Innis, Jessica Omark O’Shea, Qingchang Meng, Jill A. Rosenfeld, Kirsty McWalter, Michael F. Wangler, James R. Lupski, Jennifer E. Posey, David Murdock, Richard A. Gibbs

المصدر: HGG Advances, Vol 2, Iss 4, Pp 100049- (2021)

مصطلحات موضوعية: AHDC1, Xia-Gibbs syndrome, missense mutation, de novo mutation, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247721000300Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/2e89a4ca268f4c13b0e4310f9b45e168Test

المؤلفون: Diaz Ordoñez, L., Ramirez Montaño, D., Cruz, S., Pachajoa, H.

مصطلحات موضوعية: Síndrome de Xia-Gibbs, Trastornos genéticos, Gen AHDC1, Estudio de caso, Análisis cromosómico, Xia–Gibbs syndrome, Genetic disorders, AHDC1 gene, Case study

وصف الملف: application/pdf

العلاقة: European Journal of Human Genetics, 1476-5438, Abstracts from the 51st European Society of Human Genetics Conference: Electronic Posters, Jul; 27(Suppl 1), 2019, 954-55; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778822Test/; http://hdl.handle.net/20.500.12495/7383Test; instname:Universidad El Bosque; reponame:Repositorio Institucional Universidad El Bosque; repourl:https://repositorio.unbosque.edu.coTest

الإتاحة: https://doi.org/20.500.12495/7383Test
https://doi.org/10.1038/s41431-019-0408-3Test
https://hdl.handle.net/20.500.12495/7383Test

المؤلفون: Romano, Ferruccio, Falco, Mariateresa, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Lonardo, Fortunato, Torella, Annalaura, Digilio, Maria Cristina, Dentici, Maria Lisa, Alfieri, Paolo, Agolini, Emanuele, Novelli, Antonio, Garavelli, Livia, Accogli, Andrea, Striano, Pasquale, Scarano, Gioacchino, Nigro, Vincenzo, Scala, Marcello, Capra, Valeria

المساهمون: Romano, Ferruccio, Falco, Mariateresa, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Lonardo, Fortunato, Torella, Annalaura, Digilio, Maria Cristina, Dentici, Maria Lisa, Alfieri, Paolo, Agolini, Emanuele, Novelli, Antonio, Garavelli, Livia, Accogli, Andrea, Striano, Pasquale, Scarano, Gioacchino, Nigro, Vincenzo, Scala, Marcello, Capra, Valeria

مصطلحات موضوعية: AHDC1, DNA repair, Xia-Gibbs syndrome, genotype-phenotype correlation, loss-of-function variant, neurodevelopmental syndrome, DNA, DNA-Binding Protein, Epigenesis, Genetic, Genotype, Human, Phenotype, Abnormalities, Multiple, Intellectual Disability, Musculoskeletal Abnormalities

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000812626200001; volume:114; issue:13; firstpage:759; lastpage:767; numberofpages:9; journal:BIRTH DEFECTS RESEARCH; http://hdl.handle.net/11588/893574Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133680222

الإتاحة: https://doi.org/10.1002/bdr2.2058Test
http://hdl.handle.net/11588/893574Test

المؤلفون: Moez Dawood, James R. Lupski, Emilia K. Bijlsma, Michael M. Khayat, Shoudong Li, Jeffrey W. Innis, Jessica Omark O’Shea, Laura A Cross, Richard A. Gibbs, Jennifer Friedman, Francis H. Sansbury, Kirsty McWalter, Adam W. Hansen, Michael F. Wangler, Yunyun Jiang, Jill A. Rosenfeld, Jianhong Hu, David R. Murdock, Claudia A. L. Ruivenkamp, Jennifer E. Posey, He Li, Qingchang Meng, Varuna Chander

المصدر: Human Genetics and Genomics Advances, 2(4). ELSEVIER
HGG Advances, Vol 2, Iss 4, Pp 100049-(2021)
HGG advances

مصطلحات موضوعية: Genetics, AHDC1, Xia-Gibbs syndrome, In silico, missense mutation, Protein domain, Biology, QH426-470, medicine.disease, Phenotype, Hypotonia, Article, de novo mutation, Neurodevelopmental disorder, Speech delay, medicine, Molecular Medicine, Missense mutation, medicine.symptom, Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10fbd90ee0a13c134052c78fe5df8a3eTest
http://hdl.handle.net/1887/3564838Test

المؤلفون: Brian Nauheimer Andersen, Trine Bjørg Hammer, Niels Ove Illum, Dorte L Lildballe, Naja Becher, Lotte Andreasen, Mikkel Ø Andersen, Pernille Axel Gregersen, Jens Erik K Nielsen, Mette B Thorup, Christina Fagerberg, Emilie Erbs, Anders Bojesen, Charlotte Brasch-Andersen, Monica Zilmer, Soren L Faergeman, Maria Rasmussen

المصدر: Faergeman, S L, Bojesen, A B, Rasmussen, M, Becher, N, Andreasen, L, Andersen, B N, Erbs, E, Lildballe, D L, Nielsen, J E K, Zilmer, M, Hammer, T B, Andersen, M, Brasch-Andersen, C, Fagerberg, C R, Illum, N O, Thorup, M B & Gregersen, P A 2021, ' Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome : Five Danish patients with novel variants in AHDC1 ', European Journal of Medical Genetics, vol. 64, no. 9, 104280 . https://doi.org/10.1016/j.ejmg.2021.104280Test

مصطلحات موضوعية: Adult, Foot Deformities, Male, AHDC1, Adolescent, Developmental Disabilities, Biology, Frameshift mutation, Craniofacial Abnormalities, Loss of heterozygosity, Young Adult, Neurodevelopmental disorder, Intellectual disability, Genetics, medicine, Humans, Frameshift Mutation, Genetics (clinical), Exome sequencing, Genetic heterogeneity, Whole exome sequencing, Syndrome, General Medicine, medicine.disease, Phenotype, Hypotonia, DNA-Binding Proteins, Dysmorphism, Muscle Hypotonia, Female, medicine.symptom, Xia-gibbs syndrome, Reverse phenotyping

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2a837f458f7e2a5fd2ac2ccec4c7260Test
https://portal.findresearcher.sdu.dk/da/publications/3079a8e4-54f3-4794-9118-690af5b3853aTest

المؤلفون: Faergeman, Soren L., Bojesen, Anders B., Rasmussen, Maria, Becher, Naja, Andreasen, Lotte, Andersen, Brian N., Erbs, Emilie, Lildballe, Dorte L., Nielsen, Jens Erik K., Zilmer, Monica, Hammer, Trine Bjørg, Andersen, Mikkel, Brasch-Andersen, Charlotte, Fagerberg, Christina R., Illum, Niels O., Thorup, Mette B., Gregersen, Pernille A.

المصدر: Faergeman , S L , Bojesen , A B , Rasmussen , M , Becher , N , Andreasen , L , Andersen , B N , Erbs , E , Lildballe , D L , Nielsen , J E K , Zilmer , M , Hammer , T B , Andersen , M , Brasch-Andersen , C , Fagerberg , C R , Illum , N O , Thorup , M B & Gregersen , P A 2021 , ' Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome : Five Danish patients with novel variants in AHDC1 ' , ....

مصطلحات موضوعية: AHDC1, Dysmorphism, Reverse phenotyping, Whole exome sequencing, Xia-gibbs syndrome

العلاقة: https://pure.au.dk/portal/da/publications/phenotypic-heterogeneity-and-mosaicism-in-xiagibbs-syndromeTest(13a270cc-3718-4690-a558-995275d1ab84).html

الإتاحة: https://doi.org/10.1016/j.ejmg.2021.104280Test
https://pure.au.dk/portal/da/publications/phenotypic-heterogeneity-and-mosaicism-in-xiagibbs-syndromeTest(13a270cc-3718-4690-a558-995275d1ab84).html
http://www.scopus.com/inward/record.url?scp=85109430816&partnerID=8YFLogxKTest

المؤلفون: Mubungu, Gerrye, Makay, Prince, Boujemla, Bouchra, Yanda, Stephane, Posey, Jennifer E., Lupski, James R., Bours, Vincent, Lukusa, Prosper, Devriendt, Koenraad, Lumaka, Aimé

المصدر: American Journal of Medical Genetics. Part A (2020)

مصطلحات موضوعية: AHDC1, Face2Gene, Xia-Gibbs syndrome, corpus callosum, tremor, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: urn:issn:1552-4825; urn:issn:1552-4833; https://orbi.uliege.be/handle/2268/257136Test; info:hdl:2268/257136; scopus-id:2-s2.0-85098151949; info:pmid:33372375

الإتاحة: https://doi.org/10.1002/ajmg.a.62049Test
https://orbi.uliege.be/handle/2268/257136Test

المؤلفون: Aleksiūnienė, Beata, Tumienė, Birutė, Utkus, Algirdas

المصدر: European human genetics conference 2018 in conjunction with the European meeting on psychosocial aspects of genetics, Milan, Italy, June 16 - 19, Milan : ESHG, 2018, abstract no. E-P11.09, p. [1]

مصطلحات موضوعية: 1p36.11p35.3 microdeletion, AHDC1, developmental delay, congenital heart defect

العلاقة: http://vu.lvb.lt/VU:ELABAPDB30054379&prefLang=en_USTest

الإتاحة: http://vu.lvb.lt/VU:ELABAPDB30054379&prefLang=en_USTest

المؤلفون: Ed S. Lein, Trygve E. Bakken, Allison M. Lake, Evan E. Eichler, Holly A.F. Stessman, Arvis Sulovari, Raphael Bernier, Madeleine R. Geisheker, Joseph D. Dougherty, Fereydoun Hormozdiari, Bradley P. Coe

المصدر: Nature genetics, vol 51, iss 1
Nature genetics

مصطلحات موضوعية: ENO3, Developmental Disabilities, GRIN2B, POGZ, CASK, GATAD2B, Mice, 0302 clinical medicine, ADAP1, SMARCA4, TRIO, SMARCA2, KCNH1, CTNNB1, ANP32A, Aetiology, MEF2C, ADNP, KIF1A, KCNQ2, EP300, KCNQ3, 0303 health sciences, EHMT1, CNKSR2, Intracellular Signaling Peptides and Proteins, CAPN15, CREBBP, SRCAP, DLG4, MYT1L, PPP1CB, CSNK2A1, MED13L, PPP2R1A, ZBTB18, WAC, HNRNPU, STXBP1, SYNGAP1, SOX5, HECW2, NONO, Mi-2 Nucleosome Remodeling and Deacetylase Complex, ASH1L, SCN8A, AHDC1, SLC6A1, DNA Copy Number Variations, AGO4, Intellectual and Developmental Disabilities (IDD), SMARCD1, FOXP1, USP9X, MEIS2, Article, EFTUD2, PUF60, BRAF, ANKRD11, GABRB2, 03 medical and health sciences, CUL3, SMC1A, SATB2, BCL11A, Intellectual Disability, IQSEC2, Genetics, WDR26, TBL1XR1, Humans, Autistic Disorder, Polymorphism, DLX3, TCF4, MSL3, Chromosome Aberrations, TCF20, KIAA2022, EEF1A2, de novo Mutation, Chromosome, SUV420H1, DYRK1A, COL4A3BP, SETD5, CTCF, CHD3, medicine.disease, CHD2, CAPRIN1, MAP2K1, NAA10, Neurodevelopmental Disorders, HDAC8, Mutation, KDM5B, DNMT3A, SNX5, CHAMP1, HIVEP3, NAA15, 030217 neurology & neurosurgery, TMEM178A, Developmental Biology, ZMYND11, PTEN, TNPO2, Autism, PTPN11, ASXL3, Medical and Health Sciences, CHD8, SYNCRIP, Gene duplication, QRICH1, Missense mutation, 2.1 Biological and endogenous factors, Exome, Copy-number variation, SHANK3, Pediatric, GNAI1, WDR45, Single Nucleotide, KMT2A, Biological Sciences, PPM1D, Phenotype, MECP2, PPP2R5D, TLK2, PACS1, Genetics of Developmental Delay, DDX3X, MBD5, PACS2, FOXG1, SET, RAC1, Biotechnology, KANSL1, NFIX, SNAPC5, SETBP1, PURA, Biology, KAT6B, KAT6A, NSD1, Polymorphism, Single Nucleotide, UPF3B, medicine, TAF1, Animals, TRIP12, Gene, 030304 developmental biology, ITPR1, DYNC1H1, Neurosciences, GNAO1, PIK3CA, ARID1B, Brain Disorders, LEO1, SCN2A, CDK13

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52475f0e976717c1add8cd80fc01021bTest
https://escholarship.org/uc/item/5630j7d2Test

المؤلفون: Carvalho, Laura Machado Lara

المساهمون: Koiffmann, Celia Priszkulnik, Krepischi, Ana Cristina Victorino, Mendes, Tiago Antônio de Oliveira, Rosenberg, Carla

مصطلحات موضوعية: zebrafish, síndrome de Xia-Gibbs, obesidade sindrômica, iPSC, AHDC1, diagnóstico genético, deficiência intelectual, Xia-Gibbs syndrome, syndromic obesity, genetic diagnosis, intellectual disability

وصف الملف: application/pdf

العلاقة: https://www.teses.usp.br/teses/disponiveis/41/41131/tde-23032023-174554Test/

الإتاحة: https://doi.org/10.11606/T.41.2023.tde-23032023-174554Test
https://www.teses.usp.br/teses/disponiveis/41/41131/tde-23032023-174554Test/