المؤلفون: Smith CS; Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Riddell M; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Badalato L; Department of Pediatrics, Queen's University, Kingston, Ontario, Canada., Au PYB; Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63625. Date of Electronic Publication: 2024 May 13.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Uniparental Disomy*/genetics , Uniparental Disomy*/pathology , Phenotype* , Chromosomes, Human, Pair 14*/genetics, Humans ; Adult ; Male ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Imprinting Disorders

SCR Disease Name: Uniparental disomy, paternal, chromosome 14

المؤلفون: Yan L; The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China., Ding S; Department of Pediatrics, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China., He Y; Department of Pediatrics, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China., Fu B; Health Science Center, Ningbo University, Ningbo, Zhejiang, China., Chen C; Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China., Li H; The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, Zhejiang, China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Aug; Vol. 12 (8), pp. e2507.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Uniparental Disomy*/genetics , Uniparental Disomy*/pathology , Homozygote* , Iduronidase*/genetics , Mucopolysaccharidosis I*/genetics , Mucopolysaccharidosis I*/pathology , Chromosomes, Human, Pair 4*/genetics , RNA Splicing*, Humans ; Male ; Female ; Polymorphism, Single Nucleotide ; Mutation ; East Asian People

المؤلفون: Moch J; Institute of Human Genetics, Leipzig University, Leipzig, Germany., Radtke M; Institute of Human Genetics, Leipzig University, Leipzig, Germany., Liehr T; Institute of Human Genetics, Jena University, Jena, Germany., Eggermann T; Institute of Human Genetics and Genomic Medicine, Aachen University, Aachen, Germany., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Hentschel J; Institute of Human Genetics, Leipzig University, Leipzig, Germany., Schumann I; Institute of Human Genetics, Leipzig University, Leipzig, Germany. isabell.schumann@medizin.uni-leipzig.de.

المصدر: Human genetics [Hum Genet] 2024 Aug; Vol. 143 (8), pp. 955-964. Date of Electronic Publication: 2024 Jul 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Uniparental Disomy*/genetics , Uniparental Disomy*/diagnosis, Humans ; Cohort Studies ; Female ; Male ; Exome Sequencing/methods ; Microsatellite Repeats/genetics

المؤلفون: Zhang J; Department of Neurology, Qilu Hospital of Shandong University (Qingdao), Qingdao, Shandong Province, China., Liu Y; Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong Province, China., Zhao C; Department of Neurology, Qilu Hospital of Shandong University (Qingdao), Qingdao, Shandong Province, China.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Aug; Vol. 39 (8), pp. 1426-1428. Date of Electronic Publication: 2024 May 13.

نوع المنشور: Letter; Case Reports

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Uniparental Disomy*/genetics , Parkinson Disease*/genetics , alpha-Synuclein*/genetics , Chromosomes, Human, Pair 4*/genetics, Humans ; Male ; Female ; Middle Aged

المؤلفون: Cuk M; Department of Pediatrics, School of Medicine, University Hospital Centre Zagreb, 10000 Zagreb, Croatia., Unal B; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Bevanda A; Zagreb County Health Center, 10000 Zagreb, Croatia., Hayes CP; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Walker M; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Abraamyan F; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA., Beluzic R; Division of Molecular Medicine, Rudjer Boskovic Institute, 10000 Zagreb, Croatia., Gornik KC; Department of Laboratory Diagnostics, Division of Cytogenetics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia., Ozretic D; Department for Diagnostic and Interventional Neuroradiology, University Hospital Centre Zagreb, 10000 Zagreb, Croatia., Prutki M; Department of Radiology, School of Medicine, University Hospital Center Zagreb, 10000 Zagreb, Croatia., Nie Q; Precision Medicine Laboratory, Medical College of Wisconsin, Milwaukee, WI 53226, USA., Reddi HV; Precision Medicine Laboratory, Medical College of Wisconsin, Milwaukee, WI 53226, USA., Ghazani AA; Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.; Harvard Medical School, Boston, MA 02115, USA.

المصدر: Genes [Genes (Basel)] 2024 Jul 19; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 19.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Prader-Willi Syndrome*/genetics , Prader-Willi Syndrome*/diagnosis , Prader-Willi Syndrome*/pathology , Calpain*/genetics , Chromosomes, Human, Pair 15*/genetics , Uniparental Disomy*/genetics, Humans ; Female ; Whole Genome Sequencing ; Male ; Muscle Proteins

المؤلفون: Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com., Wu FT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Pan YT; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Wu PS; Gene Biodesign Co. Ltd, Taipei, Taiwan., Yang CW; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan., Chiu CL; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan., Wang W; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.

المصدر: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Jul; Vol. 63 (4), pp. 549-551.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE

مواضيع طبية MeSH: Amniocentesis* , Mosaicism*/embryology , Trisomy*/diagnosis , Trisomy*/genetics , Chromosomes, Human, Pair 7*/genetics , Uniparental Disomy*/diagnosis , Uniparental Disomy*/genetics , Comparative Genomic Hybridization*, Humans ; Pregnancy ; Female ; Adult ; Infant, Newborn ; Cell Line ; Cells, Cultured ; Pregnancy Outcome/genetics

SCR Disease Name: Chromosome 7, trisomy mosaic

المؤلفون: Mukai T; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kato S; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Tanaka H; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kuroda Y; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kitaoka H; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Ito A; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Shitara Y; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kashima K; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Takami H; Department of Neurosurgery, The University of Tokyo Hospital, Tokyo, Japan., Takahashi N; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan., Kato M; Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jul; Vol. 12 (7), pp. e2452.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Glycosylphosphatidylinositols*/deficiency , Glycosylphosphatidylinositols*/genetics , Uniparental Disomy*/genetics , Uniparental Disomy*/pathology, Humans ; Male ; Carboxylic Ester Hydrolases ; Frameshift Mutation ; Homozygote ; Metabolism, Inborn Errors/genetics ; Metabolism, Inborn Errors/pathology ; Phosphorus Metabolism Disorders/genetics ; Phosphorus Metabolism Disorders/pathology ; Receptors, Cell Surface ; Seizures ; Infant, Newborn

SCR Disease Name: Glycosylphosphatidylinositol deficiency

المؤلفون: Nishino M; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan., Tanaka M; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan., Imagawa K; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan.; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan., Yaita K; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan., Enokizono T; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan., Ohto T; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan.; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan., Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Shinjuku City, Tokyo, Japan., Yamada M; Center for Medical Genetics, Keio University School of Medicine, Shinjuku City, Tokyo, Japan., Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Shinjuku City, Tokyo, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Shinjuku City, Tokyo, Japan., Takada H; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan.; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63575. Date of Electronic Publication: 2024 Feb 26.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: WW Domain-Containing Oxidoreductase*/genetics , Spasms, Infantile*/genetics , Spasms, Infantile*/drug therapy , Spasms, Infantile*/pathology , Uniparental Disomy*/genetics , Uniparental Disomy*/pathology , RNA Splice Sites*/genetics , Mutation*/genetics, Humans ; Female ; Infant ; Phenotype ; Exome Sequencing ; Electroencephalography ; Tumor Suppressor Proteins

SCR Disease Name: Infantile Epileptic-Dyskinetic Encephalopathy

المؤلفون: Liu Y; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, 300134, China.; Department of Nephrology, Tianjin Children's Hospital (Tianjin University Children's Hospital), No.238 Longyan Road, Beichen District, Tianjin, 300134, China., Sheng W; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, 300134, China., Hou S; School of Biomedical Engineering and Technology, Tianjin Medical University, Tianjin, 300070, China., Hou M; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), No.238 Longyan Road, Beichen District, Tianjin, 300134, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, 300134, China., Zhang Y; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, 300134, China., Wang X; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), No.238 Longyan Road, Beichen District, Tianjin, 300134, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, 300134, China., Zhang S; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, 300134, China., Zhou F; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, 300134, China., Cai C; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Tianjin University Children's Hospital), No.238 Longyan Road, Beichen District, Tianjin, 300134, China. cqcns6@126.com.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, 300134, China. cqcns6@126.com., Wang W; Department of Nephrology, Tianjin Children's Hospital (Tianjin University Children's Hospital), No.238 Longyan Road, Beichen District, Tianjin, 300134, China. docwwh@126.com.

المصدر: Biochemical genetics [Biochem Genet] 2024 Aug; Vol. 62 (4), pp. 2469-2481. Date of Electronic Publication: 2023 Nov 11.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0126611 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4927 (Electronic) Linking ISSN: 00062928 NLM ISO Abbreviation: Biochem Genet Subsets: MEDLINE

مواضيع طبية MeSH: Acidosis, Renal Tubular*/genetics , Sodium-Bicarbonate Symporters*/genetics , Uniparental Disomy*/genetics, Humans ; Mutation, Missense ; Male ; Female ; Exome Sequencing

المؤلفون: Cyto And Genomics Group Of Medical Genetics Branch Of Chinese Medical Association; Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450012, China. kongxd@263.net., Liu N, Shi P, Liu L, Kong X

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Jun 10; Vol. 41 (6), pp. 685-695.

نوع المنشور: Journal Article; English Abstract

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Prenatal Diagnosis* , Uniparental Disomy*/genetics , Uniparental Disomy*/diagnosis , Genetic Counseling* , Genomic Imprinting*, Humans ; Pregnancy ; Female ; Consensus ; Genetic Testing/methods ; Imprinting Disorders