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Wyszukujesz frazę ""Abnormalities, Multiple genetics"" wg kryterium: Temat


Tytuł :
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
Autorzy :
Kalbfleisch, Theodore S
Rice, Edward S
DePriest, Michael S Jr
Walenz, Brian P
Hestand, Matthew S
Vermeesch, Joris
O&apos
Fiddes, Ian T
Verschinina, Alisa O
Saremi, Nedda F
Petersen, Jessica L
Finno, Carrie J
Bellone, Rebecca R
McCue, Molly E
Brooks, Samantha A
Bailey, Ernest
Orlando, Ludovic
Green, Richard E
Antczak, Douglas F
MacLeod, James N
Pokaż więcej
Temat :
SIBLINGS
ZEB2
Intellectual Disability/diagnosis
Infant
Mowat-Wilson syndrome
Research Support, Non-U.S. Gov't
Zinc Finger E-box Binding Homeobox 2/genetics
Microcephaly/diagnosis
Genetics
Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2
SMAD-INTERACTING PROTEIN-1
Facies
Female
Child, Preschool
Phenotype
Biology and Life Sciences
Hirschsprung
Abnormalities, Multiple/genetics
Mowat–Wilson syndrome
Genotype
RECURRENCE
Mutation
BOX 1B GENE
management
SPECTRUM
Adolescent
CLINICAL-FEATURES
Journal Article
Hirschsprung Disease/diagnosis
Medicine and Health Sciences
HIRSCHSPRUNG-DISEASE
Adult
MENTAL-RETARDATION
Humans
Genetic Association Studies/methods
ZFHX1B MUTATIONS
DELINEATION
intellectual disability
Male
Child
Źródło :
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine, 20(9), 965 - 975
Opis pliku :
Electronic-eCollection; Print-Electronic; application/pdf; STAMPA
Tytuł :
Ventilação mecânica na síndrome de Coffin-Lowry: relato de caso
Mechanical ventilation in Coffin-Lowry syndrome: a case report
Autorzy :
Moura, Edmilson Bastos de
Moura, Érica Leal Teixeira de
Amorim, Fábio Ferreira
Oliveira, Vânia Maria
Pokaż więcej
Temat :
Síndrome de Coffin-Lowry/diagnóstico
Síndrome de Coffin-Lowry/terapia
Retardo mental ligado ao cromossomo x
Anormalidades múltiplas/genética
Relatos de casos
Coffin-Lowry syndrome/diagnosis
Coffin-Lowry syndrome/therapy
Mental retardation, X-linked
Abnormalities, multiple/genetics
Case reports
Źródło :
Revista Brasileira de Terapia Intensiva, Volume: 28, Issue: 4, Pages: 483-487, Published: DEC 2016
Opis pliku :
text/html
Tytuł :
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Autorzy :
Carvalho, Claudia M.B.
Vasanth, Shivakumar
Shinawi, Marwan
Russell, Chad
Ramocki, Melissa B.
Brown, Chester W.
Graakjaer, Jesper
Skytte, Anne-Bine
Vianna-Morgante, Angela M.
Krepischi, Ana C.V.
Patel, Gayle S.
Immken, LaDonna
Aleck, Kyrieckos
Lim, Cynthia
Cheung, Sau Wai
Rosenberg, Carla
Katsanis, Nicholas
Lupski, James R.
Pokaż więcej
Temat :
Retrospective Studies
Molecular Sequence Data
Smith-Magenis Syndrome
Genetics
Sequence Analysis, DNA
Syndrome
Adaptor Proteins, Signal Transducing
Flow Cytometry
Animals
Gene Dosage
Immunohistochemistry
Asialoglycoprotein Receptor
Base Sequence
Cell Line
Microtubule-Associated Proteins
Microcephaly
Phosphoproteins
Genetics(clinical)
Acyl-CoA Dehydrogenase, Long-Chain
Abnormalities, Multiple/genetics
Chromosomes, Human, Pair 17
Article
Abnormalities, Multiple
Chromosome Breakpoints
Chromosomes, Human, Pair 17/genetics
Zebrafish
Humans
Chromosome Deletion
Intellectual Disability
Źródło :
Carvalho, C M B, Vasanth, S, Shinawi, M, Russell, C, Ramocki, M B, Brown, C W, Graakjaer, J, Skytte, A-B, Vianna-Morgante, A M, Krepischi, A C V, Patel, G S, Immken, L, Aleck, K, Lim, C, Cheung, S W, Rosenberg, C, Katsanis, N & Lupski, J R 2014, ' Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes ' American Journal of Human Genetics, vol. 95, no. 5, pp. 565-78 . https://doi.org/10.1016/j.ajhg.2014.10.006
Repositório Institucional da FIOCRUZ
Tytuł :
Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13.
Autorzy :
Uwineza, Annette
PIERQUIN, Geneviève
GAILLEZ, Stephanie
JAMAR, Mauricette
CABERG, Jean-Hubert
BOURS, Vincent
Pokaż więcej
Temat :
Abnormalities, Multiple/genetics
Adolescent
Adult
Chromosomes, Human, Pair 13/genetics
Female
Fetal Diseases/genetics
Gestational Age
Humans
Karyotyping
Male
Pregnancy
Prenatal Diagnosis
Ring Chromosomes
Young Adult
Genetics & genetic processes [Life sciences]
Génétique & processus génétiques [Sciences du vivant]
Źródło :
Clinical, cytogenetic and molecular characterization of two cases of mosaic ring chromosome 13. Genetic counseling (Geneva, Switzerland), 24(2), 193-200., Switzerland. (2013).
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
Tytuł :
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
Autorzy :
Pasutto, Francesca
Sticht, Heinrich
Hammersen, Gerhard
Gillessen-Kaesbach, Gabriele
FitzPatrick, David R.
Nürnberg, Gudrun
Brasch, Frank
Schirmer-Zimmermann, Heidemarie
Tolmie, John L.
Chitayat, David
Houge, Gunnar
Fernández-Martínez, Lorena
Keating, Sarah
Mortier, Geert
Hennekam, Raoul C.M.
von der Wense, Axel
Slavotinek, Anne
Meinecke, Peter
Bitoun, Pierre
Becker, Christian
Nürnberg, Peter
Reis, André
Rauch, Anita
Pokaż więcej
Temat :
Mutation/genetics
Sequence Homology, Amino Acid
Membrane Proteins/metabolism
Infant, Newborn
Lung/abnormalities
Molecular Sequence Data
Infant
Capillaries/abnormalities
Receptors, Cell Surface/genetics
Hernia, Diaphragmatic/genetics
Genetics
Amino Acid Sequence
Female
Intellectual Disability/genetics
Phosphorylation
Genetics(clinical)
Heart Defects, Congenital/genetics
Pulmonary Alveoli/blood supply
Abnormalities, Multiple/genetics
Pedigree
Anophthalmos/genetics
Consanguinity
Lung/pathology
Report
Adolescent
Adult
Humans
Membrane Proteins/genetics
Male
Źródło :
Pasutto, F, Sticht, H, Hammersen, G, Gillessen-Kaesbach, G, Fitzpatrick, D R, Nürnberg, G, Brasch, F, Schirmer-Zimmermann, H, Tolmie, J L, Chitayat, D, Houge, G, Fernández-Martínez, L, Keating, S, Mortier, G, Hennekam, R C M, von der Wense, A, Slavotinek, A, Meinecke, P, Bitoun, P, Becker, C, Nürnberg, P, Reis, A & Rauch, A 2007, ' Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation ', American Journal of Human Genetics, vol. 80, no. 3, pp. 550-60 . https://doi.org/10.1086/512203
American journal of human genetics, 80(3), 550 - 560. Cell Press
Opis pliku :
application/pdf

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