Results 71 to 80 of about 2,902,010 (219)

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease [PDF]

, 2019
We investigated the prevalence of reported deep-intronic variants in a French cohort of 70 patients with Stargardt disease harboring a monoallelic pathogenic variant on the exonic regions of ABCA4. Direct Sanger sequencing of selected intronic regions of
Condroyer, C, Dhaenens, C-M, Audo, I, Mohand-Saïd, S, Antonio, A, Nassisi, M, Andrieu, C, Wohlschlegel, J, Sahel, J-A, Zeitz, C, Varin, J, Méjécase, C   +11 more
core   +3 more sources

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

CDHR1 intronic variant.

, 2016
Snapshot of Alamut visual showing an intronic variant (c.439-17G>A) in patient 26007 (green rectangle). The bam alignment file clearly shows a heterozygous variant 17bp upstream from exon 6.
Amit Tiwari (436122), John Neidhardt (49598), Peter Nürnberg (11534), Holger Thiele (455371), Wolfgang Berger (49619), Esther Glaus (49599), Johannes Lemke (3155529), Janine Altmueller (586331), Johannes Fleischhauer (49613)   +8 more
core   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases

Molecular Genetics and Metabolism Reports
We describe a diagnostic workflow integrating deep intronic and RNA sequencing to resolve genetically unsolved Pompe cases. A five-year-old girl with hypertrophic cardiomyopathy, muscle weakness, recurrent respiratory tract infections, elevated CK levels,
Huseyin Onay, Deniz Kor, Fatma Derya Bulut, Ezgi Irmak Burgac, Bahadir Onay, Irem Kaplan, Halise Neslihan Onenli Mungan   +6 more
doaj   +1 more source

Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patients

, 2023
International audienceBackground: The disease-causative variant remains unidentified in approximately 0.5% to 2% of hemophilia B patients using conventional genetic investigations, and F9 deep intronic variations could be responsible for these phenotypes.
Dericquebourg, Amy, Chatron, Nicolas, Brigitte Tardy, Mathilde Fretigny, Nicolas Chatron, Vinciguerra, Christine, Tardy, Brigitte, Yohann Jourdy, Christophe Zawadzki, Christine Vinciguerra, Chambost, Hervé, Amy Dericquebourg, Fretigny, Mathilde, Hervé Chambost, Zawadzki, Christophe, Jourdy, Yohann   +15 more
core   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing

BMC Medical Genomics
Background/objectives Hearing loss (HL) is one of the most common congenital disorders, affecting 1-2 in 1,000 newborns. Modern genetic diagnostics using large gene panels and/or whole exome analysis (WES) can identify disease-causing mutations in 25-50 %
Daniel Bengl, Asuman Koparir, Wahyu Eka Prastyo, Christian Remmele, Marcus Dittrich, Sophie Flandin, Waafa Shehata-Dieler, Clemens Grimm, Thomas Haaf, Michaela A. H. Hofrichter   +9 more
doaj   +1 more source