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Tytuł:
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.
Autorzy:
Zhang Z; Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Zhang X; Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Xue H; Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Chu L; Basecare Medical Device Co., Ltd, Suzhou, China.
Hu L; Basecare Medical Device Co., Ltd, Suzhou, China.
Bi X; Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Zhu P; Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Zhang D; Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Chen J; Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Cui X; Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Kong L; Basecare Medical Device Co., Ltd, Suzhou, China.
Liang B; State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, China.
Wu X; Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2409.
Typ publikacji:
Journal Article
MeSH Terms:
Myasthenic Syndromes, Congenital*/diagnosis
Myasthenic Syndromes, Congenital*/genetics
Child ; Female ; Pregnancy ; Humans ; Genetic Testing ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria.
Autorzy:
Yang H; Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
He L; Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Gong H; Clinical Research Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Wan C; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Ding J; Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Liao P; Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Wang X; Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2353.
Typ publikacji:
Journal Article
MeSH Terms:
Proteinuria*/genetics
Proteinuria*/pathology
Receptors, Cell Surface*/genetics
Child ; Humans ; DNA, Complementary
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Aberrant splicing caused by a novel KMT2A variant in Wiedemann-Steiner syndrome.
Autorzy:
Niu J; Reproductive Medicine Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.; Department of Obstetrics and Gynecology, Jiaxing Maternity and Child Health Care Hospital, College of Medicine, Jiaxing University, Jiaxing, China.
Teng X; Reproductive Medicine Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
Zhang J; Reproductive Medicine Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2415.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Abnormalities, Multiple*/genetics
Rectal Fistula*
Growth Disorders*
Contracture*
Intellectual Disability*
Facies*
Microcephaly*
Child ; Female ; Humans ; Child, Preschool ; Syndrome ; RNA
SCR Disease Name:
Growth Deficiency and Mental Retardation with Facial Dysmorphism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype-A case report and literature review.
Autorzy:
Pi X; Department of Ophthalmology, The Sixth Hospital of Wuhan, Affiliated Hospital of Jianghan University, Wuhan, China.
Zhang Q; Department of Ophthalmology, The Sixth Hospital of Wuhan, Affiliated Hospital of Jianghan University, Wuhan, China.
Wang X; Department of Ophthalmology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Jiang F; Department of Ophthalmology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2414.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Calcinosis*
Polydactyly*/genetics
Retinal Neoplasms*/genetics
Retinoblastoma*/genetics
Retinoblastoma*/pathology
Humans ; Infant ; Male ; DNA Copy Number Variations ; Karyotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
ABCG2 polymorphisms and susceptibility to ARV-associated hepatotoxicity.
Autorzy:
Singh H; Department of Molecular Biology, National AIDS Research Institute, Pune, India.
Dhotre K; Department of Molecular Biology, National AIDS Research Institute, Pune, India.
Shyamveer; Department of Molecular Biology, National AIDS Research Institute, Pune, India.
Choudhari R; Department of Molecular Biology, National AIDS Research Institute, Pune, India.
Verma A; Bioorganic and Medicinal Chemistry Research Laboratory, Department of Pharmaceutical Sciences, Sam Higginbottom University of Agriculture, Technology and Sciences, Allahabad, India.
Mahajan SD; Department of Medicine, Jacobs School of Medicine & Biomedical Sciences, University at Buffalo's Clinical Translational Research Center, Buffalo, New York, USA.
Ali N; Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2362. Date of Electronic Publication: 2024 Mar 07.
Typ publikacji:
Journal Article
MeSH Terms:
HIV Infections*/drug therapy
HIV Infections*/genetics
HIV Infections*/complications
Chemical and Drug Induced Liver Injury*/genetics
Humans ; Polymorphism, Single Nucleotide ; Genotype ; Risk Factors ; ATP Binding Cassette Transporter, Subfamily G, Member 2/genetics ; Neoplasm Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
Autorzy:
Zhuang DY; The Central Laboratory of Birth Defects Prevention and Control, Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China.
Sun SN; Department of Neonatology, Women and Children' s Hospital of Ningbo University, Ningbo, Zhejiang, China.
Hu ZJ; Department of Child Health Care, Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China.
Xie M; The Central Laboratory of Birth Defects Prevention and Control, Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China.
Zhang YX; The Central Laboratory of Birth Defects Prevention and Control, Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China.
Yan LL; The Central Laboratory of Birth Defects Prevention and Control, Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China.
Pan JW; The Central Laboratory of Birth Defects Prevention and Control, Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China.
Li HB; The Central Laboratory of Birth Defects Prevention and Control, Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2405.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mandibulofacial Dysostosis*/genetics
Respiratory Tract Infections*
Female ; Humans ; China ; Hearing Loss, Conductive ; Nuclear Proteins/genetics ; Phosphoproteins/genetics ; Retrospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
Autorzy:
He QB; Department of Pediatric Orthopaedics, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Wu CH; Department of Clinical Laboratory, Hebei Petrochina Central Hospital, Langfang, China.
Sun DL; Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, China.; Hebei Key Laboratory of Maternal and Fetal Medicine; Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, China.
Yuan JY; Department of Pediatric Orthopaedics, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Hu HY; Birth Defects Prevention and Control Technology Research Center, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing, China.
Yang K; Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.; Beijing Maternal and Child Health Care Hospital, Capital Medical University, Beijing, China.
Chen WQ; Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, China.; Hebei Key Laboratory of Maternal and Fetal Medicine; Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, China.
Yan YS; Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.; Beijing Maternal and Child Health Care Hospital, Capital Medical University, Beijing, China.
Yin GY; Department of Clinical Laboratory, Hebei Petrochina Central Hospital, Langfang, China.
Zhang J; Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, China.; Hebei Key Laboratory of Maternal and Fetal Medicine; Shijiazhuang Key Laboratory of Reproductive Health, Shijiazhuang, China.
Li YZ; Department of Pediatric Orthopaedics, The Third Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2401.
Typ publikacji:
Journal Article
MeSH Terms:
Arthrogryposis*/genetics
Conjunctiva*/abnormalities
Contracture*/genetics
Pterygium*
Humans ; Male ; Family
SCR Disease Name:
Pterygium Of Conjunctiva And Cornea
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Okur-Chung neurodevelopmental syndrome: Implications for phenotype and genotype expansion.
Autorzy:
Nan H; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Chu M; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Zhang J; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Jiang D; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Wang Y; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.
Wu L; Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.; National Clinical Research Center for Geriatric Diseases, Beijing, China.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2398.
Typ publikacji:
Case Reports; Journal Article; Review; Systematic Review
MeSH Terms:
Intellectual Disability*/genetics
Adult ; Female ; Humans ; Asian People ; Databases, Factual ; Genotype ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Major depressive disorder and the risk of irritable bowel syndrome: A Mendelian randomization study.
Autorzy:
Zhu R; Department of Endoscopy, The First Hospital of Jilin University, Changchun, Jilin, China.
Zhang N; Department of Endoscopy, The First Hospital of Jilin University, Changchun, Jilin, China.
Zhu H; Department of Endoscopy, The First Hospital of Jilin University, Changchun, Jilin, China.
Li F; Department of Endoscopy, The First Hospital of Jilin University, Changchun, Jilin, China.
Xu H; Department of Endoscopy, The First Hospital of Jilin University, Changchun, Jilin, China.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2413.
Typ publikacji:
Meta-Analysis; Journal Article
MeSH Terms:
Depressive Disorder, Major*/genetics
Irritable Bowel Syndrome*/epidemiology
Irritable Bowel Syndrome*/genetics
Humans ; Mendelian Randomization Analysis ; Databases, Factual ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants.
Autorzy:
Li Y; Department of Neonatology, Suzhou Hospital of Anhui Medical University (Suzhou Municipal Hospital of Anhui Province), Suzhou, Anhui, China.
Dai L; Department of Neonatology, Anhui Province Children's Hospital, Hefei, Anhui, China.
Xu H; Department of Neonatology, Suzhou Hospital of Anhui Medical University (Suzhou Municipal Hospital of Anhui Province), Suzhou, Anhui, China.
Huang J; Department of Neonatology, Suzhou Hospital of Anhui Medical University (Suzhou Municipal Hospital of Anhui Province), Suzhou, Anhui, China.
Zhang J; Department of Neonatology, Suzhou Hospital of Anhui Medical University (Suzhou Municipal Hospital of Anhui Province), Suzhou, Anhui, China.
Mei Z; Department of Neonatology, Suzhou Hospital of Anhui Medical University (Suzhou Municipal Hospital of Anhui Province), Suzhou, Anhui, China.
Zhang R; Department of Neonatology, Suzhou Hospital of Anhui Medical University (Suzhou Municipal Hospital of Anhui Province), Suzhou, Anhui, China.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2399.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Kidney Failure, Chronic*
Polycystic Kidney Diseases*
Adult ; Female ; Humans ; Infant ; Infant, Newborn ; Asian People ; Infant, Premature ; Liver Cirrhosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of a novel TSC1 gene variant in a patient with atypical vitiligo-like skin lesions: Unveiling the hidden tuberous sclerosis complex.
Autorzy:
Liu L; Department of Dermatology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.; Department of Dermatology, Suining Central Hospital, Suining, Sichuan, China.
Wang Y; Department of Dermatology, Langzhong People's Hospital, Nanchong, Sichuan, China.
Zhang Z; Department of Dermatology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, China.
Yu C; Department of Dermatology, Suining Central Hospital, Suining, Sichuan, China.
Chen J; Department of Dermatology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2403.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Hamartoma*
Tuberous Sclerosis*/genetics
Vitiligo*/genetics
Humans ; Frameshift Mutation ; Introns
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic diagnosis of Alport syndrome in 16 Chinese families.
Autorzy:
Xiao T; Department of Nephrology, the Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, P.R. China.
Zhang J; Department of Nephrology, the Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, P.R. China.
Liu L; Department of Nephrology, the Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, P.R. China.
Zhang B; Department of Nephrology, the Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing, P.R. China.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2406.
Typ publikacji:
Journal Article
MeSH Terms:
Nephritis, Hereditary*/diagnosis
Nephritis, Hereditary*/genetics
Adult ; Female ; Humans ; Male ; Young Adult ; Asian People/genetics ; China ; Collagen Type IV/genetics ; Kidney
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.
Autorzy:
Song Y; 3billion, Inc., Seoul, South Korea.
Elwafa RAHA; Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Omar OM; Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Seo GH; 3billion, Inc., Seoul, South Korea.
Lee H; 3billion, Inc., Seoul, South Korea.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2410.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Hypercholesterolemia*
Hyperlipoproteinemia Type II*/genetics
Humans ; Computational Biology ; Egypt ; Exons ; Long Interspersed Nucleotide Elements
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency.
Autorzy:
Xing XL; School of Basic Medicine, Ningxia Medical University, Yinchuan, Ningxia, China.; Hunan Provincial Key Laboratory for Synthetic Biology of Traditional Chinese Medicine, Hunan University of Medicine, Changsha, China.
Zeng Z; School of Basic Medicine, Ningxia Medical University, Yinchuan, Ningxia, China.; Hunan Provincial Key Laboratory for Synthetic Biology of Traditional Chinese Medicine, Hunan University of Medicine, Changsha, China.
Wang Y; School of Basic Medicine, Ningxia Medical University, Yinchuan, Ningxia, China.
Pan B; Department of Auricular Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Huang X; School of Basic Medicine, Ningxia Medical University, Yinchuan, Ningxia, China.; Hunan Provincial Key Laboratory for Synthetic Biology of Traditional Chinese Medicine, Hunan University of Medicine, Changsha, China.
Pokaż więcej
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2411.
Typ publikacji:
Journal Article
MeSH Terms:
Craniofacial Abnormalities*/genetics
Musculoskeletal Abnormalities*
Animals ; Mice ; Computational Biology ; Phosphatidylinositol 3-Kinases ; Proto-Oncogene Proteins c-akt/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.
Autorzy:
Ma X; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.; Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Zhao L; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
Li L; Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Li X; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
Ding C; Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Ma J; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2296. Date of Electronic Publication: 2024 Feb 28.
Typ publikacji:
Journal Article
MeSH Terms:
Frameshift Mutation*
Waardenburg Syndrome*/genetics
Waardenburg Syndrome*/pathology
Humans ; Female ; China ; Pedigree ; DNA ; SOXE Transcription Factors/genetics
SCR Disease Name:
Waardenburg syndrome type 2
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hope, but never expect? Comparing parents' pre- and post-disclosure attitudes toward return of results from diagnostic exome sequencing for their child.
Autorzy:
Cornelis C; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Medical Humanities, Julius Center, University Medical Center Utrecht, Utrecht, The Netherlands.
Tibben A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Bolt I; Department of Medical Ethics, Philosophy and History of Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
van Summeren M; Department of General Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.
Knoers N; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands.
Bredenoord AL; Department of Medical Humanities, Julius Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Erasmus School of Philosophy, Erasmus University Rotterdam, Rotterdam, The Netherlands.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2341. Date of Electronic Publication: 2024 Feb 17.
Typ publikacji:
Journal Article
MeSH Terms:
Disclosure*
Attitude*
Child ; Humans ; Child, Preschool ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Autorzy:
Khan A; Faculty of Science, Department of Biological Sciences (Zoology), University of Lakki Marwat, Lakki Marwat, Pakistan.; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Alexander von Humboldt Fellowship Foundation, Berlin, Germany.
Al Shamsi B; National Genetics Center, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.; Child Health Department, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Al Shehhi M; National Genetics Center, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Kashgari AA; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah Specialized Children's Hospital (KASCH), Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Al Balushi A; National Genetics Center, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.; Child Health Department, The Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Al Dihan FA; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Alghamdi MA; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Manal A; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah Specialized Children's Hospital (KASCH), Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
González-Álvarez AC; Bioscience Program, Bioengineering Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.; Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.
Arold ST; Bioscience Program, Bioengineering Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.; Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.; Centre de Biologie Structurale (CBS), INSERM, CNRS, Université de Montpellier, Montpellier, France.
Eyaid W; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC), King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Abdullah Specialized Children's Hospital (KASCH), Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2274. Date of Electronic Publication: 2024 Feb 13.
Typ publikacji:
Journal Article
MeSH Terms:
Progeria*/genetics
Pregnancy ; Female ; Humans ; Phenotype ; Fetal Growth Retardation/genetics ; Mutation, Missense ; Syndrome ; RNA Polymerase III/genetics
SCR Disease Name:
Progeroid syndrome, neonatal
Czasopismo naukowe
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Tytuł:
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.
Autorzy:
Ryu SW; 3billion, Inc, Seoul, South Korea.
Yoon JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Kim DW; 3billion, Inc, Seoul, South Korea.
Han B; 3billion, Inc, Seoul, South Korea.
Han H; 3billion, Inc, Seoul, South Korea.
Han J; 3billion, Inc, Seoul, South Korea.
Lee H; 3billion, Inc, Seoul, South Korea.
Seo GH; 3billion, Inc, Seoul, South Korea.
Lee BH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2330. Date of Electronic Publication: 2024 Jan 24.
Typ publikacji:
Journal Article
MeSH Terms:
Tumor Suppressor Proteins*/genetics
Tuberous Sclerosis*/genetics
Tuberous Sclerosis*/pathology
Humans ; Tuberous Sclerosis Complex 1 Protein/genetics ; Tuberous Sclerosis Complex 2 Protein/genetics ; Mutation ; Chromosomes, Human, Pair 9 ; Republic of Korea
Czasopismo naukowe
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Tytuł:
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Autorzy:
Olayiwola JO; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Marhabaie M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
Koboldt D; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Matthews T; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Siemon A; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Mouhlas D; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Porter T; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Kyle G; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Myers C; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Mei H; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Hou YC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Babcock M; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Hunter J; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Schieffer KM; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Akkari Y; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Reshmi S; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Cottrell C; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Mathew MT; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
Leung ML; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pathology, The Ohio State University of College of Medicine, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University of College of Medicine, Columbus, Ohio, USA.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2349. Date of Electronic Publication: 2024 Jan 23.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Chromosome Disorders*/diagnosis
Chromosome Disorders*/genetics
Down Syndrome*
Female ; Humans ; Pregnancy ; Fetal Death ; Prenatal Diagnosis/methods ; Retrospective Studies
Czasopismo naukowe
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Tytuł:
Novel homozygous mutations in TXNDC15 causing Meckel syndrome.
Autorzy:
Deng T; Reproductive Medical Center, Shenzhen Maternity & Child Healthcare Hospital, Shenzhen, People's Republic of China.
Xie Y; Neonatal Screening Center, Shenzhen Maternity & Child Healthcare Hospital, Shenzhen, People's Republic of China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2343. Date of Electronic Publication: 2023 Dec 29.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Polycystic Kidney Diseases*/genetics
Polycystic Kidney Diseases*/pathology
Ciliary Motility Disorders*/genetics
Ciliary Motility Disorders*/pathology
Retinitis Pigmentosa*
Humans ; Encephalocele/genetics ; Mutation
SCR Disease Name:
Meckel syndrome type 1
Czasopismo naukowe
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Wyświetlanie 1-20 z 2190

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