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Wyszukujesz frazę ""Developmental Disabilities/genetics"" wg kryterium: Temat


Wyświetlanie 1-12 z 12
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 :
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 :
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
Autorzy :
D’Angelo, Debra
Lebon, Sébastien
Chen, Qixuan
Martin-Brevet, Sandra
Snyder, LeeAnne Green
Hippolyte, Loyse
Hanson, Ellen
Maillard, Anne M.
Faucett, W. Andrew
Macé, Aurélien
Pain, Aurélie
Bernier, Raphael
Chawner, Samuel J. R. A.
David, Albert
Andrieux, Joris
Aylward, Elizabeth
Baujat, Genevieve
Caldeira, Ines
Conus, Philippe
Ferrari, Carrina
Forzano, Francesca
Gérard, Marion
Goin-Kochel, Robin P.
Grant, Ellen
Hunter, Jill V.
Isidor, Bertrand
Jacquette, Aurélia
Jønch, Aia E.
Keren, Boris
Lacombe, Didier
Caignec, Cédric Le
Martin, Christa Lese
Männik, Katrin
Metspalu, Andres
Mignot, Cyril
Mukherjee, Pratik
Owen, Michael J.
Passeggeri, Marzia
Rooryck-Thambo, Caroline
Rosenfeld, Jill A.
Spence, Sarah J.
Steinman, Kyle J.
Tjernagel, Jennifer
Van Haelst, Mieke
Shen, Yiping
Draganski, Bogdan
Sherr, Elliott H.
Ledbetter, David H.
van den Bree, Marianne B. M.
Beckmann, Jacques S.
Spiro, John E.
Reymond, Alexandre
Jacquemont, Sébastien
Chung, Wendy K.
Pokaż więcej
Temat :
Adolescent
Adult
Autism Spectrum Disorder/epidemiology
Autism Spectrum Disorder/genetics
Autistic Disorder/epidemiology
Autistic Disorder/genetics
Case-Control Studies
Cerebellum/abnormalities
Child
Child, Preschool
Chromosome Deletion
Chromosome Disorders/epidemiology
Chromosome Disorders/genetics
Chromosome Duplication
Chromosomes, Human, Pair 16/genetics
Cognition
Cohort Studies
Comorbidity
DNA Copy Number Variations
Developmental Disabilities/epidemiology
Developmental Disabilities/genetics
Epilepsy/epidemiology
Epilepsy/genetics
Female
Humans
Intellectual Disability/epidemiology
Intellectual Disability/genetics
Male
Microcephaly/epidemiology
Microcephaly/genetics
Middle Aged
Nervous System Malformations/epidemiology
Nervous System Malformations/genetics
Schizophrenia/epidemiology
Schizophrenia/genetics
Schizophrenic Psychology
Young Adult
Article
Human medicine
Źródło :
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
Opis pliku :
pdf; application/pdf
Tytuł :
15q11. 2 microdeletion (bp1-bp2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients
Autorzy :
Vanlerberghe, Clemence
Petit, Florence
Malan, Valerie
Vincent-Delorme, Catherine
Bouquillon, Sonia
Boute, Odile
Holder-Espinasse, Muriel
Delobel, Bruno
Duban, Benedicte
Vallee, Louis
Cuisset, Jean-Marie
Lemaitre, Marie-Pierre
Vantyghem, Marie-Christine
Pigeyre, Marie
Lanco-Dosen, Sandrine
Plessis, Ghislaine
Gerard, Marion
Decamp, Matthieu
Mathieu, Michele
Morin, Gilles
Jedraszak, Guillaume
Bilan, Frederic
Gilbert-Dussardier, Brigitte
Fauvert, Delphine
Roume, Joelle
Cormier-Daire, Valerie
Caumes, Roseline
Puechberty, Jacques
Genevieve, David
Sarda, Pierre
Pinson, Lucie
Blanchet, Patricia
Lemeur, Nathalie
Sheth, Frenny
Manouvrier-Hanu, Sylvie
Andrieux, Joris
Pokaż więcej
Temat :
Sciences du Vivant [q-bio]
NIPA2
BP1-BP2
15q11.2 microdeletion
Congenital heart disease
CYFIP1
NIPA1
TUBGCP5
Mesh:Phenotype
Mesh:Heart Diseases/congenital
Mesh:Female
Mesh:Cohort Studies
Mesh:Chromosomes
Mesh:Human
Mesh:Pair 15/genetics
Mesh:Chromosome Deletion
Mesh:Chromosome Aberrations
Mesh:Child
Mesh:Preschool
Mesh:Child Development Disorders
Mesh:Pervasive/genetics
Mesh:Heart Diseases/diagnosis
Mesh:Humans
Mesh:In Situ Hybridization
Mesh:Fluorescence
Mesh:Infant
Mesh:Intellectual Disability/diagnosis
Mesh:Intellectual Disability/genetics
Mesh:Heart Diseases/genetics
Mesh:Attention Deficit Disorder with Hyperactivity/genetics
Mesh:Adult
Mesh:Male
Mesh:Membrane Proteins/genetics
Mesh:Membrane Proteins/metabolism
Mesh:Mental Disorders/diagnosis
Mesh:Mental Disorders/genetics
Mesh:Microtubule-Associated Proteins/genetics
Mesh:Microtubule-Associated Proteins/metabolism
Mesh:Middle Aged
Mesh:Adolescent
Mesh:Adaptor Proteins
Mesh:Signal Transducing/metabolism
Mesh:Signal Transducing/genetics
Mesh:Speech Disorders/genetics
Mesh:Young Adult
Mesh:Epilepsy/genetics
Mesh:Epilepsy/diagnosis
Mesh:Developmental Disabilities/genetics
Mesh:Developmental Disabilities/diagnosis
Mesh:DNA Copy Number Variations
Mesh:Comparative Genomic Hybridization
Tytuł :
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Autorzy :
Zufferey, F
Sherr, E. H
Beckmann, N. D
Hanson, E
Maillard, A. M
Hippolyte, L
Macé, A
Ferrari, C
Kutalik, Z
Andrieux, J
Aylward, E
Barker, M
Bernier, R
Bouquillon, S
Conus, P
Delobel, B
Faucett, W. A
Goin-Kochel, R. P
Grant, E
Harewood, L
Hunter, J. V
Lebon, S
Ledbetter, D. H
Martin, C. L
Männik, K
Martinet, D
Mukherjee, P
Ramocki, M. B
Spence, S. J
Steinman, K. J
Tjernage, J
Spiro, J. E
Reymond, A
Beckmann, J. S
Chung, W. K
Jacquemont, S
Addor, M. C
Arveiler, B
Belfiore, M
Bena, F
Bernardini, L
Blanchet, P
Bonneau, D
Boute, O
Callier, P
Campion, D
Chiesa, J
Cordier, M. P
Cuisset, J. M
David, A
De Leeuw, N
De Vries, B
Didelot, G
Doco-Fenzy, M
Bedu, B. D
Dubourg, C
Dupuis-Girod, S
Fagerberg, C. R
Faivre, L
Fellmann, F
Fernandez, B. A
Fisher, R
Flori, E
Goldenberg, A
Heron, D
Holder, M
Hoyer, J
Isidor, B
Jaillard, S
Jonveaux, P
Joriot, S
Journel, H
Kooy, F
le Caignec, C
Leheup, B
Lemaitre, M. -P
Lewis, S
Malan, V
Mathieu-Dramard, M
Metspalu, A
Morice-Picard, F
Mucciolo, M
Oiglane-Shlik, E
Ounap, K
Pasquier, L
Petit, F
Philippe, A
Plessis, G
Prieur, F
Puechberty, J
Rajcan-Separovic, E
Rauch, A
Renieri, A
Rieubland, C
Rooryck, C
Rötzer, K. M
Ruiter, M
Sanlaville, D
Selmoni, S
Shen, Y
Siffredi, V
Thonney, J
Vallée, L
Van Binsbergen, E
Van der Aa, N
Van Haelst, M. M
Vigneron, J
Vincent-Delorme, C
Vittoria, D
Vulto-Van Silfhout, A. T
Witwicki, R. M
Zwolinski, S. A
Bowe, A
Beaudet, A. L
Brewton, C. M
Chu, Z
Dempsey, A. G
Evans, Y. L
Garza, S
Kanne, S. M
Laakman, A. L
Lasala, M. W
Llorens, A. V
Marzano, G
Moss, T. J
Nowell, K. P
Proud, M. B
Chen, Q
Vaughan, R
Berman, J
Blaskey, L
Hines, K
Kessler, S
Khan, S. Y
Qasmieh, S
Bibb, A. L
Paal, A. M
Page, P. Z
Smith-Packard, B
Buckner, R
Burko, J
Cavanagh, A. L
Cerban, B
Snow, A. V
Snyder, L. G
Keehn, R. M
Miller, D. T
Miller, F. K
Olson, J. E
Triantafallou, C
Visyak, N
Atwell, C
Benedetti, M
Fischbach, G. D
Greenup, M
Packer, A
Bukshpun, P
Cheong, M
Dale, C
Gobuty, S. E
Hinkley, L
Jeremy, R. J
Lee, H
Luks, T. L
Marco, E. J
Martin, A. J
Mcgovern, K. E
Nagarajan, S. S
Owen, J
Paul, B. M
Pojman, N. J
Sinha, T
Swarnakar, V
Wakahiro, M
Alupay, H
Aaronson, B
Ackerman, S
Ankenman, K
Elgin, J
Gerdts, J
Johnson, K
Reilly, B
Shaw, D
Stevens, A
Ward, T
Wenegrat, J
Roberts, T. P. L.
Pokaż więcej
Temat :
Adolescent
Adult
Body Mass Index
Child
Child Development Disorders, Pervasive/diagnosis
Child Development Disorders, Pervasive/genetics
Chromosome Deletion
Chromosomes, Human, Pair 16
Developmental Disabilities/diagnosis
Developmental Disabilities/genetics
Female
Gene Order
Heterozygote
Humans
Intelligence Tests
Male
Phenotype
Syndrome
Young Adult
Copy-Number Variation
Clinical genetics
Complex traits
[SDV]Life Sciences [q-bio]
Psychiatry
Obesity
Human medicine
Źródło :
Journal of Medical Genetics
Journal of medical genetics
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Opis pliku :
application/pdf; pdf
Tytuł :
Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats
Autorzy :
Stankiewicz, P.
Kulkarni, S.
Dharmadhikari, A.V.
Sampath, S.
Bhatt, S.S.
Shaikh, T.H.
Xia, Z.
Pursley, A.N.
Cooper, M.L.
Shinawi, M.
Paciorkowski, A.R.
Grange, D.K.
Noetzel, M.J.
Saunders, S.
Simons, P.
Summar, M.
Lee, B.
Scaglia, F.
Fellmann, F.
Martinet, D.
Beckmann, J.S.
Asamoah, A.
Platky, K.
Sparks, S.
Martin, A.S.
Madan-Khetarpal, S.
Hoover, J.
Medne, L.
Bonnemann, C.G.
Moeschler, J.B.
Vallee, S.E.
Parikh, S.
Irwin, P.
Dalzell, V.P.
Smith, W.E.
Banks, V.C.
Flannery, D.B.
Lovell, C.M.
Bellus, G.A.
Golden-Grant, K.
Gorski, J.L.
Kussmann, J.L.
McGregor, T.L.
Hamid, R.
Pfotenhauer, J.
Ballif, B.C.
Shaw, C.A.
Kang, S.H.
Bacino, C.A.
Patel, A.
Rosenfeld, J.A.
Cheung, S.W.
Shaffer, L.G.
Pokaż więcej
Temat :
Abnormalities, Multiple/genetics
Child
Child, Preschool
Chromosome Aberrations
Chromosome Mapping
Chromosomes, Human, Pair 10
DNA Copy Number Variations
Developmental Disabilities/complications
Developmental Disabilities/genetics
Female
Genetic Variation
Homologous Recombination
Humans
In Situ Hybridization, Fluorescence
Infant
Intellectual Disability/complications
Intellectual Disability/genetics
Male
Nerve Growth Factors/genetics
Oligonucleotide Array Sequence Analysis
Penetrance
Segmental Duplications, Genomic/genetics
Sequence Deletion
Vesicular Acetylcholine Transport Proteins/genetics
Article
Źródło :
Human Mutation, vol. 33, no. 1, pp. 165-179
Opis pliku :
application/pdf
    Wyświetlanie 1-12 z 12

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