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Academic Journal

Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study.

Subjects: DNA Copy Number Variations* ; Prenatal Diagnosis* ; Pregnancy Outcome*

  • Source: BMC pediatrics [BMC Pediatr] 2024 Aug 22; Vol. 24 (1), pp. 536. Date of Electronic Publication: 2024 Aug 22.Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431

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Academic Journal

Prevalence and prenatal diagnosis of congenital eye anomalies: A population-based study.

  • Authors : Maillet C; Department of Fetal Medicine, Sorbonne University, AP-HP Sorbonne University, Trousseau Hospital, Paris, France.; Guilbaud L

Subjects: Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/epidemiology ; Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/diagnosis ; Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/statistics & numerical data

  • Source: BJOG : an international journal of obstetrics and gynaecology [BJOG] 2024 Sep; Vol. 131 (10), pp. 1385-1391. Date of Electronic Publication: 2024 Mar 25.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 100935741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.

  • Authors : Jiang X; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China.; Liang B

Subjects: Chromosome Disorders*/Chromosome Disorders*/Chromosome Disorders*/genetics ; Chromosome Disorders*/Chromosome Disorders*/Chromosome Disorders*/diagnosis ; DNA Copy Number Variations*

  • Source: Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology [Chromosome Res] 2024 Jul 19; Vol. 32 (3), pp. 9. Date ofPublisher: Kluwer Academic Publishers Country of Publication: Netherlands NLM ID: 9313452 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis.

  • Authors : Abulí A; Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.

Subjects: Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods ; Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/standards ; High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/methods

  • Source: Journal of medical genetics [J Med Genet] 2024 Jul 19; Vol. 61 (8), pp. 727-733. Date of Electronic Publication: 2024 Jul 19.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype.

  • Authors : Ouyang L; Department of Obstetrics, Renmin Hospital, Hubei University of Medicine, Shiyan, Hubei, PR China.; Li Y

Subjects: Genetic Counseling* ; Phenotype* ; DNA Copy Number Variations*

  • Source: The Journal of international medical research [J Int Med Res] 2024 Aug; Vol. 52 (8), pp. 3000605241271837.Publisher: Sage Publications Country of Publication: England NLM ID: 0346411 Publication Model: Print Cited Medium: Internet ISSN: 1473-2300

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Academic Journal

Periventricular nodular heterotopia in patients with a prenatal diagnosis of myelomeningocele/myeloschisis: associations with seizures and neurodevelopmental outcomes during early childhood.

  • Authors : Flanders TM; Division of Neurosurgery, Department of Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA. .; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA, USA. .

Subjects: Seizures*/Seizures*/Seizures*/etiology ; Seizures*/Seizures*/Seizures*/diagnostic imaging ; Meningomyelocele*/Meningomyelocele*/Meningomyelocele*/complications

  • Source: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2024 Aug; Vol. 40 (8), pp. 2521-2526. Date of Electronic Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Perinatal palliative care for family with prenatal diagnosis of Matthew-Wood syndrome.

  • Authors : Korzeniewska-Eksterowicz A; Pediatric Palliative Care Unit, Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.; Pediatric Palliative Care Center, Gajusz Foundation, Lodz, Poland.

Subjects: Palliative Care* ; Prenatal Diagnosis* ; Perinatal Care*

  • Source: Journal of genetic counseling [J Genet Couns] 2024 Aug; Vol. 33 (4), pp. 927-930. Date of Electronic Publication: 2023 Oct 04.Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599

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Academic Journal

From prenatal diagnosis to surgical treatment: two case reports of congenital granular cell epulis.

  • Authors : Han Y; Department of Oral and Maxillofacial Surgery, Qi Lu Hospital of Shandong University, Jinan, Shandong, China.; Qiu W

Subjects: Granular Cell Tumor*/Granular Cell Tumor*/Granular Cell Tumor*/surgery ; Granular Cell Tumor*/Granular Cell Tumor*/Granular Cell Tumor*/pathology ; Granular Cell Tumor*/Granular Cell Tumor*/Granular Cell Tumor*/congenital

  • Source: Pathology oncology research : POR [Pathol Oncol Res] 2024 Jul 10; Vol. 30, pp. 1611834. Date of Electronic Publication: 2024 Jul 10 (Print Publication: 2024).Publisher: Frontiers Media S. A Country of Publication: Switzerland NLM ID: 9706087 Publication Model: eCollection Cited Medium: Internet ISSN:

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Academic Journal

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.

  • Authors : Pannier E; Département d'Obstétrique et Médecine Fœtale, Maternité Port-Royal, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, FHU PREMA, Paris, France.; Sekri A

Subjects: Mosaicism*/Mosaicism*/Mosaicism*/embryology ; Phenotype* ; Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods

  • Source: Birth defects research [Birth Defects Res] 2024 Jul; Vol. 116 (7), pp. e2380.Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Challenges of prenatal diagnosis in obese pregnant women.

  • Authors : Siddiqui F; Fetal and Maternal Medicine, University Hospitals of Leicester NHS Trust, UK. Electronic address: .; Kalache K

Subjects: Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods ; Pregnancy Complications*/Pregnancy Complications*/Pregnancy Complications*/diagnostic imaging ; Pregnancy Complications*/Pregnancy Complications*/Pregnancy Complications*/diagnosis

  • Source: Best practice & research. Clinical obstetrics & gynaecology [Best Pract Res Clin Obstet Gynaecol] 2024 Jul; Vol. 95, pp. 102470. Date of Electronic Publication: 2024 Mar 21.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101121582 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  261,578 results for ""PRENATAL diagnosis""