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200 related items for PubMed ID: 33678339

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
    Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V.
    Am J Med Genet A; 2018 Jul; 176(7):1549-1558. PubMed ID: 30160831
    [Abstract] [Full Text] [Related]

  • 3. Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 15q24 microdeletion.
    Chen CP, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Pan CW, Wang W.
    Taiwan J Obstet Gynecol; 2020 May; 59(3):432-436. PubMed ID: 32416893
    [Abstract] [Full Text] [Related]

  • 4. Tetrasomy of 11q13.4-q14.3 due to an intrachromosomal triplication associated with paternal uniparental isodisomy for 11q14.3-qter, intrauterine growth restriction, developmental delay, corpus callosum dysgenesis, microcephaly, congenital heart defects and facial dysmorphism.
    Chen CP, Lin SP, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Wang W.
    Taiwan J Obstet Gynecol; 2021 Jan; 60(1):169-172. PubMed ID: 33494996
    [Abstract] [Full Text] [Related]

  • 5. Prenatal diagnosis and molecular cytogenetic characterization of a de novo 3.19-Mb chromosome 14q32.13-q32.2 deletion of paternal origin.
    Chen CP, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Chen WL, Chen LF, Wang W.
    Taiwan J Obstet Gynecol; 2020 Sep; 59(5):766-769. PubMed ID: 32917334
    [Abstract] [Full Text] [Related]

  • 6. Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf-Hirschhorn syndrome.
    Yang WX, Pan H, Wang ST, Li L, Wu HR, Qi Y.
    Taiwan J Obstet Gynecol; 2016 Feb; 55(1):104-8. PubMed ID: 26927259
    [Abstract] [Full Text] [Related]

  • 7. Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3-q44 deletion in a fetus associated with ventriculomegaly on prenatal ultrasound.
    Chen CP, Ko TM, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Chen WL, Wang W.
    Taiwan J Obstet Gynecol; 2020 Jul; 59(4):598-603. PubMed ID: 32653137
    [Abstract] [Full Text] [Related]

  • 8. Wolf-Hirschhorn syndrome: Prenatal diagnosis and molecular cytogenetic characterization of a de novo distal deletion of 4p (4p16.1 → pter) in a fetus with facial cleft and preaxial polydactyly.
    Chen CP, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen LF, Chen YY, Wang W.
    Taiwan J Obstet Gynecol; 2020 May; 59(3):425-431. PubMed ID: 32416892
    [Abstract] [Full Text] [Related]

  • 9. Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound.
    Chen CP, Chang SY, Wang LK, Chang TY, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Town DD, Chen LF, Wang W.
    Taiwan J Obstet Gynecol; 2018 Oct; 57(5):730-733. PubMed ID: 30342661
    [Abstract] [Full Text] [Related]

  • 10. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
    Chen CP, Lin SP, Chern SR, Wu PS, Su JW, Lee CC, Wang W.
    Taiwan J Obstet Gynecol; 2014 Mar; 53(1):74-8. PubMed ID: 24767651
    [Abstract] [Full Text] [Related]

  • 11. Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects.
    Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Wu FT, Chen LF, Wang W.
    Taiwan J Obstet Gynecol; 2019 Sep; 58(5):704-708. PubMed ID: 31542097
    [Abstract] [Full Text] [Related]

  • 12. Psychomotor retardation with a 1q42.11-q42.12 deletion.
    He J, Xie Y, Kong S, Qiu W, Wang X, Wang D, Sun X, Sun D.
    Hereditas; 2017 Sep; 154():6. PubMed ID: 28286461
    [Abstract] [Full Text] [Related]

  • 13. [Clinical and genetic analysis of a boy with 9q34.3 microdeletion syndrome].
    Wu D, Li T, Wang H, Shi W, Hou Q, Zhang H, Wang T, Yang Y, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Dec 10; 34(6):849-852. PubMed ID: 29188614
    [Abstract] [Full Text] [Related]

  • 14. Prenatal diagnosis of a 15q11.2-q14 deletion of paternal origin associated with increased nuchal translucency, mosaicism for de novo multiple unbalanced translocations involving 15q11-q14, 5qter, 15qter, 17pter and 3qter and Prader-Willi syndrome.
    Chen CP, Lin MH, Chen YY, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Lee MS, Pan CW, Wang W.
    Taiwan J Obstet Gynecol; 2021 Mar 10; 60(2):335-340. PubMed ID: 33678338
    [Abstract] [Full Text] [Related]

  • 15. Pure partial monosomy 3p (3p25.3 → pter): prenatal diagnosis and array comparative genomic hybridization characterization.
    Chen CP, Su YN, Chen CY, Su JW, Chern SR, Town DD, Wang W.
    Taiwan J Obstet Gynecol; 2012 Sep 10; 51(3):435-9. PubMed ID: 23040932
    [Abstract] [Full Text] [Related]

  • 16. The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
    Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.
    Genet Med; 2007 Sep 10; 9(9):607-16. PubMed ID: 17873649
    [Abstract] [Full Text] [Related]

  • 17. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
    Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE.
    Epilepsia; 2021 Jan 10; 62(1):e13-e21. PubMed ID: 33280099
    [Abstract] [Full Text] [Related]

  • 18. Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot.
    Chen CP, Chen CY, Chern SR, Wu PS, Chen YN, Chen SW, Chen LF, Yang CW, Wang W.
    Taiwan J Obstet Gynecol; 2016 Apr 10; 55(2):270-4. PubMed ID: 27125413
    [Abstract] [Full Text] [Related]

  • 19. 16p11.2 microdeletion syndrome: a case report.
    Dell'Edera D, Dilucca C, Allegretti A, Simone F, Lupo MG, Liccese C, Davanzo R.
    J Med Case Rep; 2018 Apr 03; 12(1):90. PubMed ID: 29609622
    [Abstract] [Full Text] [Related]

  • 20. Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly.
    Chen CP, Huang JP, Chen YY, Chen SW, Chern SR, Wu PS, Wu FT, Pan YT, Chen WL, Pan CW, Wang W.
    Taiwan J Obstet Gynecol; 2023 May 03; 62(3):453-456. PubMed ID: 37188453
    [Abstract] [Full Text] [Related]

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