المؤلفون: Burnside RD; Department of Cytogenetics, Laboratory Corporation of America, Center for Molecular Biology and Pathology, Research Triangle Park, NC 27709, USA. burnsir@labcorp.com, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Apr; Vol. 161A (4), pp. 822-8. Date of Electronic Publication: 2013 Mar 12.

نوع المنشور: Case Reports; Journal Article

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: Chromosome Deletion* , Phenotype*, Heart Defects, Congenital/*genetics, Abnormalities, Multiple/genetics ; Adult ; Child, Preschool ; Chromosomes, Human, Pair 8 ; Facies ; Female ; GATA4 Transcription Factor/genetics ; Genome-Wide Association Study ; Heart Defects, Congenital/diagnosis ; Humans ; Male ; Microsatellite Repeats ; Polymorphism, Single Nucleotide ; User-Computer Interface

SCR Disease Name: Chromosome 8, monosomy 8p

المؤلفون: Papenhausen P; Laboratory Corporation of Cytogenetics Triangle Park, North Carolina, USA. papenhp@labcorp.com, Schwartz S, Risheg H, Keitges E, Gadi I, Burnside RD, Jaswaney V, Pappas J, Pasion R, Friedman K, Tepperberg J

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2011 Apr; Vol. 155A (4), pp. 757-68. Date of Electronic Publication: 2011 Mar 15.

نوع المنشور: Journal Article

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: Homozygote* , Oligonucleotide Array Sequence Analysis*, Polymorphism, Single Nucleotide/*genetics , Uniparental Disomy/*diagnosis , Uniparental Disomy/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Chromosomes, Human, Pair 15/genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Microsatellite Repeats/genetics ; Young Adult

المؤلفون: Tang, Fei, Wang, Zhonghua, Sun, Yan, Fan, Linlin, Yang, Yun, Guo, Xueqin, Wang, Yaoshen, Yan, Saiying, Qiao, Zhihong, Li, Yun, Jiang, Ting, Wang, Xiaoli, Man, Jianfen, Wang, Lina, Wang, Shunyao, Peng, Huanhuan, Peng, Zhiyu, Xie, Xiaoyuan, Song, Lijie

المصدر: BMC Genomics; 5/14/2024, Vol. 25 Issue 1, p1-10, 10p

مصطلحات موضوعية: RECURRENT neural networks, WHOLE genome sequencing, X chromosome, GENETIC testing, HETEROZYGOSITY, HAPLOTYPES

المؤلفون: Mim, Rabeya Akter, Soorajkumar, Anjana, Kosaji, Noor, Rahman, Muhammad Mizanur, Sarker, Shaoli, Karuvantevida, Noushad, Eshaque, Tamannyat Binte, Rahaman, Md Atikur, Islam, Amirul, Chowdhury, Mohammod Shah Jahan, Shams, Nusrat, Uddin, K. M. Furkan, Akter, Hosneara, Uddin, Mohammed

المصدر: Brain & Behavior; Apr2024, Vol. 14 Issue 4, p1-13, 13p

المؤلفون: Crowe CA; Department of Pediatrics, Metrohealth Medical Center, Cleveland, Ohio 44109-1998, USA., Schwartz S, Black CJ, Jaswaney V

المصدر: American journal of medical genetics [Am J Med Genet] 1997 Sep 05; Vol. 71 (4), pp. 406-13.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 22* , Mosaicism* , Trisomy*, Adult ; Child, Preschool ; Chromosome Mapping ; Diagnosis, Differential ; Female ; Fibroblasts ; Genetic Markers ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Lymphocytes ; Male

المؤلفون: Fechner PY; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287., Marcantonio SM, Jaswaney V, Stetten G, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD, Amrhein JA, Bard PA, et. al.

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 1993 Mar; Vol. 76 (3), pp. 690-5.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Print ISSN: 0021-972X (Print) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Genes* , Sex Determination Analysis* , X Chromosome* , Y Chromosome*, Sex Chromosome Aberrations/*genetics, DNA Restriction Enzymes ; Humans ; In Situ Hybridization ; Infant ; Infertility, Male/genetics ; Karyotyping ; Male ; Polymerase Chain Reaction

المؤلفون: Trevisan, Valentina, Meroni, Anna, Leoni, Chiara, Sirchia, Fabio, Politano, Davide, Fiandrino, Giacomo, Giorgio, Valentina, Rigante, Donato, Limongelli, Domenico, Perri, Lucrezia, Sforza, Elisabetta, Leonardi, Francesca, Viscogliosi, Germana, Contaldo, Ilaria, Orteschi, Daniela, Proietti, Luca, Zampino, Giuseppe, Onesimo, Roberta

المصدر: Genes; Mar2024, Vol. 15 Issue 3, p346, 22p

مصطلحات موضوعية: TRISOMY, MOSAICISM, DELAYED diagnosis, GENETIC counseling, NATURAL history, HEART abnormalities

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المؤلفون: Maya I; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.; School of Medicine, Faculty of Medical and Health sciences, Tel Aviv University, Tel Aviv, Israel., Levy M; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel., Matar R; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel., Kahana S; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel., Agmon-Fishman I; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel., Klein C; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel., Gurevitch M; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel., Basel-Salmon L; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva, Israel.; School of Medicine, Faculty of Medical and Health sciences, Tel Aviv University, Tel Aviv, Israel.; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.; Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel., Sagi-Dain L; Genetics Institute, Carmel Medical Center, Affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug 15, pp. e63839. Date of Electronic Publication: 2024 Aug 15.

نوع المنشور: Journal Article

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

المؤلفون: Kaltsas, Aris, Dimitriadis, Fotios, Zachariou, Dimitrios, Zikopoulos, Athanasios, Symeonidis, Evangelos N., Markou, Eleftheria, Tien, Dung Mai Ba, Takenaka, Atsushi, Sofikitis, Nikolaos, Zachariou, Athanasios

المصدر: Medicina (1010660X); Oct2023, Vol. 59 Issue 10, p1835, 27p

مصطلحات موضوعية: UROLOGISTS, REPRODUCTIVE technology, FERTILITY clinics, MALE infertility, INFERTILITY, MEDICAL personnel, SEDENTARY behavior, FERTILITY, SUBSTANCE abuse