Buchumschlag

PIGO Gene Variants: New Insights Into Prenatal Diagnosis

Fuente: Wiley Open Access

Gespeichert in:

Bibliographische Detailangaben
Hauptverfasser:	A. Zambiasi, J. Aziza, N. Chassaing, M. Lebrun, A. Sartor, M. Langeois, C. Dubucs
Format:	Artículo Open Access
Veröffentlicht:	Wiley 2025
Schlagworte:	Prenatal Diagnosis
Online-Zugang:	Acceder al recurso
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights
von: Maud Langeois, et al.
Veröffentlicht: (2026)

Novel Missense Variant in the FGFR1 Gene Associated With Prenatal Diagnosis of Hartsfield Syndrome
von: Mia B. Hodges, et al.
Veröffentlicht: (2025)

Prenatal Diagnosis of Warsaw Breakage Syndrome: Fetal Compound Heterozygous Variants in the DDX11 Gene Associated With Growth Restriction, Cerebral, and Extra‐Cerebral Malformations
von: C. Kratochwila, et al.
Veröffentlicht: (2024)

Prenatal Ultrasound in the Diagnosis of Anorectal Malformations: Correlating Prenatal Signs With Postnatal Outcomes
von: D. Huijgen, et al.
Veröffentlicht: (2024)

Shortened and Hypomineralized Bones, Renal Agenesis, and a Heart Defect: Prenatal Diagnosis of a GLI3 Variant
von: Alexandra M. Dinu, et al.
Veröffentlicht: (2025)

Prenatal Diagnosis of Shwachman–Diamond Syndrome: Fetal Compound Heterozygous Variants in the SBDS Gene Associated With Mildly Straight Ribs
von: Linyan Zhu, et al.
Veröffentlicht: (2025)

The Importance of Clinical Acumen for Prenatal Diagnosis in an Increasingly Technological World
von: Teresa N. Sparks, et al.
Veröffentlicht: (2025)

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant
von: Tamara Casteleyn, et al.
Veröffentlicht: (2025)

Prenatal Diagnosis of Ververi‐Brady Syndrome Associated With a Novel Nonsense QRICH1 Variant: A Case Presentation
von: Hong‐Yu Luo, et al.
Veröffentlicht: (2026)

Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly
von: Hadas Miremberg, et al.
Veröffentlicht: (2024)

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
von: Connor Hartzell, et al.
Veröffentlicht: (2025)

International Society for Prenatal Diagnosis 2024 Debate 3—Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies
von: Yassmine M. N. Akkari, et al.
Veröffentlicht: (2025)

Parental Somatic Mosaicism Detected During Prenatal Diagnosis
von: Natalie J. Chandler, et al.
Veröffentlicht: (2024)

Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant
von: Haley M. Crane, et al.
Veröffentlicht: (2026)

The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome‐SHS
von: Charlène Daval, et al.
Veröffentlicht: (2025)

Prenatal Ultrasound Observations and Postnatal Manifestations Linked to PIGW Variants
von: Xin Chen, et al.
Veröffentlicht: (2025)

Reporting Criteria for Prenatally Identified Variants of Uncertain Significance Differs Among Cytogenetics Laboratories in North America
von: Matthew A. Shear, et al.
Veröffentlicht: (2025)

Prenatal Diagnosis of Verheij Syndrome Associated With PUF60 Variants Presented With Ventricular Septal Defect and Scoliosis Identified by First Trimester Ultrasound
von: Ru Li, et al.
Veröffentlicht: (2025)

A Novel Homozygous Frameshift Variant in the FLVCR1 Gene Is Associated With Prenatal Microcephaly, Multiple Brain Structural Anomalies, and Abnormal Foot Posture
von: Jing Chen, et al.
Veröffentlicht: (2025)

Fetal Anemia and Periventricular Hyperechogenicity/Halo as a Prenatal Indicator of CoQ10 Deficiency Associated With Biallelic Variant in COQ2 Gene
von: Shreyasi Sharma, et al.
Veröffentlicht: (2025)

Evaluation of Maternal Safety Following Prenatal Cell and Gene Therapy for Hemophilia A
von: Quan Minh Pham, et al.
Veröffentlicht: (2026)

Maternal Mosaicism Challenges in Non‐Invasive Prenatal Diagnosis
von: Margot Comel, et al.
Veröffentlicht: (2025)

Prenatal Diagnosis of Caroli's Disease by Ultrasound and MRI Imaging
von: Ying‐Li Wei, et al.
Veröffentlicht: (2025)

Prenatal Diagnosis of Congenital Paraesophageal Hernia With Gastric Volvulus and Postnatal FBN1 Mutation Confirmation
von: Spencer C. Darveau, et al.
Veröffentlicht: (2025)

Prenatal Diagnosis of Arboleda‐Tham Syndrome Associated With KAT6A Variants Presented With Interrupted Inferior Vena Cava and Fetal Growth Restriction
von: Qiu‐Xia Yu, et al.
Veröffentlicht: (2025)

Response to the Correspondence by Jean‐Marie Jouannic et al. to: Prenatal Diagnosis and Postnatal Outcome of Closed Spinal Dysraphism. Prenat Diagn. 2024 Apr;44(4):499–510
von: Ivonne Bedei, et al.
Veröffentlicht: (2024)

High‐Resolution Haplotyping of the PAH Gene Enables Early Gestation Noninvasive Prenatal Diagnosis of Phenylketonuria and Evolution Analysis of Recurrent Pathogenic Variations
von: Jingqi Zhu, et al.
Veröffentlicht: (2024)

High Risk for Rare Autosomal Trisomies Detected by Non‐Invasive Prenatal Testing: Prenatal Diagnosis and Pregnancy Outcomes
von: Zihan Jiang, et al.
Veröffentlicht: (2026)

Optical Genome Mapping for Prenatal Diagnosis in Fetuses With Structural Anomalies
von: Yiyun Xu, et al.
Veröffentlicht: (2025)

Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification
von: Mario Abaji, et al.
Veröffentlicht: (2025)

Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure
von: Christopher Connolly, et al.
Veröffentlicht: (2026)

The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies
von: Karin E. M. Diderich, et al.
Veröffentlicht: (2024)

Prenatal Detection of TGFBR1 Variant Associated With Severe Ventriculomegaly and Loeys–Dietz Syndrome
von: Mia B. Hodges, et al.
Veröffentlicht: (2025)

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review
von: Karen Mei Xian Lim, et al.
Veröffentlicht: (2026)

Fetal Presentation of MYRF‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis
von: Maud Favier, et al.
Veröffentlicht: (2024)

Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature
von: Benjamin Birene, et al.
Veröffentlicht: (2025)

Prenatal Diagnosis of Sotos Syndrome: Integrating Chromosomal Microarray Analysis and Exome Sequencing
von: Xi Yang, et al.
Veröffentlicht: (2025)

Perspectives on Fetal Sex and Prenatal Diagnosis of Differences of Sex Development Among Midwives
von: Madeline Dingle, et al.
Veröffentlicht: (2025)

Congenital Vascular Anomalies: Prenatal Diagnosis, Perinatal Outcome and Postnatal Follow up
von: Stefano Faiola, et al.
Veröffentlicht: (2025)

Approaching Universal Prenatal Detection of Significant Cardiovascular Malformations in Nevada
von: William N. Evans, et al.
Veröffentlicht: (2024)