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Academic Journal

[Comprehensive diagnosis and genetic analysis of two children with ring chromosome 18].

  • Authors : Ding Z; Institute of Pediatric Medicine, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China. .; Mei S

Subjects: Chromosomes, Human, Pair 18*/Chromosomes, Human, Pair 18*/Chromosomes, Human, Pair 18*/genetics ; Ring Chromosomes* ; Karyotyping*Chromosome 18 ring

  • Source: 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 Sep 10; Vol. 41 (9), pp. 1110-1116.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

Two recurrent types of IGH ::5' BCL2 breakpoints representing cytogenetic ins(14;18)(q32;q21q21) and t(14;18)(q32;q21), mediated by the VDJ and class switch recombination processes, respectively.

  • Authors : Maekawa F; Tenri Institute of Medical Research, Tenri Hospital, Tenri, Nara, Japan.; Hayashida M

Subjects: Chromosomes, Human, Pair 14*/Chromosomes, Human, Pair 14*/Chromosomes, Human, Pair 14*/genetics ; Translocation, Genetic* ; Chromosomes, Human, Pair 18*/Chromosomes, Human, Pair 18*/Chromosomes, Human, Pair 18*/genetics

  • Source: Leukemia & lymphoma [Leuk Lymphoma] 2024 Aug; Vol. 65 (8), pp. 1100-1109. Date of Electronic Publication: 2024 Apr 12.Publisher: Taylor & Francis Country of Publication: United States NLM ID: 9007422 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Trochlear nerve agenesis in a patient with 18q22.2q23 deletion.

  • Authors : Yang HK; Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 82, Gumi-Ro 173 Beon-Gil, Bundang-Gu, Seongnam-Si, 13620, Gyeonggi-Do, Korea.; Kim HY

Subjects: Chromosome Deletion* ; Chromosomes, Human, Pair 18*/Chromosomes, Human, Pair 18*/Chromosomes, Human, Pair 18*/genetics; Humans

  • Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Aug; Vol. 45 (8), pp. 4083-4085. Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Prenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review.

  • Authors : Xu T; Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, China.; Jilin Engineering Research Center for Reproductive Medicine and Genetics, Jilin University, Changchun, China.

Subjects: Chromosomes, Human, Pair 18*/Chromosomes, Human, Pair 18*/Chromosomes, Human, Pair 18*/genetics ; Chromosome Deletion* ; Microarray Analysis*/Microarray Analysis*/Microarray Analysis*/methods Chromosome 18p deletion syndrome; Chromosome 18 deletion syndrome

  • Source: Medicine [Medicine (Baltimore)] 2024 Jul 26; Vol. 103 (30), pp. e39046.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency.

  • Authors : Hashiguchi S; Department of Pediatrics, Yamabiko Medical Welfare Center, Kagoshima, Japan.; Tomomasa D

Subjects: Chromosome Deletion* ; Chromosomes, Human, Pair 18*/Chromosomes, Human, Pair 18*/Chromosomes, Human, Pair 18*/genetics ; Chromosome Disorders*/Chromosome Disorders*/Chromosome Disorders*/diagnosis Chromosome 18 deletion syndrome

  • Source: Journal of clinical immunology [J Clin Immunol] 2024 Jun 19; Vol. 44 (7), pp. 154. Date of Electronic Publication: 2024 Jun 19.Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592

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Academic Journal

[Genetic analysis of a fetus with Pitt-Hopkins syndrome due to a 18q21.2q21.31 microdeletion].

  • Authors : Zhang Y; Center of Prenatal Diagnosis, the Affiliated Hospital of Putian College, Putian, Fujian 351100, China. .; Zeng L

Subjects: Chromosome Deletion* ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Karyotyping* Pitt-Hopkins syndrome

  • Source: 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 May 10; Vol. 41 (5), pp. 622-625.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

Structured Framework for Multidisciplinary Parent Counseling and Medical Interventions for Fetuses and Infants with Trisomy 13 or Trisomy 18.

  • Authors : Kim AJH; Department of Pediatrics, Oregon Health and Science University, Portland, Oregon.; Marshall M

Subjects: Trisomy 18 Syndrome*/Trisomy 18 Syndrome*/Trisomy 18 Syndrome*/therapy ; Trisomy 18 Syndrome*/Trisomy 18 Syndrome*/Trisomy 18 Syndrome*/diagnosis ; Trisomy 13 Syndrome*/Trisomy 13 Syndrome*/Trisomy 13 Syndrome*/therapy

  • Source: American journal of perinatology [Am J Perinatol] 2024 May; Vol. 41 (S 01), pp. e2666-e2673. Date of Electronic Publication: 2023 Aug 24.Publisher: Thieme-Stratton Country of Publication: United States NLM ID: 8405212 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Structural variants in the Epb41l4a locus: TAD disruption and Nrep gene misregulation as hypothetical drivers of neurodevelopmental outcomes.

  • Authors : Salnikov P; Institute of Cytology and Genetics SB RAS, Novosibirsk, Russia.; Novosibirsk State University, Novosibirsk, Russia.

Subjects: Chromatin* ; Chromosomes, Human, Pair 18*; Humans

  • Source: Scientific reports [Sci Rep] 2024 Mar 04; Vol. 14 (1), pp. 5288. Date of Electronic Publication: 2024 Mar 04.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Genetic analysis of a case with mosaicism complex structural aberration of chromosome 18].

  • Authors : Shao M; Center for Reproductive Medicine, Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetrics and Gynecology, MOE Key Laboratory for Assisted Reproduction, Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Peking University Third Hospital, Beijing 100191, China. .; Yan Z

Subjects: Mosaicism* ; Chromosomes, Human, Pair 18*/Chromosomes, Human, Pair 18*/Chromosomes, Human, Pair 18*/genetics; Male

  • Source: 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 Jan 10; Vol. 41 (1), pp. 101-105.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

The molecular mechanisms of recombinant chromosome 18 with parental pericentric inversions and a review of the literature.

  • Authors : Wang L; Prenatal Diagnosis Center, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, 611731, China. .; Dong B

Subjects: Chromosomes, Human, Pair 18* ; Gene Rearrangement*; Humans

  • Source: Journal of human genetics [J Hum Genet] 2023 Sep; Vol. 68 (9), pp. 625-634. Date of Electronic Publication: 2023 May 10.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  5,152 results for ""Chromosomes, Human, Pair 18""