Cargando…

Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

BACKGROUND: Wolf–Hirschhorn syndrome (WHS) (OMIM 194190) is a multiple congenital anomalies/intellectual disability syndrome. It is caused by partial loss of genetic material from the distal portion of the short arm of chromosome. METHODS: We studied the phenotype–genotype correlation. RESULTS: We p...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mekkawy, Mona K., Kamel, Alaa K., Thomas, Manal M., Ashaat, Engy A., Zaki, Maha S., Eid, Ola M., Ismail, Samira, Hammad, Saida A., Megahed, Hisham, ElAwady, Heba, Refaat, Khaled M., Hussien, Shymaa, Helmy, Nivine, Abd Allah, Sally G., Mohamed, Amal M., El Ruby, Mona O.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077161/ https://www.ncbi.nlm.nih.gov/pubmed/33217222 http://dx.doi.org/10.1002/mgg3.1546

Ejemplares similares

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly
por: Mohamed, Amal M., et al.
Publicado: (2021)

Phenotypic Variations in Wolf-Hirschhorn Syndrome
por: Sukarova-Angelovska, E, et al.
Publicado: (2014)

Correlating SFTPC gene variants to interstitial lung disease in Egyptian children
por: Abdel Megeid, Azza K., et al.
Publicado: (2022)

First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease
por: Elaraby, Nesma M., et al.
Publicado: (2023)

Correction: Correlating SFTPC gene variants to interstitial lung disease in Egyptian children
por: Abdel Megeid, Azza K., et al.
Publicado: (2022)

Wolf–Hirschhorn (4p-) syndrome with West syndrome
por: Motoi, Hirotaka, et al.
Publicado: (2016)

Airway Management in a Patient with Wolf-Hirschhorn Syndrome
por: Gamble, John F., et al.
Publicado: (2016)

Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study
por: Pokale, Yamini S., et al.
Publicado: (2012)

miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients
por: Fayez, Alaaeldin G., et al.
Publicado: (2022)

Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager
por: Popescu, D.E., et al.
Publicado: (2023)

Mitochondrial defects potentiate seizure development in Wolf-Hirschhorn syndrome
Publicado: (2014)

Early Postnatal Seizures in a Neonate with Wolf–Hirschhorn Syndrome
por: Go, Hayato, et al.
Publicado: (2016)

A case for cannabidiol in Wolf–Hirschhorn syndrome seizure management
por: Ho, Karen S., et al.
Publicado: (2016)

Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome
por: Simonini, Corinna, et al.
Publicado: (2022)

Growth charts for Wolf-Hirschhorn syndrome (0–4 years of age)
por: Antonius, T., et al.
Publicado: (2007)

Inflammatory Myofibroblastic Bladder Tumor in a Patient with Wolf-Hirschhorn Syndrome
por: Marte, Antonio, et al.
Publicado: (2013)

Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis
por: Limeres, Jacobo, et al.
Publicado: (2020)

Nonossified cervical vertebrae in Wolf-Hirschhorn Syndrome: A case report
por: Hong, You Mi, et al.
Publicado: (2019)

Anesthetic considerations for an adult with Wolf-Hirschhorn syndrome - A case report -
por: Kim, Hye-Jin, et al.
Publicado: (2020)

Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports
por: Sheth, F., et al.
Publicado: (2012)

Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome
por: Corrêa, Thiago, et al.
Publicado: (2018)

Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome
por: Deeb, Asma
Publicado: (2017)

Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers
por: Berrocoso, Sarah, et al.
Publicado: (2020)

Prenatal phenotype of Wolf–Hirschhorn syndrome: A case series and literature review
por: Tang, Feng, et al.
Publicado: (2023)

Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome
por: Ahmed, Mohi, et al.
Publicado: (2015)

Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report
por: Tsukamoto, Masanori, et al.
Publicado: (2017)

Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review
por: Gavril, Eva-Cristiana, et al.
Publicado: (2021)

IGF1R, IGFALS, and IGFBP3 gene copy number variations in a group of non-syndromic Egyptian short children
por: Fadel, Islam M., et al.
Publicado: (2021)

Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity
por: Aslan, Halil, et al.
Publicado: (2003)

Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4
por: Yao, Qi, et al.
Publicado: (2014)

The Many Faces of Xenopus: Xenopus laevis as a Model System to Study Wolf–Hirschhorn Syndrome
por: Lasser, Micaela, et al.
Publicado: (2019)

Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome
por: Zorron, Ricardo, et al.
Publicado: (2017)

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome
por: Ho, Karen S, et al.
Publicado: (2016)

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
por: Malvestiti, Francesca, et al.
Publicado: (2013)

Exploring the developmental mechanisms underlying Wolf-Hirschhorn Syndrome: Evidence for defects in neural crest cell migration
por: Rutherford, Erin L., et al.
Publicado: (2016)

Extremely Low Birthweight Infant with Wolf-Hirschhorn Syndrome: A Dilemma in Determination of the Optimal Timing of Delivery
por: Iijima, Shigeo, et al.
Publicado: (2008)

De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype
por: Jiang, Yanrui, et al.
Publicado: (2019)

Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques
por: Venegas-Vega, Carlos A., et al.
Publicado: (2013)

AB188. Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4
por: Yao, Qi, et al.
Publicado: (2014)

Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome
por: Siew, Jia Xuan, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_4o8gll54ctmttmsn1pn208t74o