Search
Search Results
-
Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome
BackgroundThe pathogenic variants responsible for Birt-Hogg-Dubé syndrome (BHDS) in folliculin ( FLCN ) gene mostly consist of point mutations....
-
Metabolic effects of the schizophrenia-associated 3q29 deletion
The 1.6 Mb 3q29 deletion is associated with developmental and psychiatric phenotypes, including a 40-fold increased risk for schizophrenia. Reduced...
-
Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom
BackgroundLim** and/or refusal to walk is a common complaint in the setting of the pediatric department, with a widely diverse differential...
-
Yield of the PMP22 deletion analysis in patients with compression neuropathies
IntroductionHereditary neuropathy with liability to pressure palsies (HNPP) is a rare neuromuscular disorder, mostly caused by PMP22 deletion.
... -
Retinoic Acid-Induced 1 gene variants associated with Smith–Magenis syndrome circadian phenotypes enriched in autism spectrum disorder: whole-genome sequencing study
BackgroundThis study aimed to characterize the frequency of RAI1 genetic aberrations associated with Smith–Magenis syndrome (SMS), in a large cohort...
-
Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability
BackgroundDevelopmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age...
-
Chromosome 17p13 deletion is associated with an aggressive tumor phenotype in clear cell renal cell carcinoma
BackgroundDeletions of 17p13 recurrently occur in renal cell carcinoma (RCC) but their prognostic role seems to be uncertain.
Methods ...
-
Exploring racial disparities in bladder urothelial cancer: insights into survival and genetic variations
BackgroundBladder urothelial cancer is the most common malignancy of the urinary system and the 10th most common cancer worldwide with incidence...
-
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort
The terms developmental epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-and-wave...
-
Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder mainly due to a deletion of chromosome 17p11.2...
-
Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders
Chromosomal microarray is recommended as the first line of investigation in neurodevelopmental disorders (NDDs). However, advances in next-generation...
-
Deciphering Intellectual Disability
Intellectual disability (ID) is a common cause of referral to the pediatricians, geneticists, and pediatric neurologists. A thorough clinical...
-
Unusual split green-orange signals in USP6 fluorescence in situ hybridization in a malignant peripheral nerve sheath tumor with a novel NF1-SCIMP fusion: a potential diagnostic pitfall
Deletion of the neurofibromatosis 1 ( NF1 ) gene is common, but NF1 rearrangement or fusion has rarely been reported in peripheral nerve sheath tumors....
-
Chromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review
BackgroundFever of unknown origin (FUO) has been difficult to diagnose in pediatric clinical practice. With the gradual change in the disease...
-
A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis
AbstractSyndromic obesity refers to obesity occurring with additional clinical findings, such as intellectual disability/developmental delay,...
-
RAI1 alternate probe identifies additional gastroesophageal adenocarcinoma cases as amplified following equivocal HER2 fluorescence in situ hybridization testing: experience from a national reference laboratory
The College of American Pathologists/American Society of Clinical Oncology recommends HER2 testing prior to initiation of targeted therapy for...
-
Genetic insight into Birt–Hogg–Dubé syndrome in Indian patients reveals novel mutations at FLCN
BackgroundBirt-Hogg-Dubé syndrome (BHDS) is a rare monogenic condition mostly associated with germline mutations at FLCN . It is characterized by...
-
Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone
PurposeThis study aims to evaluate the prevalence of submicroscopic chromosomal abnormalities found on single nucleotide polymorphism array (SNP...
-
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia
BackgroundPeriventricular nodular heterotopia (PVNH) is a congenital brain malformation often associated with seizures. We aimed to clarify the...
-
AAV-mediated editing of PMP22 rescues Charcot-Marie-Tooth disease type 1A features in patient-derived iPS Schwann cells
BackgroundCharcot-Marie-Tooth disease type 1A (CMT1A) is one of the most common hereditary peripheral neuropathies caused by duplication of 1.5 Mb...
