Search Results - "X-Linked: genetics"

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations

Authors: Jeanne, Médéric Ronce, Nathalie Remizé, Solène et al.

Source: ISSN: 0022-2593 ; Journal of medical genetics, vol. 62, no. 4 (2025) p. 258-267.

Subject Terms: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Humans, Male, Guanine Nucleotide Exchange Factors / genetics, Phenotype, Child, Abnormalities, Multiple / genetics, Multiple / pathology, Multiple / diagnosis, Multiple / therapy, Hand Deformities, Congenital / genetics, Congenital / therapy, Congenital / pathology, Congenital / diagnosis, Dwarfism / genetics, Dwarfism / therapy, Dwarfism / pathology, Dwarfism / diagnosis, Preschool, Adolescent, Genetic Diseases, X-Linked / genetics, Heart Defects, Adult, Infant, Face / abnormalities

Relation: info:eu-repo/semantics/altIdentifier/pmid/39798962; unige:188980

Availability: https://archive-ouverte.unige.ch/unige:188980

SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

Authors: Barbier, Mathieu Camuzat, Agnès el Hachimi, Khalid et al.

Contributors: Barbier, Mathieu Camuzat, Agnès el Hachimi, Khalid et al.

Source: The French clinical and genetic Research network on FTLD/FTLD-ALS and PREVDEMALS, The International Frontotemporal Dementia Genomics Consortium, The European Early Onset Dementia (EU-EOD) Consortium, Brainbank Neuro-CEB Neuropathology Network & Neurological Tissue Bank of the Biobank Hospital Clinic-IDIBAPS 2021, 'SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration', Brain, vol. 144, no. 9, pp. 2798-2811. https://doi.org/10.1093/brain/awab171
Brain

Subject Terms: Male, 0301 basic medicine, amyotrophic lateral sclerosis, MESH: Frontotemporal Lobar Degeneration / epidemiology, CHROMOSOME, TDP-43, X-Linked / genetics, frontotemporal dementia, Cohort Studies, C9orf72 Protein / genetics, Degeneration / genetics, Genes, X-Linked, C9orf72, 80 and over, Nerve Tissue Proteins / genetics, Age of Onset, Genome-Wide Association Study / methods, Single Nucleotide / genetics, Aged, 80 and over, 0303 health sciences, DEMENTIA, ASSOCIATION, EXPANSION, Middle Aged, 3. Good health, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Frontotemporal Lobar, Frontotemporal dementia, SLITRK2, Frontotemporal Lobar Degeneration / diagnosis, Adult, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, 03 medical and health sciences, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Polymorphism, Aged, Membrane Proteins / genetics, MESH: Humans, HEXANUCLEOTIDE REPEAT, C9orf72 Protein, MUTATIONS, Membrane Proteins, MESH: Adult, Amyotrophic lateral sclerosis, Genes, TMEM106B, TAU, ALS, Frontotemporal Lobar Degeneration, Genome-Wide Association Study

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/34687211
https://pure.eur.nl/en/publications/21c24665-a8af-4872-8e79-a75f35655fc1
https://doi.org/10.1093/brain/awab171
https://www.ncbi.nlm.nih.gov/pubmed/34687211
https://academic.oup.com/brain/article/144/9/2798/6408768
https://research.vumc.nl/en/publications/05b0395c-07c7-4b7c-b7dc-7e1517b922e8
https://discovery-pp.ucl.ac.uk/id/eprint/10146667/

MECP2 duplication syndrome initially misdiagnosed as cerebral palsy: a case report

Authors: Tae-Yong Kim Su-Ji Lee Kyung-Min Kim et al.

Contributors: Tae-Yong Kim Su-Ji Lee Kyung-Min Kim et al.

Source: J Int Med Res

Subject Terms: Male, Adult, cerebral palsy, MECP2 duplication syndrome, X-Linked* / diagnosis, Methyl-CpG-Binding Protein 2, Cerebral Palsy, Cerebral Palsy* / genetics, Methyl-CpG-Binding Protein 2 / genetics, Case Reports, neurodevelopmental disorder, 3. Good health, Cerebral Palsy* / diagnosis, Rett syndrome, Mental Retardation, X-Linked* / genetics, Intellectual Disability, X-Linked Intellectual Disability, differential diagnosis, Intellectual Disability* / genetics, Humans, next-generation sequencing, Diagnostic Errors

Access URL: https://pubmed.ncbi.nlm.nih.gov/36988314

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online

Authors: Schorderet, D. F. Tiab, L. Gaillard, M. C. et al.

Subject Terms: Chromosome Mapping Cytoskeletal Proteins/*genetics Genetic Diseases, X-Linked/*genetics Humans Membrane Proteins/*genetics *Mutation Nystagmus, Congenital/*genetics

Relation: Human Mutation: Variation, Informatics and Disease; https://iris.unil.ch/handle/iris/60881; serval:BIB_4494122E8A70

Availability: https://iris.unil.ch/handle/iris/60881
https://doi.org/10.1002/humu.9492

Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)

Authors: Feldmeyer, L. Mevorah, B. Grzeschik, K. H. et al.

Subject Terms: Adult Base Sequence Chondrodysplasia Punctata/*genetics/pathology Female Frameshift Mutation Humans Ichthyosis, X-Linked/*genetics/pathology Infant, Newborn Steroid Isomerases/genetics

Relation: British Journal of Dermatology; https://iris.unil.ch/handle/iris/53559; serval:BIB_4FE36232BA2D; 000235891300035

Availability: https://iris.unil.ch/handle/iris/53559
https://doi.org/10.1111/j.1365-2133.2006.07137.x

Validation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome.

Authors: Maity-Kumar, Gandhari Ständer, Lisa Fuchs, Helmut et al.

Source: Molecular metabolism 66, 101616 - (2022). doi:10.1016/j.molmet.2022.101616

Subject Terms: info:eu-repo/classification/ddc/610, Animals, Mice, Monocarboxylic Acid Transporters: genetics, Symporters: genetics, Mental Retardation, X-Linked: genetics, Thyroid Hormones, Allan-Herndon Dudley Syndrome, Energy metabolism, Mct8, Motor coordination, Myelination, Oatp1c1, Thyroid hormone

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/2212-8778; info:eu-repo/semantics/altIdentifier/pmid/pmid:36270613; https://pub.dzne.de/record/165526

Availability: https://pub.dzne.de/record/165526
https://pub.dzne.de/search?p=id:%22DZNE-2022-01672%22

Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene

Authors: Rego, T Gomez Lado, C Cabanas Rodríguez, P et al.

Source: Hormones. 16:194-199

Subject Terms: Mental Retardation, X-Linked / genetics, Male, Monocarboxylic Acid Transporters, Muscle Hypotonia / genetics, Developmental Disabilities, Dyskinesias / diagnosis, Mutation, Missense, Muscle Hypotonia / diagnosis, Quadriplegia, Muscular Atrophy / diagnosis, Intellectual Disability / diagnosis, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, X-Linked Intellectual Disability, Humans, Muscular Atrophy / genetics, Monocarboxylic Acid Transporters / genetics, Child, Intellectual Disability / genetics, Thyrotoxicosis / diagnosis, Dyskinesias, Developmental Disabilities / diagnosis, Symporters, Quadriplegia / diagnosis, Dyskinesias / genetics, Thyrotoxicosis / genetics, 3. Good health, Developmental Disabilities / genetics, Muscular Atrophy, Thyrotoxicosis, Mental Retardation, X-Linked / diagnosis, Muscle Hypotonia, Quadriplegia / genetics, HCC END

Access URL: https://pubmed.ncbi.nlm.nih.gov/28742507
https://europepmc.org/abstract/MED/28742507
https://pubmed.ncbi.nlm.nih.gov/28742507/
https://www.ncbi.nlm.nih.gov/pubmed/28742507
https://link.springer.com/content/pdf/10.14310/horm.2002.1733.pdf
https://link.springer.com/article/10.14310%2Fhorm.2002.1733
http://hdl.handle.net/10400.17/4712

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

Authors: Patat, Olivier Pagin, Adrien Siegfried, Aurore et al.

Contributors: Patat, Olivier Pagin, Adrien Siegfried, Aurore et al.

Source: The American Journal of Human Genetics. 99:437-442

Subject Terms: Male, 0301 basic medicine, MESH: Pedigree, G-Protein-Coupled / genetics, DNA Mutational Analysis, MESH: Exome / genetics, Cystic Fibrosis Transmembrane Conductance Regulator, Receptors, G-Protein-Coupled, 03 medical and health sciences, Vas Deferens, Male Urogenital Diseases, Genes, X-Linked, MESH: Receptors, Genetics, Humans, Genetics(clinical), Exome, MESH: DNA Mutational Analysis, [SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology, MESH: Vas Deferens / abnormalities, X-Linked / genetics, 0303 health sciences, MESH: Humans, MESH: Male Urogenital Diseases / genetics, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, MESH: Gene Deletion, MESH: Cystic Fibrosis Transmembrane Conductance Regulator / genetics, MESH: Genes, MESH: Male, Pedigree, Female, MESH: Female, Gene Deletion

Access URL: http://www.cell.com/article/S0002929716302154/pdf
https://pubmed.ncbi.nlm.nih.gov/27476656
https://europepmc.org/abstract/MED/27476656
https://www.cell.com/ajhg/fulltext/S0002-9297(16)30215-4
https://www.ncbi.nlm.nih.gov/pubmed/27476656
https://www.cell.com/ajhg/pdf/S0002-9297(16)30215-4.pdf
https://www.sciencedirect.com/science/article/pii/S0002929716302154
https://www.sciencedirect.com/science/article/abs/pii/S0002929716302154

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Authors: Ragge, Nicola Isidor, Bertrand Bitoun, Pierre et al.

Contributors: Ragge, Nicola Isidor, Bertrand Bitoun, Pierre et al.

Source: ISSN: 0340-6717.

Subject Terms: MESH: Abnormalities, Multiple / genetics, MESH: Adolescent, MESH: Humans, MESH: Infant, MESH: Proto-Oncogene Proteins / genetics, MESH: Male, MESH: Microphthalmos / genetics, MESH: Phenotype, MESH: Repressor Proteins / genetics, MESH: Adult, MESH: Syndrome, MESH: X Chromosome Inactivation / genetics, MESH: Child, Preschool, MESH: Young Adult, MESH: Cataract / congenital, MESH: Cataract / genetics, MESH: Chromosomes, Human, X / genetics, MESH: Genetic Variation / genetics, MESH: Eye Abnormalities / genetics, MESH: Female, MESH: Genes, X-Linked / genetics, MESH: Heart Septal Defects / genetics, MESH: Heterozygote, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs

Relation: info:eu-repo/semantics/altIdentifier/pmid/29974297; PUBMED: 29974297; WOS: 000482786200019

Availability: https://univ-rennes.hal.science/hal-01863370
https://univ-rennes.hal.science/hal-01863370v1/document
https://univ-rennes.hal.science/hal-01863370v1/file/Ragge_Expanding%20the%20phenotype%20of%20BCOR.pdf
https://doi.org/10.1007/s00439-018-1896-x

A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.

Authors: Jensen, Lars R Garrett, Lillian Aguilar-Pimentel, Juan Antonio et al.

Source: Biochimica et biophysica acta / Molecular basis of disease 1865(9), 2083-2093 (2019). doi:10.1016/j.bbadis.2018.12.011

Subject Terms: info:eu-repo/classification/ddc/610, Animals, Behavior, Animal, Cognition Disorders: etiology, Cognition Disorders: pathology, Disease Models, Family, Female, Intellectual Disability: etiology, Intellectual Disability: pathology, Male, Mental Retardation, X-Linked: genetics, Methyltransferases: genetics, Methyltransferases: metabolism, Methyltransferases: physiology, Mice, Inbred C57BL, Knockout, Mutation, Nociceptive Pain: etiology, Nociceptive Pain: pathology, Nuclear Proteins: genetics, Nuclear Proteins: metabolism, tRNA Methyltransferases: genetics, tRNA Methyltransferases: metabolism, tRNA Methyltransferases: physiology

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1878-2434; info:eu-repo/semantics/altIdentifier/issn/0925-4439; info:eu-repo/semantics/altIdentifier/issn/0006-3002; info:eu-repo/semantics/altIdentifier/issn/1879-260X; info:eu-repo/semantics/altIdentifier/pmid/pmid:30557699; https://pub.dzne.de/record/140836

Availability: https://pub.dzne.de/record/140836
https://pub.dzne.de/search?p=id:%22DZNE-2020-07158%22

A novel deletion mutation in GJB1 causes X‐linked Charcot–Marie–Tooth disease in a Han Chinese family

Authors: Yaoqin Gong Pengfei Lin Wanling Yang et al.

Source: Muscle & Nerve. 42:922-926

Subject Terms: Charcot-Marie-Tooth Disease - genetics - physiopathology, 0301 basic medicine, Genotype, Genetic Linkage, GJB1 (connexin32), Neural Conduction, X-Linked - genetics - physiopathology, Charcot-Marie-Tooth disease, Connexins, 03 medical and health sciences, 0302 clinical medicine, Asian People, Charcot-Marie-Tooth Disease, Humans, Genetic Predisposition to Disease, Sequence Deletion, X-linked, Genetic Diseases, X-Linked - genetics - physiopathology, Electromyography, Genetic Diseases, X-Linked, 3. Good health, Pedigree, Haplotypes, Genetic Diseases, Connexins - genetics, Loss of function mutation, Gap Junction beta-1 Protein, Linkage analysis

Access URL: https://pubmed.ncbi.nlm.nih.gov/21104867
https://pubmed.ncbi.nlm.nih.gov/21104867/
https://europepmc.org/article/MED/21104867
https://core.ac.uk/display/37962257
http://hub.hku.hk/handle/10722/139590
https://www.ncbi.nlm.nih.gov/pubmed/21104867
http://hdl.handle.net/10722/139590

Sex-specific association of X-linked Toll-like receptor 7 (TLR7) with male systemic lupus erythematosus

Authors: C. Yung Yu Qiong Fu Zhao Jian et al.

Source: Proceedings of the National Academy of Sciences. 107:15838-15843

Subject Terms: Male, 0301 basic medicine, Disease susceptibility, Type I, Autoimmunity, Polymorphism, Single Nucleotide, Toll-Like Receptor 7 - genetics, 03 medical and health sciences, Sex Factors, Asian People, Humans, Lupus Erythematosus, Systemic, Genetic Predisposition to Disease, RNA, Messenger, Alleles, Functional polymorphism, 0303 health sciences, Lupus Erythematosus, Systemic - genetics, Lupus Erythematosus, Systemic - genetics, X-Linked - genetics, Genetic Diseases, X-Linked - genetics, Genetic Diseases, X-Linked, 3. Good health, Toll-Like Receptor 7, Genetic Diseases, Interferon

Access URL: https://www.pnas.org/content/pnas/107/36/15838.full.pdf
https://pubmed.ncbi.nlm.nih.gov/20733074
https://pubmed.ncbi.nlm.nih.gov/20733074/
https://core.ac.uk/display/37962195
http://www.pnas.org/cgi/doi/10.1073/pnas.1001337107
https://jglobal.jst.go.jp/detail?JGLOBAL_ID=201002211167686528
https://snucm.elsevierpure.com/en/publications/sex-specific-association-of-x-linked-toll-like-receptor-7-tlr7-wi
https://www.pnas.org/content/107/36/15838.short
http://hdl.handle.net/10722/139499

−459C>T point mutation in 5′ non‐coding region of human GJB1 gene is linked to X‐linked Charcot‐Marie‐Tooth neuropathy

Authors: Ramsden, DB Ho, SL Mak, W et al.

Source: Journal of the Peripheral Nervous System. 14:14-21

Subject Terms: Adult, Male, 0301 basic medicine, Charcot-Marie-Tooth, Adolescent, DNA Mutational Analysis, Neural Conduction, Electron, GJB1 (Connexin32), Non-coding region, Neural Conduction - Genetics - Physiology, Connexins, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Asian People, Microscopy, Electron, Transmission, Charcot-Marie-Tooth Disease, Peripheral Nerves - Pathology - Physiopathology - Ultrastructure, Transmission, Asian Continental Ancestry Group - Ethnology, Humans, Point Mutation, Peripheral Nerves, Child, Aged, Family Health, Microscopy, Electromyography, Genetic Diseases, X-Linked, Point Mutation - Genetics, Connexins - Genetics, Middle Aged, Charcot-Marie-Tooth Disease - Genetics - Pathology - Physiopathology, Genetic Diseases, X-Linked - Genetics, X-Linked - Genetics, Neuropathy, 5' Untranslated Regions - Genetics, Genetic Diseases, Mutation, Female, 5' Untranslated Regions, Sequence Analysis

Access URL: https://pubmed.ncbi.nlm.nih.gov/19335535
http://hub.hku.hk/handle/10722/147598
https://core.ac.uk/display/37968780
https://europepmc.org/article/MED/19335535
http://onlinelibrary.wiley.com/doi/10.1111/j.1529-8027.2009.00201.x/abstract
https://www.ncbi.nlm.nih.gov/pubmed/19335535
http://hdl.handle.net/10722/147598

Fine mapping of the X‐linked split‐hand/split‐foot malformation (SHFM2) locus to a 5.1‐Mb region on Xq26.3 and analysis of candidate genes

Authors: Patel, M Cohn, DH Ahmad, W et al.

Source: Clinical Genetics. 67:93-97

Subject Terms: Male, 0301 basic medicine, Dna mutational analysis, DNA Mutational Analysis, SHFM2, Chromosomes, x-linked - genetics, 03 medical and health sciences, Chromosome mapping - methods, Genetic diseases, x-linked - genetics, Humans, Abnormalities, Multiple, human, X-linked, Family Health, Chromosomes, Human, X, 0303 health sciences, Base Sequence, Chromosome Mapping, Genetic Diseases, X-Linked, Monodactyly and bidactyly, Lobster-claw feet, Pedigree, x - genetics, Chromosomes, human, x - genetics, Haplotypes, Female, Genetic diseases

Access URL: https://pubmed.ncbi.nlm.nih.gov/15617554
https://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2004.00369.x
https://www.scholars.northwestern.edu/en/publications/fine-mapping-of-the-x-linked-split-handsplit-foot-malformation-sh
http://hub.hku.hk/handle/10722/44392
http://hdl.handle.net/10722/44392

Clinical and immunological analysis of patients with X-linked agammaglobulinemia – single center experience

Authors: Barbara Piątosa Barbara Pietrucha Bożena Mikołuć et al.

Source: Central European Journal of Immunology. 3:367-371

Subject Terms: 0301 basic medicine, Geny sprzężone z chromosomem X - genetyka, Agammaglobulinemia - complications, Agammaglobulinemia - powikłania, X-linked - genetics, 3. Good health, Agammaglobulinemia - genetics, 03 medical and health sciences, 0302 clinical medicine, Genes, Kinazy białkowe tyrozynowe - genetyka, Protein-tyrosine kinases - genetics, Agammaglobulinemia - leczenie, Badania kohortowe, Cohort studies, Immunoglobuliny - stosowanie lecznicze, Agammaglobulinemia - therapy, Agammaglobulinemia - genetyka, Choroby genetyczne sprzężone z chromosomem X - genetyka, Genetic diseases, Immunoglobulins - therapeutic use

Access URL: https://www.termedia.pl/Journal/-10/pdf-21451-10?filename=Clinical and immunological.pdf
http://www.biotechnologia-journal.org/Clinical-and-immunological-analysis-of-patients-with-X-linked-agammaglobulinemia-single-center-experience
10
21451
1
1.html
https://www.termedia.pl/Journal/-10/pdf-21451-10?filename=Clinical and immunological.pdf
https://www.termedia.pl/Clinical-and-immunological-analysis-of-patients-with-X-linked-agammaglobulinemia-single-center-experience
10
21451
1
1.html
https://www.termedia.pl/doi/10.5114/ceji.2013.37748
http://www.termedia.pl/Clinical-and-immunological-analysis-of-patients-with-X-linked-agammaglobulinemia-single-center-experience
10
21451
1
1.html
https://doi.org/10.5114/ceji.2013.37748

Phenotypic annotation of the mouse X chromosome

Authors: Marina Gertsenstein Claude Van Campenhout Brian J. Cox et al.

Source: Genome research 20(8), 1154-1164 (2010). doi:10.1101/gr.105106.110
Genome Res. 20, 1154-1164 (2010)

Subject Terms: 0301 basic medicine, DNA Mutational Analysis, Lethal, Mice, x-linked genetic disorder, mutation, Mendelian disease, Mental Retardation, Genes, X-Linked, genetics [Genetic Diseases, X-Linked], genetics [Chromosomes, Human, X], X -- genetics, Repressor Proteins -- genetics, 0303 health sciences, Membrane Proteins -- genetics, genetics [Mental Retardation, X-Linked], BCOR protein, human, Genetic Diseases, X-Linked, Sciences bio-médicales et agricoles, methods [DNA Mutational Analysis], X Chromosome -- genetics, genetics [Membrane Proteins], Genetic Testing -- methods, Phenotype, Genetic Diseases, X-Linked -- genetics, ddc:540, Human, Proto-Oncogene Proteins -- genetics, X Chromosome, methods [Genetic Testing], genetics [X Chromosome], Molecular Sequence Data, Chromosomes, 03 medical and health sciences, X-Linked Intellectual Disability, Proto-Oncogene Proteins, Animals, Humans, Genetic Predisposition to Disease, Genetic Testing, Chromosomes, Human, X, Base Sequence, PORCN protein, human, Membrane Proteins, Molecular Sequence Annotation, X-Linked, Repressor Proteins, genetics [Repressor Proteins], Genes, DNA Mutational Analysis -- methods, Genes, Lethal, genetics [Proto-Oncogene Proteins], Acyltransferases

File Description: application/pdf; 1 full-text file(s): application/pdf

Access URL: http://genome.cshlp.org/content/20/8/1154.full.pdf
https://pubmed.ncbi.nlm.nih.gov/20548051
https://edoc.mdc-berlin.de/14038/
https://pure.mpg.de/pubman/faces/ViewItemOverviewPage.jsp?itemId=item_1633212
https://europepmc.org/article/MED/20548051
https://difusion.ulb.ac.be/vufind/Record/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/133208/Details
http://pubman.mpdl.mpg.de/pubman/item/escidoc:1633212
https://www.ncbi.nlm.nih.gov/pubmed/20548051
https://pub.dzne.de/record/136084
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=3213

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother

Authors: Dayer, Alexandre Bottani, Armand Bouchardy, Isabelle et al.

Source: Brain & Development, Vol. 29, No 1 (2007) pp. 47-50

Subject Terms: Adult, Male, 0301 basic medicine, Heterozygote, Inheritance Patterns/ genetics, Methyl-CpG-Binding Protein 2, DNA Mutational Analysis, Inheritance Patterns, Genetic Predisposition to Disease/ genetics, Mothers, Penetrance, 03 medical and health sciences, 0302 clinical medicine, X Chromosome Inactivation/genetics, Gene Frequency, X Chromosome Inactivation, Rett Syndrome, Humans, Genetic Predisposition to Disease, Rett Syndrome/diagnosis/ genetics, Genetic Testing, ddc:616, Mutation/ genetics, Genetic Diseases, X-Linked, Genetic Diseases, X-Linked/ genetics, Phenotype, Gene Frequency/genetics, Child, Preschool, Mutation, Female, Gene Deletion, Methyl-CpG-Binding Protein 2/ genetics

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/16844334
https://www.sciencedirect.com/science/article/pii/S0387760406001355
https://archive-ouverte.unige.ch/unige:8702
https://www.ncbi.nlm.nih.gov/pubmed/16844334
https://pubmed.ncbi.nlm.nih.gov/16844334/
http://ci.nii.ac.jp/naid/10024134784
https://core.ac.uk/display/60784404
https://archive-ouverte.unige.ch/unige:8702
https://doi.org/10.1016/j.braindev.2006.06.001
https://archive-ouverte.unige.ch/unige:8702

Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation

Authors: Mansouri, Mahmoud Reza Marklund, Lena Gustavsson, Peter et al.

Source: European Journal of Human Genetics. 13(8):970-977

Subject Terms: Adult, Amino Acid Sequence, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 15, DNA Methylation, DNA-Binding Proteins/genetics/*metabolism, Female, Humans, Mental Retardation, X-Linked/*genetics/metabolism, Molecular Sequence Data, Mutation, Translocation, Genetic, X Chromosome Inactivation, MEDICINE, MEDICIN

File Description: print

Access URL: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-14997

Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction

Authors: Luhmann, Ulrich F. O. Meunier, Dominique Shi, Wei et al.

Source: Genesis. 42(4):253-62

Subject Terms: Animals, Newborn, Deafness/genetics, Disease Models, Animal, Eye Diseases, Hereditary/*genetics, Eye Proteins/biosynthesis/*genetics, Female, Fertility/genetics, Fetal Death/*genetics, Gene Expression, Genetic Diseases, X-Linked/*genetics, Homozygote, Humans, In Situ Hybridization, Infertility, Female/*genetics, Male, Mental Retardation/genetics, Mice, Knockout, Nerve Tissue Proteins/biosynthesis/*genetics, Pregnancy, Reproduction/*genetics/physiology, Research Support, Non-U.S. Gov't, Reverse Transcriptase Polymerase Chain Reaction, Trophoblasts, NATURAL SCIENCES, Biology, Organism biology, Developmental biology, NATURVETENSKAP, Biologi, Organismbiologi, Utvecklingsbiologi

File Description: print

Access URL: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-78430

A gene for nonsyndromic X‐linked mental retardation (MRX77) maps to Xq12‐Xq21.33

Authors: Sismani, Carolina Syrrou, Maria Christodoulou, Kyproula et al.

Contributors: Sismani, Carolina Syrrou, Maria Christodoulou, Kyproula et al.

Source: American Journal of Medical Genetics, 122A, 1, pp. 46-50

Subject Terms: Male, 0301 basic medicine, Chromosomes, Human, X, 0303 health sciences, DNA Mutational Analysis, Chromosome Mapping, UMCN 5.1: Genetic defects of metabolism, Pedigree, 03 medical and health sciences, X-Linked Intellectual Disability, Cytogenetic Analysis, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, Female, Mental Retardation, X-Linked/*genetics/physiopathology

Access URL: https://pubmed.ncbi.nlm.nih.gov/12949971
https://hal.science/hal-04153034v1
https://doi.org/10.1002/ajmg.a.20284
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/166935
https://doi.org/10.1002/ajmg.a.20284
https://core.ac.uk/display/86158089
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.20284
https://pubmed.ncbi.nlm.nih.gov/12949971/
https://www.ncbi.nlm.nih.gov/pubmed/12949971
https://repository.ubn.ru.nl/handle/2066/166935
http://olympias.lib.uoi.gr/jspui/handle/123456789/24343
https://hdl.handle.net/2066/166935
https://repository.ubn.ru.nl//bitstream/handle/2066/166935/166935.pdf