Journal of Medical Genetics
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#1Justine GéraudH-Index: 1
#2Klaus Dieterich (University of Toulouse)H-Index: 15
Last. Claude CancesH-Index: 19
view all 22 authors...
Background Congenital nemaline myopathies are rare pathologies characterised by muscle weakness and rod-shaped inclusions in the muscle fibres. Methods Using next-generation sequencing, we identified three patients with pathogenic variants in the Troponin T type 1 (TNNT1) gene, coding for the troponin T (TNT) skeletal muscle isoform. Results The clinical phenotype was similar in all patients, associating hypotonia, orthopaedic deformities and progressive chronic respiratory failure, leading to e...
2 CitationsSource
#1Mostafa El HajjamH-Index: 11
#2Ahmed MekkiH-Index: 3
Last. Thierry ChinetH-Index: 26
view all 9 authors...
Background We report two cases of RASA1-related capillary malformation-arteriovenous malformation (CM-AVM1) syndrome mimicking hereditary haemorrhagic telangiectasia (HHT). Methods and results A 28-year-old man, previously embolised for cerebral arteriovenous malformations (AVMs), presented with epistaxis and typical nasal telangiectasias of HHT. CT scan revealed a large portocaval shunt. The second patient was a 9-year-old girl presenting with cyanosis and several mucocutaneous telangiectasias,...
2 CitationsSource
#1Zerin Hyder (University of Manchester)H-Index: 1
#1Zerin Hyder (University of Manchester)H-Index: 1
Last. Emma R Woodward (University of Manchester)H-Index: 6
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Background Nephroblastomatosis is a recognised precursor for the development of Wilms tumour (WT), the most common childhood renal tumour. While the majority of WT is sporadic in origin, germline intragenic mutations of predisposition genes such as WT1, REST and TRIM28 have been described in apparently isolated (non-familial) WT. Despite constitutional CNVs being a well-studied cause of developmental disorders, their role in cancer predisposition is less well defined, so that the interpretation ...
1 CitationsSource
#1Mareike Dahmer-Heath (Boston Children's Hospital)H-Index: 1
#2Valentin SchrieverH-Index: 1
Last. Jens König (Boston Children's Hospital)H-Index: 16
view all 13 authors...
Background Hereditary cystic kidney diseases such as nephronophthisis, polycystic kidney disease and Bardet-Biedl syndrome (BBS) are caused by a dysfunction of primary cilia. Cilia are involved in a variety of cellular functions and perceptions, with one of them being the sense of smell. Hyposmia is a typical feature found in patients with BBS. However, reports of olfactory dysfunction in other cystic kidney diseases are sparse. Here we provide a systematic survey on olfaction in a large cohort ...
3 CitationsSource
#1Noraldin Al-Deri (Concordia University)H-Index: 2
#2Volkan Okur (CUMC: Columbia University Medical Center)H-Index: 4
Last. Mythily Ganapathi (CUMC: Columbia University Medical Center)H-Index: 4
view all 10 authors...
Background Next-generation sequencing has facilitated the diagnosis of neurodevelopmental disorders with variable and non-specific clinical findings. Recently, a homozygous missense p.(Asp37Tyr) variant in TRAPPC2L, a core subunit of TRAPP complexes which function as tethering factors during membrane trafficking, was reported in two unrelated individuals with neurodevelopmental delay, post-infectious encephalopathy-associated developmental arrest, tetraplegia and accompanying rhabdomyolysis. Met...
2 CitationsSource
#1Jonathan Mendoza (UWA: University of Western Australia)H-Index: 1
#2Jenny DownsH-Index: 26
Last. Helen Leonard (UWA: University of Western Australia)H-Index: 67
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Background Rett syndrome is a genetically caused neurodevelopmental disorder associated with functional deficits and comorbidities. This study investigated relationships between genotype, functional abilities and comorbidities and quality of life in Rett syndrome. Methods The International Rett Syndrome Database, InterRett, was used as a sampling frame for this observational study. Information was collected to describe functional abilities (walking and feeding), health (Sleep Disorder Scale for ...
1 CitationsSource
#2Nicoleta AndreescuH-Index: 7
Last. Maria PuiuH-Index: 14
view all 9 authors...
Pathogenic variants in BRCA1 gene in heterozygous state are known to be associated with breast-ovarian cancer susceptibility; however, biallelic variants cause a phenotype recognised as Fanconi anaemia complementation group S. Due to its rarity, medical management and preventive screening measures are insufficiently understood. Here, we present nine individuals (one new and eight previously presented) with biallelic variants in BRCA1 gene, to delineate clinical features in comparison with other ...
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#1Pingping Song (Southern Medical University)H-Index: 4
#2Yuqing Guan (Southern Medical University)H-Index: 2
Last. Yafang Hu (Southern Medical University)H-Index: 12
view all 17 authors...
Background Deafness-dystonia-optic neuronopathy (DDON) syndrome is a progressive X-linked recessive disorder characterised by deafness, dystonia, ataxia and reduced visual acuity. The causative gene deafness/dystonia protein 1 (DDP1)/translocase of the inner membrane 8A (TIMM8A) encodes a mitochondrial intermembrane space chaperon. The molecular mechanism of DDON remains unclear, and detailed information on animal models has not been reported yet. Methods and results We characterized a family wi...
2 CitationsSource
#1G. Ravenscroft (UWA: University of Western Australia)H-Index: 3
#2Joshua S. Clayton (UWA: University of Western Australia)H-Index: 5
Last. Mark R. DavisH-Index: 21
view all 23 authors...
Background Fetal akinesia and arthrogryposis are clinically and genetically heterogeneous and have traditionally been refractive to genetic diagnosis. The widespread availability of affordable genome-wide sequencing has facilitated accurate genetic diagnosis and gene discovery in these conditions. Methods We performed next generation sequencing (NGS) in 190 probands with a diagnosis of arthrogryposis multiplex congenita, distal arthrogryposis, fetal akinesia deformation sequence or multiple pter...
7 CitationsSource
#1Zixin Qin (UM: University of Macau)H-Index: 3
Last. San Ming Wang (UM: University of Macau)H-Index: 28
view all 10 authors...
Background Pathogenic mutation in BRCA genes causes high cancer risk. Identifying the mutation carriers plays key roles in preventing BRCA mutation-related cancer. Population screening has demonstrated its power for comprehensive identification of the mutation carriers. However, it is only recommended for the Ashkenazi Jewish population with high prevalence of three founder mutations, but not for non-Ashkenazi Jewish populations as the cost-effectiveness could be too low due to their lower mutat...
2 CitationsSource
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