These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

507 related items for PubMed ID: 30342661

  • 1. 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]

  • 2. Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay.
    Chen CP, Lin SP, Lee CL, Chern SR, Wu PS, Chen YN, Chen SW, Wang W.
    Taiwan J Obstet Gynecol; 2017 Feb; 56(1):93-97. PubMed ID: 28254235
    [Abstract] [Full Text] [Related]

  • 3. The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes.
    Rafi SK, Butler MG.
    Int J Mol Sci; 2020 May 06; 21(9):. PubMed ID: 32384786
    [Abstract] [Full Text] [Related]

  • 4. Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus.
    Chen CP, Ko TM, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Town DD, Chen LF, Wang W.
    Taiwan J Obstet Gynecol; 2021 May 06; 60(3):534-539. PubMed ID: 33966743
    [Abstract] [Full Text] [Related]

  • 5. Prenatal diagnosis of a familial normal euchromatic variant of dup(15)(q11.2q11.2) in a pregnancy with a favorable outcome.
    Chen CP, Ko TM, Huang JP, Chern SR, Wu PS, Chen SW, Wu FT, Chen WL, Lee MS, Wang W.
    Taiwan J Obstet Gynecol; 2020 Sep 06; 59(5):770-772. PubMed ID: 32917335
    [Abstract] [Full Text] [Related]

  • 6. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
    Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J.
    Eur J Med Genet; 2015 Mar 06; 58(3):140-7. PubMed ID: 25596525
    [Abstract] [Full Text] [Related]

  • 7. 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 06; 60(2):335-340. PubMed ID: 33678338
    [Abstract] [Full Text] [Related]

  • 8. Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis.
    Chu FC, Shaw SW, Lee CH, Lo LM, Hsu JJ, Hung TH.
    Genes (Basel); 2021 Sep 23; 12(10):. PubMed ID: 34680874
    [Abstract] [Full Text] [Related]

  • 9. Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.
    Cai M, Lv A, Zhao W, Xu L, Lin N, Huang H.
    BMC Pregnancy Childbirth; 2024 Jan 03; 24(1):23. PubMed ID: 38172840
    [Abstract] [Full Text] [Related]

  • 10. Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound.
    Chen CP, Chang SY, Chen YN, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Chen LF, Wang W.
    Taiwan J Obstet Gynecol; 2018 Oct 03; 57(5):739-744. PubMed ID: 30342663
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. Magnesium Supplement and the 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: A Potential Treatment?
    Butler MG.
    Int J Mol Sci; 2019 Jun 14; 20(12):. PubMed ID: 31207912
    [Abstract] [Full Text] [Related]

  • 13. Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities.
    Chen CP, Ko TM, Wang LK, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Lee CC, Wang W.
    Taiwan J Obstet Gynecol; 2018 Feb 14; 57(1):128-132. PubMed ID: 29458882
    [Abstract] [Full Text] [Related]

  • 14. Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound.
    Chen CP, Chang SY, Lin CJ, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Chen WL, Yang CW, Wang W.
    Taiwan J Obstet Gynecol; 2018 Oct 14; 57(5):734-738. PubMed ID: 30342662
    [Abstract] [Full Text] [Related]

  • 15. Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.
    Zhuang J, Zhang N, Fu W, Jiang Y, Chen Y, Chen C.
    Mol Cytogenet; 2024 Sep 02; 17(1):20. PubMed ID: 39218907
    [Abstract] [Full Text] [Related]

  • 16. 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 02; 59(3):432-436. PubMed ID: 32416893
    [Abstract] [Full Text] [Related]

  • 17. Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction.
    Chen CP, Su YN, Chen YY, Chern SR, Liu YP, Wu PC, Lee CC, Chen YT, Wang W.
    Taiwan J Obstet Gynecol; 2011 Sep 02; 50(3):345-52. PubMed ID: 22030051
    [Abstract] [Full Text] [Related]

  • 18. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
    Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Chen LF, Wang W.
    Taiwan J Obstet Gynecol; 2017 Dec 02; 56(6):821-826. PubMed ID: 29241927
    [Abstract] [Full Text] [Related]

  • 19. Prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction, congenital diaphragmatic hernia and congenital heart defects.
    Chen CP, Huang JP, Chen SW, Chern SR, Wu PS, Wu FT, Chen WL, Chen LF, Wang W.
    Taiwan J Obstet Gynecol; 2020 Jan 02; 59(1):135-139. PubMed ID: 32039782
    [Abstract] [Full Text] [Related]

  • 20. De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: prenatal diagnosis and molecular cytogenetic characterization.
    Chen CP, Fu CH, Chern SR, Wu PS, Su JW, Lee CC, Lee MS, Wang W.
    Taiwan J Obstet Gynecol; 2013 Sep 02; 52(3):401-6. PubMed ID: 24075381
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 26.