Copertina

A Missense Variant in KIF14 Results in Two Gene Isoforms by Affecting Normal Gene Splicing

Fuente: Wiley Open Access

Salvato in:

Dettagli Bibliografici
Autori principali:	Dorin Trigubov, Vered Ofen‐Glassner, Bar Levy, Adi Mory, Igal Wolman, Yuval Yaron, Roee Birnbaum, Alina Kurolap
Natura:	Artículo Open Access
Pubblicazione:	Wiley 2025
Soggetti:	Prenatal Diagnosis
Accesso online:	Acceder al recurso
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!

Documenti analoghi

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

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

Identification of a Mosaic Variant in the SYNCRIP Gene Causing Foetal Periventricular Nodular Heterotopia, Abnormal Sulcation and Infratentorial Anomaly
di: Roee Birnbaum, et al.
Pubblicazione: (2024)

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis
di: Adi Botvinik, et al.
Pubblicazione: (2026)

Novel Missense Variant in the SMARCD1 Gene as the Cause of Coffin–Siris Syndrome 11 in a Fetus With Ambiguous Genitalia and Multiple Dysmorphic Features
di: Rachel A. Veazey, et al.
Pubblicazione: (2024)

Fetal Macrocephaly: Prenatal Findings and Follow‐Up in Cases With High Risk for Abnormal Outcome
di: Hadas Miremberg, et al.
Pubblicazione: (2025)

PIGO Gene Variants: New Insights Into Prenatal Diagnosis
di: A. Zambiasi, et al.
Pubblicazione: (2025)

Variation in the Genetic Workup of Polyhydramnios: An International and Inter‐Specialty Survey
di: Roni Zemet, et al.
Pubblicazione: (2026)

Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene
di: Cordelia R. Muir, et al.
Pubblicazione: (2025)

A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum
di: Karina Krajden Haratz, et al.
Pubblicazione: (2024)

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

Prenatal Phenotype of a Heterozygous Missense CHD4 Variant in a Fetus With Widened Cerebral Subarachnoid Space, Increased Head Circumference and Polyhydramnios
di: Fan Zhou, et al.
Pubblicazione: (2025)

Opportunities and Challenges of Fetal Gene Therapy
di: Médéric Jeanne, et al.
Pubblicazione: (2025)

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2
di: Cong Zhou, et al.
Pubblicazione: (2025)

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

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

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

A Novel PPP1R12A Splice‐Site Variant Identified in a Female Fetus With Perineal Hamartoma
di: Shiyu Chen, et al.
Pubblicazione: (2026)

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists
di: Victoria Ardiles‐Ruesjas, et al.
Pubblicazione: (2026)

Prenatal Phenotype of a Heterozygous de Novo Missense COL4A1 Variant in a Fetus With Pleural Effusion, Ascites, Increased Placental Thickness, Decreased Amniotic Fluid, and Cerebral Structural Malformations
di: Jieni Jiang, et al.
Pubblicazione: (2026)

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

Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic Heterogeneity
di: Thibault Coste, et al.
Pubblicazione: (2025)

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

A Whole MED12 Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome
di: Liping Wu, et al.
Pubblicazione: (2024)

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

Potential of Nanopore Long Read Sequencing for Determining CTG Repeat Lengths in the DMPK1 Gene During Prenatal or Preimplantation Genetic Testing
di: Yui Shichiri, et al.
Pubblicazione: (2025)

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

Combined Cell‐Free DNA Screening for Aneuploidies and Selected Single‐Gene Disorders for Pregnancies With Sonographically Detected Fetal Anomalies: Detection Rate and Residual Risk
di: Thi Lan Anh Luong, et al.
Pubblicazione: (2024)

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

Phenotypic Features of Fourteen Fetal Cases With a PTEN Variant
di: Qu‐Xia Yu, et al.
Pubblicazione: (2025)

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

KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis
di: Kimia Ghannad‐Zadeh, et al.
Pubblicazione: (2025)

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

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

De Novo RRAS2 Pathogenic Variant in a Fetus With Bilateral Radial Ray and Multisystem Anomalies
di: Nicole R. Legro, et al.
Pubblicazione: (2026)

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

Fetal Phenotype and Diagnosis of Treacher Collins Syndrome Due to a Novel POLR1D Variant
di: Xihan Wang, et al.
Pubblicazione: (2025)

A de novo WBP11 Pathogenic Variant in a Fetus With Cystic Brain Malformation and Growth Restriction
di: Gulvir Gill, et al.
Pubblicazione: (2025)

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

Early‐Onset Macrosomia, Advanced Brain Maturation, and Gonadoblastoid Testicular Dysplasia in a Fetus With a PTEN Variant
di: Danielle C. Lynch, et al.
Pubblicazione: (2025)