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Wyszukujesz frazę ""Intellectual Disability genetics"" wg kryterium: Temat


Tytuł :
7p21.3 Together With a 12p13.32 Deletion in a Patient With Microcephaly—Does 12p13.32 Locus Possibly Comprises a Candidate Gene Region for Microcephaly?
Autorzy :
Martina Rincic
Milan Rados
Janja Kopic
Zeljka Krsnik
Thomas Liehr
Pokaż więcej
Temat :
microcephaly
magnetic resonace imaging (MRI)
intellectual disabilitygenetics*
PRMT8
array comparative genetic hybridization (aCGH)
Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Źródło :
Frontiers in Molecular Neuroscience, Vol 14 (2021)
Opis pliku :
electronic resource
Relacje :
https://www.frontiersin.org/articles/10.3389/fnmol.2021.613091/full; https://doaj.org/toc/1662-5099
Dostęp URL :
https://doaj.org/article/b3c29206daa34abcaa7771d9868dbba2
Czasopismo naukowe
Tytuł :
Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review
Autorzy :
Su Jin Kim
Aram Yang
Ji Sun Park
Dae Gyu Kwon
Jeong-Seop Lee
Young Se Kwon
Ji Eun Lee
Pokaż więcej
Temat :
ANKRD11 gene
KBG syndrome
phenotype (mesh)
growth hormone
intellectual disabilitygenetics
Genetics
QH426-470
Źródło :
Frontiers in Genetics, Vol 11 (2020)
Opis pliku :
electronic resource
Relacje :
https://www.frontiersin.org/articles/10.3389/fgene.2020.579805/full; https://doaj.org/toc/1664-8021
Dostęp URL :
https://doaj.org/article/1da7252924544daf81ae45bc61441fbd
Czasopismo naukowe
Tytuł :
Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases
Autorzy :
Ana Rita Soares
Gabriela Soares
Manuela Mota-Freitas
Natália Oliva-Teles
Ana Maria Fortuna
Pokaż więcej
Temat :
Intellectual Disability/genetics
Subtelomeric Rearrangements Gene Rearrangement/genetics
Telomere/genetics
Medicine
Medicine (General)
R5-920
Źródło :
Acta Médica Portuguesa, Vol 32, Iss 7-8, Pp 529-535 (2019)
Opis pliku :
electronic resource
Relacje :
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466; https://doaj.org/toc/1646-0758
Dostęp URL :
https://doaj.org/article/724086fa16534922a3d9add6cb9ca66a
Czasopismo naukowe
Tytuł :
Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases
Rearranjos Subteloméricos: Apresentação de 21 Probandos, com Ênfase nos Casos Familiares
Autorzy :
Soares, A.
Soares, G.
Mota-Freitas, M.
Oliva-Teles, N.
Fortuna, A.
Pokaż więcej
Temat :
Intellectual Disability/genetics
Subtelomeric Rearrangements Gene Rearrangement/genetics
Telomere/genetics
Deficiência Intelectual/genética
Telómero/genética
Photography
Plagiocephaly
Telomere
Young Adult
Gene Rearrangement
Parents
Tytuł :
Is MED13L-related intellectual disability a recognizable syndrome?
Autorzy :
Tørring, Pernille Mathiesen
Larsen, Martin Jakob
Brasch-Andersen, Charlotte
Krogh, Lotte Nylandsted
Kibæk, Maria
Laulund, Lone
Illum, Niels
Dunkhase-Heinl, Ulrike
Wiesener, Antje
Popp, Bernt
Marangi, Giuseppe
Hjortshøj, Tina Duelund
Ek, Jakob
Vogel, Ida
Becher, Naja
Roos, Laura
Zollino, Marcella
Fagerberg, Christina Ringmann
Pokaż więcej
Temat :
Phenotype
Mediator Complex/genetics
MED13L
Developmental Disabilities/genetics
MED13L haploinsufficiency syndrome
Mutation
Syndrome
Craniofacial Abnormalities/genetics
Developmental delay
MED13L-related intellectual disability
Intellectual Disability/genetics
Female
Humans
Intellectual disability
Child, Preschool
Male
Child
Źródło :
Tørring, P M, Larsen, M J, Brasch-Andersen, C, Krogh, L N, Kibæk, M, Laulund, L, Illum, N, Dunkhase-Heinl, U, Wiesener, A, Popp, B, Marangi, G, Hjortshøj, T D, Ek, J, Vogel, I, Becher, N, Roos, L, Zollino, M & Fagerberg, C R 2019, ' Is MED13L-related intellectual disability a recognizable syndrome? ', European Journal of Medical Genetics, vol. 62, no. 2, pp. 129-136 . https://doi.org/10.1016/j.ejmg.2018.06.014
Opis pliku :
application/pdf
Tytuł :
De novo variants in neurodevelopmental disorders with epilepsy
Autorzy :
Heyne, Henrike O.
Singh, Tarjinder
Stamberger, Hannah
Abou Jamra, Rami
Caglayan, Hande
Craiu, Dana
De Jonghe, Peter
Guerrini, Renzo
Helbig, Katherine L.
Koeleman, Bobby P. C.
Kosmicki, Jack A.
Linnankivi, Tarja
May, Patrick
Muhle, Hiltrud
Moller, Rikke S.
Neubauer, Bernd A.
Palotie, Aarno
Pendziwiat, Manuela
Striano, Pasquale
Tang, Sha
Wu, Sitao
Poduri, Annapurna
Weber, Yvonne G.
Weckhuysen, Sarah
Sisodiya, Sanjay M.
Daly, Mark J.
Helbig, Ingo
Lal, Dennis
Lemke, Johannes R.
Lehesjoki, Anna-Elina
Pokaż więcej
Temat :
epilepsy
Genetics & genetic processes [F10] [Life sciences]
Génétique & processus génétiques [F10] [Sciences du vivant]
Neurodevelopmental disorders
PREVALENCE
Epilepsy/genetics
MUTATIONS
3111 Biomedicine
1184 Genetics, developmental biology, physiology
Genetic Testing/methods
TERMINOLOGY
SEQUENCE VARIANTS
AUTISM SPECTRUM DISORDER
Female
Intellectual Disability/genetics
Neurodevelopmental Disorders/genetics
Biology
Genetic Variation/genetics
KCNQ2 ENCEPHALOPATHY
HUMAN-DISEASE
Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, AUTISM SPECTRUM DISORDER, INTELLECTUAL DISABILITY, KCNQ2 ENCEPHALOPATHY, SEQUENCE VARIANTS, ILAE COMMISSION, HUMAN-DISEASE, MUTATIONS, CLASSIFICATION, TERMINOLOGY, PREVALENCE
CLASSIFICATION
Exome/genetics
Genetic Predisposition to Disease/genetics
ILAE COMMISSION
De novo variants
Humans
INTELLECTUAL DISABILITY
Human medicine
Male
Źródło :
Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu, D, De Jonghe, P, Guerrini, R, Helbig, K L, Koeleman, B P C, Kosmicki, J A, Linnankivi, T, May, P, Muhle, H, Møller, R S, Neubauer, B A, Palotie, A, Pendziwiat, M, Striano, P, Tang, S, Wu, S, Afawi, Z, De Kovel, C, Dimova, P, Djémié, T, Endziniene, M, Hoffman-Zacharska, D, Jähn, J, Korff, C, Lehesjoki, A E, Marini, C, Müller, S H, Pal, D, Schwarz, N, Selmer, K, Serratosa, J, Stephani, U, Štěrbová, K, Suls, A, Syrbe, S, Talvik, I, Tang, S, Von Spiczak, S, Zara, F, Poduri, A, Weber, Y G, Weckhuysen, S, Sisodiya, S M, Daly, M J & Helbig, I 2018, ' De novo variants in neurodevelopmental disorders with epilepsy ', Nature Genetics, vol. 50, no. 7, pp. 1048-1053 . https://doi.org/10.1038/s41588-018-0143-7
Nature Genetics, 50 (7) pp. 1048-1053. (2018)
bioRxiv. Cold Spring Harbor Labs Journals (2017).
Opis pliku :
pdf; text; application/pdf
Tytuł :
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Autorzy :
Jansen, Sandra
Hoischen, Alexander
Coe, Bradley P
Carvill, Gemma L
Van Esch, Hilde
Bosch, Daniëlle GM
Andersen, Ulla A
Baker, Carl
Bauters, Marijke
Bernier, Raphael A
van Bon, Bregje W
Claahsen-van der Grinten, Hedi L
Gecz, Jozef
Gilissen, Christian
Grillo, Lucia
Hackett, Anna
Kleefstra, Tjitske
Koolen, David
Kvarnung, Malin
Larsen, Martin J
Marcelis, Carlo
McKenzie, Fiona
Monin, Marie-Lorraine
Nava, Caroline
Schuurs-Hoeijmakers, Janneke H
Pfundt, Rolph
Steehouwer, Marloes
Stevens, Servi JC
Stumpel, Connie T
Vansenne, Fleur
Vinci, Mirella
van de Vorst, Maartje
Vries, Petra de
Witherspoon, Kali
Veltman, Joris A
Brunner, Han G
Mefford, Heather C
Romano, Corrado
Vissers, Lisenka ELM
Eichler, Evan E
de Vries, Bert BA
Pokaż więcej
Temat :
UBIQUITIN LIGASE
SCHIZOPHRENIA
Genetic Testing/methods
Syndrome
DE-NOVO MUTATIONS
AUTISM SPECTRUM DISORDERS
Female
Intellectual Disability/genetics
Sequence Analysis, DNA/methods
OF-FUNCTION MUTATIONS
GENES
DOMAIN-INTERACTING PROTEIN
Overweight/genetics
Article
Genotype
Reproducibility of Results
SIGNALING PATHWAYS
Haploinsufficiency
Intracellular Signaling Peptides and Proteins/genetics
DEVELOPMENTAL DELAY
Adolescent
Adult
Humans
Male
LINKED MENTAL-RETARDATION
Child
Źródło :
European Journal of Human Genetics, 26(1), 54. Nature Publishing Group
European Journal of Human Genetics, 26(1), 54 - 63
European Journal of Human Genetics, 26(1), 54 - 63. Nature Publishing Group
Jansen, S, Hoischen, A, Coe, B P, Carvill, G L, Van Esch, H, Bosch, D G M, Andersen, U A, Baker, C, Bauters, M, Bernier, R A, van Bon, B W, Claahsen-van der Grinten, H L, Gecz, J, Gilissen, C, Grillo, L, Hackett, A, Kleefstra, T, Koolen, D, Kvarnung, M, Larsen, M J, Marcelis, C, McKenzie, F, Monin, M-L, Nava, C, Schuurs-Hoeijmakers, J H, Pfundt, R, Steehouwer, M, Stevens, S J C, Stumpel, C T, Vansenne, F, Vinci, M, van de Vorst, M, Vries, P D, Witherspoon, K, Veltman, J A, Brunner, H G, Mefford, H C, Romano, C, Vissers, L E L M, Eichler, E E & de Vries, B B A 2018, ' A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency ', European Journal of Human Genetics, vol. 26, no. 1, pp. 54–63 . https://doi.org/10.1038/s41431-017-0039-5
Opis pliku :
Print-Electronic; application/pdf; image/pdf
Tytuł :
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
Autorzy :
Claudio Reggiani
Sandra Coppens
Tayeb Sekhara
Ivan Dimov
Bruno Pichon
Nicolas Lufin
Marie-Claude Addor
Elga Fabia Belligni
Maria Cristina Digilio
Flavio Faletra
Giovanni Battista Ferrero
Marion Gerard
Bertrand Isidor
Shelagh Joss
Florence Niel-Bütschi
Maria Dolores Perrone
Florence Petit
Alessandra Renieri
Serge Romana
Alexandra Topa
Joris Robert Vermeesch
Tom Lenaerts
Georges Casimir
Marc Abramowicz
Gianluca Bontempi
Catheline Vilain
Nicolas Deconinck
Guillaume Smits
Pokaż więcej
Temat :
ASPM
Sciences bio-médicales et agricoles
Developmental Disabilities -- genetics -- metabolism
NARP syndrome
Membrane Proteins -- genetics
Functional genomics
Tumor Suppressor Proteins -- genetics
centrosome
Neurodevelopmental disorders
Mice
Mitochondrial disease
Research
ATP6 deletion
DLG2
Intellectual disability
Promoters
Animals
Child
Developmental Disabilities
Female
Guanylate Kinases
Humans
Intellectual Disability
Male
Membrane Proteins
Tumor Suppressor Proteins
Exons
Promoter Regions, Genetic
Molecular Medicine
Molecular Biology
Genetics
Genetics (clinical)
QH426-470
primary microcephaly
Intellectual Disability -- genetics -- metabolism
brain development
brain imaging
Next generation sequencing
Medicine
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Complex V deficiency
Guanylate Kinases -- genetics
MCPH
Źródło :
Genome Medicine, Vol 9, Iss 1, Pp 1-20 (2017)
Genome Medicine, BioMed Central, 2017, 9, pp.67. ⟨10.1186/s13073-017-0452-y⟩
Opis pliku :
1 full-text file(s): application/pdf
Tytuł :
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition
Autorzy :
Hadjikhani, Nouchine
Hippolyte, Loyse
Maillard, Anne M.
Rodriguez-Herreros, Borja
Pain, Aurélie
Martin-Brevet, Sandra
Ferrari, Carina
Conus, Philippe
Macé, Aurélien
Metspalu, Andres
Reigo, Anu
Kolk, Anneli
Männik, Katrin
Barker, Mandy
Isidor, Bertrand
Le Caignec, Cédric
Mignot, Cyril
Schneider, Laurence
Mottron, Laurent
Keren, Boris
David, Albert
Doco-Fenzy, Martine
Gérard, Marion
Bernier, Raphael
Goin-Kochel, Robin P.
Hanson, Ellen
Green Snyder, LeeAnne
Ramus, Franck
Beckmann, Jacques S.
Draganski, Bogdan
Reymond, Alexandre
Jacquemont, Sébastien
Pokaż więcej
Temat :
Biological Psychiatry
Adolescent
Adult
Autistic Disorder/diagnostic imaging
Autistic Disorder/genetics
Autistic Disorder/physiopathology
Child
Child, Preschool
Chromosome Deletion
Chromosome Disorders/diagnostic imaging
Chromosome Disorders/genetics
Chromosome Disorders/physiopathology
Chromosome Duplication/genetics
Chromosomes, Human, Pair 16/genetics
Cognitive Dysfunction/diagnostic imaging
Cognitive Dysfunction/genetics
Cognitive Dysfunction/physiopathology
DNA Copy Number Variations/genetics
Executive Function/physiology
Female
Heterozygote
Humans
Intellectual Disability/diagnostic imaging
Intellectual Disability/genetics
Intellectual Disability/physiopathology
Intelligence/genetics
Language
Male
Memory/physiology
Middle Aged
Motor Skills/physiology
Pedigree
Young Adult
16p11.2
ASD
Copy number variation
Inhibition
Memory
Źródło :
Biological psychiatry, vol. 80, no. 2, pp. 129-139
Opis pliku :
application/pdf

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