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Wyszukujesz frazę ""Microcephaly genetics"" wg kryterium: Temat


Wyświetlanie 1-13 z 13
Tytuł :
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Index Terms :
Génétique clinique
Génétique cellulaire
Génétique moléculaire
Animals
Brain -- anatomy & histology
Chromosome Mapping
Exons -- genetics
Family
Female
Frameshift Mutation
Genes, Recessive
HeLa Cells -- cytology
Homozygote
Humans
Male
Mice
Microcephaly -- genetics
Mitotic Spindle Apparatus -- genetics
Mutation, Missense
Nerve Tissue Proteins -- genetics
Oligonucleotide Array Sequence Analysis -- methods
info:eu-repo/semantics/article
info:ulb-repo/semantics/articlePeerReview
info:ulb-repo/semantics/openurl/article
URL :
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/108777">http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/108777
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL">http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL
Zasób elektroniczny
Tytuł :
Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.
Index Terms :
Sciences bio-médicales et agricoles
Cerebral Cortex -- abnormalities
Child, Preschool
Chromosomes, Human, Pair 1 -- genetics
Codon, Nonsense
Consanguinity
Female
Frameshift Mutation
Humans
Infant, Newborn
Linkage (Genetics)
Magnetic Resonance Imaging
Male
Microcephaly -- genetics
Nerve Tissue Proteins -- genetics
Pedigree
Pregnancy
Sequence Analysis, DNA
Ultrasonography, Prenatal
Asymmetric cell division
Brain development
Genotype-phenotype correlation
Prenatal diagnosis
Primary microcephaly
info:eu-repo/semantics/article
info:ulb-repo/semantics/articlePeerReview
info:ulb-repo/semantics/openurl/article
URL :
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51324">http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51324
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL">http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL
Zasób elektroniczny
Tytuł :
Novel mutations in prenatal diagnosis of primary microcephaly.
Index Terms :
Sciences bio-médicales et agricoles
Female
Homozygote
Humans
Linkage (Genetics)
Microcephaly -- diagnosis
Microcephaly -- genetics
Mutation
Nerve Tissue Proteins -- genetics
Pregnancy
Prenatal Diagnosis
info:eu-repo/semantics/article
info:ulb-repo/semantics/articlePeerReview
info:ulb-repo/semantics/openurl/article
URL :
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53598">http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53598
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL">http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL
Zasób elektroniczny
Tytuł :
Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data.
Index Terms :
Sciences bio-médicales et agricoles
Adult
Child
Consanguinity
Family Health
Female
Humans
Linkage (Genetics)
Male
Microcephaly -- genetics
Microcephaly -- ultrasonography
Microsatellite Repeats
Pedigree
Pregnancy
Pregnancy Trimester, Second
Ultrasonography, Prenatal
ASPM
Brain development
MCPH5
Microcephaly
info:eu-repo/semantics/article
info:ulb-repo/semantics/articlePeerReview
info:ulb-repo/semantics/openurl/article
URL :
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53596">http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53596
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL">http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL
Zasób elektroniczny
Tytuł :
Des signaux mortels qui contrôlent la taille du cerveau
Index Terms :
Sciences bio-médicales et agricoles
Apoptosis -- genetics
Brain -- anatomy & histology
Brain -- growth & development
Cell Proliferation
Ephrins -- genetics
Ephrins -- physiology
Humans
Microcephaly -- genetics
Microcephaly -- physiopathology
Neurons -- physiology
info:eu-repo/semantics/article
info:ulb-repo/semantics/articlePeerReview
info:ulb-repo/semantics/openurl/article
URL :
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51856">http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51856
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL">http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL
Zasób elektroniczny
Tytuł :
A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly.
Index Terms :
Sciences bio-médicales et agricoles
Chromosome Banding
Chromosome Breakage -- genetics
Chromosomes, Human, Pair 1 -- genetics
Chromosomes, Human, Pair 4 -- genetics
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Microcephaly -- genetics
Microcephaly -- pathology
Mutation
Nerve Tissue Proteins -- genetics
Translocation, Genetic
Brain development
MCPH5
Mendelian cytogenetics
info:eu-repo/semantics/article
info:ulb-repo/semantics/articlePeerReview
info:ulb-repo/semantics/openurl/article
URL :
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53218">http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53218
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL">http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL
Zasób elektroniczny
Tytuł :
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32.
Index Terms :
Sciences bio-médicales et agricoles
Adult
Chromosome Breakage -- genetics
Chromosome Mapping
Chromosomes, Human, Pair 1 -- genetics
Female
Genes, Recessive -- genetics
Genetic Markers
Homozygote
Humans
Infant, Newborn
Linkage (Genetics) -- genetics
Lod Score
Male
Microcephaly -- genetics
Pedigree
Turkey -- ethnology
info:eu-repo/semantics/article
info:ulb-repo/semantics/articlePeerReview
info:ulb-repo/semantics/openurl/article
URL :
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53209">http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53209
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL">http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL
Zasób elektroniczny
Tytuł :
Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.
Index Terms :
Sciences bio-médicales et agricoles
Biochimie
Biologie
Biologie cellulaire
Biologie moléculaire
Biophysique
Sciences biomédicales
Sciences de la matière vivante
Adult
Chromosome Mapping
Chromosomes, Human, Pair 15 -- genetics
Genes, Recessive
Haplotypes
Heterozygote
Humans
Male
Microcephaly -- genetics
Pedigree
info:eu-repo/semantics/article
info:ulb-repo/semantics/articlePeerReview
info:ulb-repo/semantics/openurl/article
URL :
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/55570">http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/55570
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL">http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL
Zasób elektroniczny
Tytuł :
An apparently identical extra autosome in two severely retarded sisters with multiple malformations.
Autorzy :
GUSTAVSON KH
HAGBERG B
FINLEY SC
FINLEY WH
Pokaż więcej
Źródło :
Cytogenetics [Cytogenetics] 1962; Vol. 1, pp. 32-41.
Typ publikacji :
Journal Article
MeSH Terms :
Abnormalities, Multiple*
Chromosomes*
Heart Septal Defects*
Siblings*
Cleft Palate/*genetics
Ear/*abnormalities
Heart Septum/*abnormalities
Intellectual Disability/*genetics
Mandible/*abnormalities
Microcephaly/*genetics
Female ; Humans
Czasopismo naukowe
    Wyświetlanie 1-13 z 13

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