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Academic Journal

First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: Chromosomes, Human, Pair 1*/Chromosomes, Human, Pair 1*/Chromosomes, Human, Pair 1*/genetics ; Translocation, Genetic* ; Chromosome Deletion* Chromosome 1p36 Deletion Syndrome

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Nov; Vol. 63 (6), pp. 909-912.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 by chromosome microarray analysis in a second-trimester fetus with multiple congenital anomalies and a literature review of chromosome 5q interstitial deletion syndrome.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: Chromosome Deletion* ; Pregnancy Trimester, Second* ; Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Nov; Vol. 63 (6), pp. 918-921.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Genetic counseling of mosaicism for a deletion due to partial monosomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: Amniocentesis* ; Mosaicism*/Mosaicism*/Mosaicism*/embryology ; Genetic Counseling*

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Sep; Vol. 63 (5), pp. 628-632.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Prenatal diagnosis of familial 3p26.3p25.3 deletion in a pregnancy associated with a favorable fetal outcome and asymptomatic carrier parent and family members in three generations.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: Chromosomes, Human, Pair 3*/Chromosomes, Human, Pair 3*/Chromosomes, Human, Pair 3*/genetics ; Amniocentesis* ; Chromosome Deletion*

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Jul; Vol. 63 (4), pp. 561-564.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Mosaic distal 9p deletion or 46,XY,del(9)(p23)/46,XY at amniocentesis in a pregnancy associated with perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: Amniocentesis* ; Mosaicism*/Mosaicism*/Mosaicism*/embryology ; Chromosomes, Human, Pair 9*/Chromosomes, Human, Pair 9*/Chromosomes, Human, Pair 9*/genetics Chromosome 9p Deletion Syndrome

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Jul; Vol. 63 (4), pp. 540-544.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Prenatal diagnosis of a de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis and right clubfoot on prenatal ultrasound.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: Clubfoot*/Clubfoot*/Clubfoot*/genetics ; Clubfoot*/Clubfoot*/Clubfoot*/diagnostic imaging ; Ultrasonography, Prenatal*

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Jul; Vol. 63 (4), pp. 545-548.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Incidental detection of a de novo 16p13.3 microdeletion encompassing PKD1 and a familial Yq11.223 microdeletion encompassing DAZ1 in a fetus with encephalocele on prenatal ultrasound and amniotic band syndrome.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: Ultrasonography, Prenatal* ; Encephalocele*/Encephalocele*/Encephalocele*/genetics ; Encephalocele*/Encephalocele*/Encephalocele*/diagnostic imaging

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 May; Vol. 63 (3), pp. 428-430.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Review

Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: 17-Hydroxysteroid Dehydrogenases* ; Chromosome Deletion* ; Prenatal Diagnosis* Renal Adysplasia

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Jan; Vol. 63 (1), pp. 77-80.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Prenatal diagnosis of a 2.14-Mb familial 6q14.1 deletion encompassing the gene of HTR1B with apparently normal phenotype.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: Prenatal Diagnosis* ; Chromosome Deletion*; Pregnancy

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2023 Jul; Vol. 62 (4), pp. 611-612.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis.

  • Authors : Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Subjects: Amniocentesis* ; Chromosome Deletion*; Pregnancy

  • Source: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2023 Jan; Vol. 62 (1), pp. 128-131.Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN:

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  • 1-10 of  34 results for ""Community Health Nursing""