A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
Background Orodental diseases include several clinically and genetically heterogeneous
disorders that can present in isolation or as part of a genetic syndrome. Due to the vast …
disorders that can present in isolation or as part of a genetic syndrome. Due to the vast …
[HTML][HTML] Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
G Jaureguiberry, D la Dure-Molla, D Parry… - Nephron …, 2013 - karger.com
Background/Aims: Calcium homeostasis requires regulated cellular and interstitial systems
interacting to modulate the activity and movement of this ion. Disruption of these systems in …
interacting to modulate the activity and movement of this ion. Disruption of these systems in …
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
X Jia, S Zhang, S Tan, B Du, M He, H Qin, J Chen… - Science …, 2022 - science.org
Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We
report a new neurodevelopmental disorder (NDD) with common features of language …
report a new neurodevelopmental disorder (NDD) with common features of language …
[HTML][HTML] Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine
A Heddar, C Ogur, S Da Costa, I Braham… - …, 2022 - thelancet.com
Summary Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-
3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are …
3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are …
Mutational spectrum in holoprosencephaly shows that FGF is a new major signaling pathway
C Dubourg, W Carré, H Hamdi‐Rozé… - Human …, 2016 - Wiley Online Library
Holoprosencephaly (HPE) is the most common congenital cerebral malformation in humans,
characterized by impaired forebrain cleavage and midline facial anomalies. It presents a …
characterized by impaired forebrain cleavage and midline facial anomalies. It presents a …
Functional classification of ATM variants in ataxia‐telangiectasia patients
A Fiévet, D Bellanger, G Rieunier… - Human …, 2019 - Wiley Online Library
Abstract Ataxia‐telangiectasia (A‐T) is a recessive disorder caused by biallelic pathogenic
variants of ataxia‐telangiectasia mutated (ATM). This disease is characterized by …
variants of ataxia‐telangiectasia mutated (ATM). This disease is characterized by …
ARF1-related disorder: phenotypic and molecular spectrum
JM de Sainte Agathe, B Pode-Shakked… - Journal of Medical …, 2023 - jmg.bmj.com
Purpose ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in
only five individuals and systematic clinical characterisation was not available. The aim of …
only five individuals and systematic clinical characterisation was not available. The aim of …
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
AL Bruel, S Bigoni, J Kennedy, M Whiteford… - Journal of medical …, 2017 - jmg.bmj.com
Background Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a
recognisable craniofacial appearance and a typical 'BOS'posture. BOS is caused by …
recognisable craniofacial appearance and a typical 'BOS'posture. BOS is caused by …
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group
E Masson, WB Zou, N Pu, V Rebours, E Génin, H Wu… - Pancreatology, 2023 - Elsevier
Background PRSS1 was the first reported chronic pancreatitis (CP) gene. The existence of
both gain-of-function (GoF) and gain-of-proteotoxicity (GoP) pathological PRSS1 variants …
both gain-of-function (GoF) and gain-of-proteotoxicity (GoP) pathological PRSS1 variants …
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients
D Bessis, AC Bursztejn, F Morice‐Picard… - Journal of the …, 2024 - Wiley Online Library
Background Data on dermatological manifestations of Costello syndrome (CS) remain
heterogeneous and lack in validated description. Objectives To describe the dermatological …
heterogeneous and lack in validated description. Objectives To describe the dermatological …