Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation
Fuente:
Wiley Open Access
Salvato in:
| Autori principali: | Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann |
|---|---|
| Natura: | Artículo Open Access |
| Pubblicazione: |
Wiley
2026
|
| Soggetti: | |
| Accesso online: | |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne!!
|
Documenti analoghi
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study
di: Luise Kessler, et al.
Pubblicazione: (2024)
di: Luise Kessler, et al.
Pubblicazione: (2024)
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling
di: Marie Massier, et al.
Pubblicazione: (2025)
di: Marie Massier, et al.
Pubblicazione: (2025)
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing
di: Asmaa K. Amin, et al.
Pubblicazione: (2025)
di: Asmaa K. Amin, et al.
Pubblicazione: (2025)
Genotype–Phenotype Correlations in Chinese Pediatric Patients With Single Large‐Scale Mitochondrial DNA Deletion Disorders
di: Jun Wang, et al.
Pubblicazione: (2025)
di: Jun Wang, et al.
Pubblicazione: (2025)
Bi‐Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype–Phenotype Correlations From 61 Patients
di: Pegah Beheshti, et al.
Pubblicazione: (2025)
di: Pegah Beheshti, et al.
Pubblicazione: (2025)
Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease
di: Pelin Ercoskun, et al.
Pubblicazione: (2024)
di: Pelin Ercoskun, et al.
Pubblicazione: (2024)
Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome
di: Zoë J. Frazier, et al.
Pubblicazione: (2025)
di: Zoë J. Frazier, et al.
Pubblicazione: (2025)
French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants
di: Céline Pebrel‐Richard, et al.
Pubblicazione: (2025)
di: Céline Pebrel‐Richard, et al.
Pubblicazione: (2025)
Expanding Spectrum of FIG4 ‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations
di: Pankaj Prasun, et al.
Pubblicazione: (2026)
di: Pankaj Prasun, et al.
Pubblicazione: (2026)
Genotype–Phenotype Correlations in SYNGAP1 ‐Related Mental Retardation Type 5
di: Liying Hong, et al.
Pubblicazione: (2024)
di: Liying Hong, et al.
Pubblicazione: (2024)
High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics
di: Rivka Birnbaum, et al.
Pubblicazione: (2025)
di: Rivka Birnbaum, et al.
Pubblicazione: (2025)
Discovery of a Pathogenic NME5 Variant Underlying Acephalic Spermatozoa Syndrome: Unraveling a Novel Genotype–Phenotype Association in Male Infertility
di: Yunchuan Tian, et al.
Pubblicazione: (2025)
di: Yunchuan Tian, et al.
Pubblicazione: (2025)
LONP1 Variants Are Associated With Clinically Diverse Phenotypes
di: Randee E. Young, et al.
Pubblicazione: (2025)
di: Randee E. Young, et al.
Pubblicazione: (2025)
Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome
di: Eva C. van der Leest, et al.
Pubblicazione: (2025)
di: Eva C. van der Leest, et al.
Pubblicazione: (2025)
Genotype–Phenotype Correlation in Children With Cystic Fibrosis From India: A Multicentric Study
di: Kana Ram Jat, et al.
Pubblicazione: (2025)
di: Kana Ram Jat, et al.
Pubblicazione: (2025)
The Phenotypic and Genotypic Spectrum of BRPF1‐Related Disorder: 29 New Patients and Literature Review
di: Cindy Colson, et al.
Pubblicazione: (2024)
di: Cindy Colson, et al.
Pubblicazione: (2024)
Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants
di: Evi Andriessen, et al.
Pubblicazione: (2026)
di: Evi Andriessen, et al.
Pubblicazione: (2026)
Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry
di: Nora C. Callahan, et al.
Pubblicazione: (2025)
di: Nora C. Callahan, et al.
Pubblicazione: (2025)
Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism
di: Fernando Zazueta Leon‐Quintero, et al.
Pubblicazione: (2024)
di: Fernando Zazueta Leon‐Quintero, et al.
Pubblicazione: (2024)
Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases
di: Zeynep Esener, et al.
Pubblicazione: (2025)
di: Zeynep Esener, et al.
Pubblicazione: (2025)
Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p. Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome)
di: Carolina I. Galaz‐Montoya, et al.
Pubblicazione: (2026)
di: Carolina I. Galaz‐Montoya, et al.
Pubblicazione: (2026)
Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4 ‐Related Dysplasia
di: Lina Dong, et al.
Pubblicazione: (2025)
di: Lina Dong, et al.
Pubblicazione: (2025)
ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes
di: Yuri A. Zarate, et al.
Pubblicazione: (2025)
di: Yuri A. Zarate, et al.
Pubblicazione: (2025)
A Novel NUP85 Variant Expanding the Phenotypic Spectrum of NUP85‐Associated Steroid‐Resistant Nephrotic Syndrome
di: Eda Didem Kurt‐Şükür, et al.
Pubblicazione: (2025)
di: Eda Didem Kurt‐Şükür, et al.
Pubblicazione: (2025)
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity
di: Simon Boussion, et al.
Pubblicazione: (2024)
di: Simon Boussion, et al.
Pubblicazione: (2024)
Detection of the Heterozygous Recurrent MAX p.( Arg60Gln ) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome
di: Iftekhar A. Showpnil, et al.
Pubblicazione: (2025)
di: Iftekhar A. Showpnil, et al.
Pubblicazione: (2025)
Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects
di: Naif A. M. Almontashiri, et al.
Pubblicazione: (2024)
di: Naif A. M. Almontashiri, et al.
Pubblicazione: (2024)
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B ‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series
di: Sebastian Burkart, et al.
Pubblicazione: (2025)
di: Sebastian Burkart, et al.
Pubblicazione: (2025)
Biallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype
di: Fakhriya Al‐Azri, et al.
Pubblicazione: (2026)
di: Fakhriya Al‐Azri, et al.
Pubblicazione: (2026)
Classic Prader‐Willi Syndrome Phenotype Caused by an Atypical Deletion in the 15q11 Region Not Involving the SNORD Genes
di: Jazmín Belén Martínez, et al.
Pubblicazione: (2025)
di: Jazmín Belén Martínez, et al.
Pubblicazione: (2025)
Clinical Analysis of SYNGAP1 Variant‐Related Neurodevelopmental Disorders in Chinese Children
di: Jia Zhang, et al.
Pubblicazione: (2026)
di: Jia Zhang, et al.
Pubblicazione: (2026)
Novel Variants in MDC1 are Associated With Severe Oligoasthenoteratozoospermia
di: Xu Liu, et al.
Pubblicazione: (2025)
di: Xu Liu, et al.
Pubblicazione: (2025)
MINPP1 ‐Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation
di: Sherif F. Abdel‐Ghafar, et al.
Pubblicazione: (2025)
di: Sherif F. Abdel‐Ghafar, et al.
Pubblicazione: (2025)
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder
di: Periyasamy Radhakrishnan, et al.
Pubblicazione: (2024)
di: Periyasamy Radhakrishnan, et al.
Pubblicazione: (2024)
Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome
di: Valentina Lodato, et al.
Pubblicazione: (2025)
di: Valentina Lodato, et al.
Pubblicazione: (2025)
Functional Validation and Phenotypic Spectrum of Splice‐Site Variants in CHD7 , FGFR1 , and ANOS1 in Congenital Hypogonadotropic Hypogonadism
di: Yuting Li, et al.
Pubblicazione: (2025)
di: Yuting Li, et al.
Pubblicazione: (2025)
Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest
di: Changlong Zhang, et al.
Pubblicazione: (2025)
di: Changlong Zhang, et al.
Pubblicazione: (2025)
Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations
di: Stella Diogo‐Cavassana, et al.
Pubblicazione: (2026)
di: Stella Diogo‐Cavassana, et al.
Pubblicazione: (2026)
Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?
di: Omar Zgheib, et al.
Pubblicazione: (2026)
di: Omar Zgheib, et al.
Pubblicazione: (2026)
Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes
di: Zi‐Xi Zhao, et al.
Pubblicazione: (2025)
di: Zi‐Xi Zhao, et al.
Pubblicazione: (2025)
Documenti analoghi
-
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study
di: Luise Kessler, et al.
Pubblicazione: (2024) -
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling
di: Marie Massier, et al.
Pubblicazione: (2025) -
Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing
di: Asmaa K. Amin, et al.
Pubblicazione: (2025) -
Genotype–Phenotype Correlations in Chinese Pediatric Patients With Single Large‐Scale Mitochondrial DNA Deletion Disorders
di: Jun Wang, et al.
Pubblicazione: (2025) -
Bi‐Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype–Phenotype Correlations From 61 Patients
di: Pegah Beheshti, et al.
Pubblicazione: (2025)