Trisomy 7 mosaicism: prognosis after prenatal diagnosis

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

American journal of human genetics·2016

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence.

Annual review of genomics and human genetics·2015

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Circulation research·2014

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

PLoS genetics·2014

Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss.

Human genetics·2014

Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.

Menopause (New York, N.Y.)·2014

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases.

Prenatal diagnosis·2026

Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio.

Prenatal diagnosis·2026

Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium.

Prenatal diagnosis·2026

Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases.

Prenatal diagnosis·2026

When Fetal Anomalies Lead to Prognostic Clarification: An Underrecognized Application of Exome Sequencing.

Prenatal diagnosis·2026

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Prenatal diagnosis·2026

Domains and outcome measures for the assessment of digital vasculopathy and Raynaud's phenomenon in adult and juvenile systemic sclerosis: a scoping literature review.

Clinical and experimental rheumatology·2026

Conicity Index and Other Anthropometric Indices in Relation to Visceral Fat Percentage in Adolescents with Overweight or Obesity: A Cross-Sectional Study.

Cureus·2026

Combined Tibial Tubercle Fracture and Patellar Tendon Rupture in Adolescents: A Report of Three Cases Highlighting Fragment Rotation as a Diagnostic Clue.

Cureus·2026

Real-World Evidence on Short-Term Weight Changes Following Methylphenidate Use in Pediatric Population: A Retrospective Study Using Common Data Model.

Clinical and translational science·2026

Higher polygenic scores for C-reactive protein is associated with lower striatal reward magnitude coding in early adolescents.

Brain, behavior, and immunity·2026

Acute sacral osteomyelitis mimicking hip pathology in a child: A diagnostic challenge.

Radiology case reports·2026

Related Experiment Videos

Trisomy 7 mosaicism: prognosis after prenatal diagnosis

Related Concept Videos

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss.

Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age.

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases.

Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio.

Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium.

Maternal Sirolimus Therapy for Fetal Extensive Lymphatic Cystic Malformation: Selection Criteria, Management, and Outcomes in a Series of Six Cases.

When Fetal Anomalies Lead to Prognostic Clarification: An Underrecognized Application of Exome Sequencing.

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

Domains and outcome measures for the assessment of digital vasculopathy and Raynaud's phenomenon in adult and juvenile systemic sclerosis: a scoping literature review.

Conicity Index and Other Anthropometric Indices in Relation to Visceral Fat Percentage in Adolescents with Overweight or Obesity: A Cross-Sectional Study.

Combined Tibial Tubercle Fracture and Patellar Tendon Rupture in Adolescents: A Report of Three Cases Highlighting Fragment Rotation as a Diagnostic Clue.

Real-World Evidence on Short-Term Weight Changes Following Methylphenidate Use in Pediatric Population: A Retrospective Study Using Common Data Model.

Higher polygenic scores for C-reactive protein is associated with lower striatal reward magnitude coding in early adolescents.

Acute sacral osteomyelitis mimicking hip pathology in a child: A diagnostic challenge.

Related Experiment Videos

Trisomy 7 mosaicism: prognosis after prenatal diagnosis

Related Concept Videos

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