نتائج البحث

1

Genome‐wide association study of café‐au‐lait macule number in neurofibromatosis type 1

المؤلفون: Sara Bass, Heejong Sung, Andrea Baldwin, Douglas R. Stewart, Alexander F. Wilson, Jeremy A. Sabourin, Alexander Pemov, Kedest Teshome, Paula L. Hyland, Wen Luo, Brigitte C. Widemann

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Neurofibromatosis 1, lcsh:QH426-470, Genome-wide association study, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Ribosomal Protein S6 Kinases, 90-kDa, neurofibromatosis type 1, 03 medical and health sciences, Genetics, medicine, Humans, Functional studies, Neurofibromatosis, Enhancer, Molecular Biology, Genetics (clinical), Genetic association, genome‐wide association study, complementary pairs stability selection for genome‐wide association studies analysis, Cafe-au-Lait Spots, Original Articles, Middle Aged, café‐au‐lait macule, genetic modifiers, medicine.disease, Cafe-au-lait macules, RPS6KA2, lcsh:Genetics, 030104 developmental biology, Cohort, Original Article, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4582196df23925d294266279f20095fTest
https://doaj.org/article/17792bc32bad4f81bd67a76bee9e01e4Test

2

Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

المؤلفون: Concepción Hernández, Emilio Cuesta, Pablo Lapunzina, Ramón Peces, Dolores Tellería, Rocío Mena, Yolanda Martín, Julián Nevado, Carlos Peces, Rafael Selgas

المساهمون: UAM. Departamento de Medicina, Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Biblos-e Archivo: Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Molecular Genetics & Genomic Medicine
Biblos-e Archivo. Repositorio Institucional de la UAM
instname

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, PKD2, next‐generation sequencing (NGS), NF1 mutation, 030105 genetics & heredity, urologic and male genital diseases, next-generation sequencing (NGS), Genetics (clinical), autosomal dominant polycystic kidney disease (ADPKD), Genetics, Neurofibromin 1, biology, Polycystic Kidney, Autosomal Dominant, female genital diseases and pregnancy complications, Phenotype, Codon, Nonsense, Original Article, Adult, Optic Nerve Glioma, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, TRPP Cation Channels, Adolescent, lcsh:QH426-470, Medicina, Nonsense mutation, Autosomal dominant polycystic kidney disease, neurofibromatosis type 1 (NF1), Locus (genetics), 03 medical and health sciences, Genetic linkage, medicine, Humans, optic pathway gliomas, Neurofibromatosis, Molecular Biology, Gene, business.industry, urogenital system, Original Articles, medicine.disease, nervous system diseases, lcsh:Genetics, 030104 developmental biology, biology.protein, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a18869515964a0254f8941f9dc678c8Test
https://doaj.org/article/7fb2a9acf0784e3bba702315cc508d2eTest

3

CD40LG mutations in Vietnamese patients with X‐linked hyper‐IgM syndrome; catastrophic anti‐phospholipid syndrome as a new complication

المؤلفون: Linh Thi Truc Pham, Xinh Thi Phan, Thuy Thi Thanh Pham, Vy Nguyen, Tuan Minh Nguyen, Anh Tran, Anh Nguyen Lien Phan, Sigrid M. A. Swagemakers, Petrus Martinus van Hagen, Khanh Thi Xuan Luong, Nghia Huynh, Tam Thi Minh Nguyen, Chi-Bao Bui, Cuc Tran Thu Cao, Duong Thuy Nguyen

المساهمون: Pathology, Internal Medicine, Immunology

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics and Genomic Medicine, 9(8):e1732. John Wiley & Sons Inc.
Molecular Genetics & Genomic Medicine, Vol 9, Iss 8, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Hyper IgM syndrome, anti‐phospholipid syndrome, Adolescent, CD40 Ligand, QH426-470, 030105 genetics & heredity, medicine.disease_cause, primary immunodeficiency, Clinical Reports, 03 medical and health sciences, Western blot, Genotype, Genetics, medicine, Humans, Child, Molecular Biology, CD40 ligand, Genetics (clinical), Exome sequencing, Mutation, Clinical Report, medicine.diagnostic_test, business.industry, Hyper-IgM Immunodeficiency Syndrome, Type 1, hyper‐IgM syndrome, medicine.disease, Antiphospholipid Syndrome, 030104 developmental biology, Otitis, Phenotype, Immunology, Primary immunodeficiency, whole‐exome sequencing, medicine.symptom, Complication, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db0f8bd5d9220d5f640107882e121896Test
http://europepmc.org/articles/PMC8404229Test

4

Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands

المؤلفون: Miho Yamashita, Natsuko Futagawa, Yousuke Higuchi, Kosei Hasegawa, Hirokazu Tsukahara, Hiroyuki Tanaka

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 6, Pp n/a-n/a (2021)

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, COL1A1, COL1A2, QH426-470, 030105 genetics & heredity, Bone fragility, Genetic analysis, Genotype-phenotype distinction, Japan, skin and connective tissue diseases, Child, Genetics (clinical), media_common, Genetics, Sanger sequencing, integumentary system, Middle Aged, Osteogenesis Imperfecta, Phenotype, Osteogenesis imperfecta, Child, Preschool, symbols, Original Article, Female, IFITM5, musculoskeletal diseases, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genotype, media_common.quotation_subject, Nonsense, macromolecular substances, Biology, Collagen Type I, 03 medical and health sciences, symbols.namesake, medicine, Humans, Molecular Biology, Infant, Membrane Proteins, Original Articles, medicine.disease, Collagen Type I, alpha 1 Chain, 030104 developmental biology, variant, Mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31bdeb2935ee8e18d640ab8f7e2a0880Test
http://europepmc.org/articles/PMC8222851Test

5

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder

المؤلفون: Rini Pauly, Charles E. Schwartz, Sujata Srikanth, Luigi Boccuto, Roger E. Stevenson, Cindy Skinner, Lauren Cascio, Kelly Jones, Chin-Fu Chen

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Amino Acid Transport System y+, Fusion Regulatory Protein 1, Heavy Chain, lcsh:QH426-470, Autism Spectrum Disorder, 030105 genetics & heredity, Biology, SLC7A5, Cell Line, Large Neutral Amino Acid-Transporter 1, 03 medical and health sciences, chemistry.chemical_compound, symbols.namesake, Neurodevelopmental disorder, Genetics, Aromatic amino acids, medicine, Humans, Child, Molecular Biology, Gene, Genetics (clinical), chemistry.chemical_classification, Sanger sequencing, amino acids, large amino acid transporter (LAT), Fusion Regulatory Protein 1, Light Chains, Tryptophan, Phenotype microarray, Metabolism, Original Articles, medicine.disease, Autism spectrum disorder (ASD), Amino acid, lcsh:Genetics, 030104 developmental biology, chemistry, Child, Preschool, Mutation, symbols, Original Article, Female, metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5206f4ecfc4c31972484600af2af2e69Test
https://doaj.org/article/10a44e8186d040c3873679b7885f54e7Test

6

Effects of early trauma and corticotropin‐releasing factor receptor 1 gene polymorphism on adult visual spatial memory

المؤلفون: Xueyi Wang, Feifei Sun, Ran Wang, Lu-Lu Yu, Yanan Chen, Lan Wang, Na Li, Mei Song, Cuixia An, Xiaochuan Zhao

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)

مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, Genotype, Single-nucleotide polymorphism, Neuropsychological Tests, 030105 genetics & heredity, Verbal learning, Polymorphism, Single Nucleotide, Receptors, Corticotropin-Releasing Hormone, Spatial memory, Gastroenterology, polymorphism, stress, 03 medical and health sciences, Gene Frequency, Polymorphism (computer science), Internal medicine, Earthquakes, Genetics, medicine, Humans, Molecular Biology, Allele frequency, Genetics (clinical), Memory Disorders, business.industry, Working memory, Corticotropin-Releasing Factor Receptor 1, corticotropin‐releasing factor receptor 1, Original Articles, spatial memory, lcsh:Genetics, Cross-Sectional Studies, 030104 developmental biology, Adult Survivors of Child Adverse Events, Maternal Exposure, earthquake, rs7209436, Case-Control Studies, Original Article, Female, Gene polymorphism, business, rs242924

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bceb5795f61796a73bbceafa88e0e3cbTest
https://doi.org/10.1002/mgg3.974Test

7

A novel SLC37A4 missense mutation in GSD‐Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis

المؤلفون: Xiaoxia Zuo, Huali Zhang, Liping Duan, Yisha Li, Haiyan Tang, Hongjun Zhao, Xiaoliu Shi, Qianyun Xu

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)

مصطلحات موضوعية: Adult, X-Box Binding Protein 1, 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Gout, Monosaccharide Transport Proteins, leukocytopenia, Mutation, Missense, Apoptosis, QH426-470, Glycogen Storage Disease Type I, 030105 genetics & heredity, medicine.disease_cause, glycogen storage disease type Ib, Antiporters, 03 medical and health sciences, Leukocytopenia, Glycogen Storage Disease Type Ib, Leukocytes, Genetics, medicine, Humans, Glycogen storage disease, Glucose homeostasis, Missense mutation, Molecular Biology, Cells, Cultured, Genetics (clinical), Mutation, business.industry, nutritional and metabolic diseases, Original Articles, Leukopenia, Endoplasmic Reticulum Stress, medicine.disease, G6PT, Pedigree, 030104 developmental biology, Liver, SLC37A4, Unfolded Protein Response, Cancer research, Unfolded protein response, Original Article, Female, business, Transcription Factor CHOP

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::828e5ae45552b969e3bd7f7546d2367fTest
https://doi.org/10.1002/mgg3.1568Test

8

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

المؤلفون: Ehsan Razmara, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi, Golareh Asgaritarghi, Safoura Zardadi

المصدر: Molecular Genetics & Genomic Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d47cf94e123c436ebbce7de50d17aacTest
https://doi.org/10.1002/mgg3.1550Test

9

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

المؤلفون: Lilian Bomme Ousager, Anette Drøhse Kjeldsen, Katrine S. Aagaard, Martin Jakob Larsen, Klaus Brusgaard, Emilie B. Lester, Pernille Mathiesen Tørring, Ieva Miceikaite

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Aagaard, K S, Brusgaard, K, Miceikaite, I, Larsen, M J, Kjeldsen, A D, Lester, E B, Ousager, L B & Tørring, P M 2020, ' Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia ', Molecular Genetics and Genomic Medicine, vol. 8, no. 11, e1498 . https://doi.org/10.1002/mgg3.1498Test
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, gastrointestinal cancer, Chromosomal translocation, Locus (genetics), JP‐HHT, 030105 genetics & heredity, Biology, JP-HHT, SMAD4, Germline, Clinical Reports, Translocation, Genetic, HHT, chromosomal translocation, 03 medical and health sciences, Chromosome Breakpoints, Neoplastic Syndromes, Hereditary, Genetics, medicine, otorhinolaryngologic diseases, Humans, Juvenile polyposis syndrome, Molecular Biology, Genetics (clinical), Hereditary Hemorrhagic Telangiectasia, Smad4 Protein, Clinical Report, Intestinal Polyposis, balanced translocation, Breakpoint, Chromosome, ACVRL1, medicine.disease, Phenotype, Pedigree, JPHT, juvenile polyposis syndrome, lcsh:Genetics, 030104 developmental biology, Chromosomes, Human, Pair 1, Female, Telangiectasia, Hereditary Hemorrhagic, Chromosomes, Human, Pair 18

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61fcfc12b56672a105be32f086b1ebb6Test
https://doaj.org/article/f725ae3adc49493f95c49b3543b04589Test

10

Association of long noncoding RNA MALAT1 polymorphisms with gastric cancer risk in Korean individuals

المؤلفون: Jae Kyu Sung, Hyojin Kang, Sang-Il Lee, Eun-Heui Jin, In Ae Chang, Jang Hee Hong

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, metastasis‐associated lung adenocarcinoma transcript 1, Adult, Male, medicine.medical_specialty, single‐nucleotide polymorphism, Single-nucleotide polymorphism, 030105 genetics & heredity, Gastroenterology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Stomach Neoplasms, Internal medicine, Republic of Korea, Genetics, medicine, Humans, long noncoding RNA, Molecular Biology, Genotyping, Genetics (clinical), Aged, MALAT1, business.industry, case‐control study, gastric cancer, Case-control study, Cancer, Odds ratio, Original Articles, Middle Aged, medicine.disease, Confidence interval, 030104 developmental biology, Adenocarcinoma, Original Article, Female, RNA, Long Noncoding, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cdaccd5da4c27379f770a5ee43dc7a8Test
http://europepmc.org/articles/PMC7767557Test

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