Showing 1 - 11 results of 11 for search '"17p13.3"', query time: 0.89s Refine Results
  1. 1
    Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience

    Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience by Bin Liang, Donghong Yu, Wantong Zhao, Yan Wang, Xiaoqing Wu, Lingji Chen, Na Lin, Hailong Huang, Liangpu Xu

    Published 2022-12-01
    Subjects:
    Get full text
    Article
  2. 2
    Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

    Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication by Jorge Diogo Da Silva, Diana Gonzaga, Ana Barreta, Hildeberto Correia, Ana Maria Fortuna, Ana Rita Soares, Nataliya Tkachenko

    Published 2022-11-01
    Subjects: “…17p13.3 microduplication…”
    Get full text
    Article
  3. 3
    Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

    Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3 by Sara M. Blazejewski, Sarah A. Bennison, Trevor H. Smith, Kazuhito Toyo-oka

    Published 2018-03-01
    Subjects: “…17p13.3…”
    Get full text
    Article
  4. 4
    A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization

    A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization by Zhanna G. Markova, Marina E. Minzhenkova, Lyudmila A. Bessonova, Nadezda V. Shilova

    Published 2021-08-01
    Subjects: “…17p13.3p13.1 microduplication…”
    Get full text
    Article
  5. 5
    Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities

    Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities by Chih-Ping Chen, Tsang-Ming Ko, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Chen-Chi Lee, Wayseen Wang

    Published 2018-02-01
    Subjects: “…17p13.3 microdeletion…”
    Get full text
    Article
  6. 6
    Pleural metastases exhibiting high-grade endometrial stromal sarcoma with both rearrangement of the YWHAE gene and BCORL1 alteration

    Pleural metastases exhibiting high-grade endometrial stromal sarcoma with both rearrangement of the YWHAE gene and BCORL1 alteration by Ashley Re, David Warshal, Miriam Enrique, Shuyue Ren

    Published 2022-06-01
    Subjects:
    Get full text
    Article
  7. 7
    Identification of a rare 17p13.3 duplication including the <it>BHLHA9</it> and <it>YWHAE</it> genes in a family with developmental delay and behavioural problems

    Identification of a rare 17p13.3 duplication including the <it>BHLHA9</it> and <it>YWHAE</it> genes in a family with developmental delay and behavioural problems by Capra Valeria, Mirabelli-Badenier Marisol, Stagnaro Michela, Rossi Andrea, Tassano Elisa, Gimelli Stefania, Gimelli Giorgio

    Published 2012-10-01
    Subjects: “…Familial 17p13.3 duplication syndrome…”
    Get full text
    Article
  8. 8
    Prenatal Diagnosis of Monosomy 17p (17p 13.3 → pter) Associated With Polyhydramnios, Intrauterine Growth Restriction, Ventriculomegaly, and Miller-Dieker Lissencephaly Syndrome in a Fetus

    Prenatal Diagnosis of Monosomy 17p (17p 13.3 → pter) Associated With Polyhydramnios, Intrauterine Growth Restriction, Ventriculomegaly, and Miller-Dieker Lissencephaly Syndrome in... by Chin-Yi Lin, Chih-Ping Chen, Chiung-Ling Liau, Pen-Hua Su, Teng-Fu Tsao, Tung-Yao Chang, Wayseen Wang

    Published 2009-12-01
    Subjects: “…chromosome 17p13.3 deletion…”
    Get full text
    Article
  9. 9
    17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype

    17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotyp... by Yuqi Shen, Nuo Si, Zhe Liu, Fang Liu, Xiaolu Meng, Ying Zhang, Xue Zhang

    Published 2018-07-01
    Subjects:
    Get full text
    Article
  10. 10
    Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

    Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature by Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit, Vajira Harshadeva Weerabaddana Dissanayake

    Published 2019-06-01
    Subjects:
    Get full text
    Article
  11. 11
    Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond <i>Pafah1b1(Lis1)</i>, <i>Crk</i> and <i>Ywhae(14-3-3ε)</i>

    Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond <i>Pafah1b1(Lis1)</i>, <i>Crk</i> and <i>Ywhae(14-3-3ε)</i> by Xiaonan Liu, Sarah A. Bennison, Lozen Robinson, Kazuhito Toyo-oka

    Published 2021-12-01
    Subjects:
    Get full text
    Article

Search Tools: