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European Journal of Medical Genetics
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2.02
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1856
Papers 1928
1 page of 193 pages (1,928 results)
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#1Iris Unterberger (Innsbruck Medical University)H-Index: 24
#2Judith Dobesberger (Innsbruck Medical University)H-Index: 17
Last.Dieter Kotzot (Innsbruck Medical University)H-Index: 23
view all 10 authors...
Abstract Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by childhood-onset drug-resistant epilepsy, behavioral problems and variable cognitive impairment. While most cases occur sporadically, parent-to-child transmission of ring 20 mosaicism has only been reported in a few exceptional families. We identified a further family with mother-to-child transmission of ring 20 mosaicism. Detailed characterization of the ring chromosome showed a complete ring with preserved telo...
#1Karit Reinson (UT: University of Tartu)H-Index: 2
#2Reka Kovacs-Nagy (TUM: Technische Universität München)H-Index: 8
Last.Uwe Ahting (TUM: Technische Universität München)H-Index: 22
view all 15 authors...
Abstract Mitochondrial complex I deficiency is the most frequent mitochondrial disorder presenting in childhood and the mutational spectrum is highly heterogeneous. The NDUFB11 gene is one of the recently identified genes, which is located in the short arm of the X-chromosome. Here we report clinical, biochemical, functional and genetic findings of two male patients with lactic acidosis, hypertrophic cardiomyopathy and isolated complex I deficiency due to de novo hemizygous mutations (c.286C > T...
#1Anna Aghajanyan (Peoples' Friendship University of Russia)H-Index: 1
#2Aleksandra FučićH-Index: 12
Last.Paško KonjevodaH-Index: 13
view all 5 authors...
Abstract Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility with prevalence 1:20 000. Its incidence is probably underestimated due to unknown number of subjects having mild symptoms who may have never been diagnosed through entire life time. Classical EDS is characterized by pathogenic variants of genes encoding type V collagen. The biological effects and health risks of patients with ED...
#1Cecilia Mancini (UNITO: University of Turin)H-Index: 10
#2Andrea ZontaH-Index: 2
Last.Alessandro Brussino (UNITO: University of Turin)H-Index: 16
view all 10 authors...
Abstract Microphthalmia with limb anomalies (MLA, OMIM, 206920) is a rare autosomal-recessive disease caused by biallelic pathogenic variants in the SMOC1 gene. It is characterized by ocular disorders (microphtalmia or anophtalmia) and limb anomalies (oligodactyly, syndactyly, and synostosis of the 4th and 5th metacarpals), variably associated with long bone hypoplasia, horseshoe kidney, venous anomalies, vertebral anomalies, developmental delay, and intellectual disability. Here, we report the ...
#1Rajech SharkiaH-Index: 5
#2Abdelnaser ZalanH-Index: 4
Last.Muhammad Mahajnah (Technion – Israel Institute of Technology)H-Index: 10
view all 5 authors...
Abstract The present study describes two patients with clinical diagnosis of ID, from a consanguineous family in Israel. Whole exome sequencing identified a homozygous missense mutation in the ADAT3 gene. The clinical features of our patients were compared with several cases described in two recently published studies that documented clinical manifestation of this same mutation. Both affected siblings in our study expressed the previously described clinical features such as intellectual disabili...
#1Naz Güleray (Hacettepe University)H-Index: 1
#2Pelin Özlem Simsek Kiper (Hacettepe University)H-Index: 6
Last.Mehmet Alikasifoglu (Hacettepe University)H-Index: 18
view all 5 authors...
Abstract Spondyloocular syndrome is characterized by generalized osteoporosis, multiple fractures and severe ocular findings. The causative XYLT2 mutations have recently been identified with the use of whole exome sequencing. We report on two siblings with spondyloocular syndrome who presented with varying clinical severity. A novel XYLT2 missense mutation was detected in a region evolutionary conserved across the species. This report along with the previous reports demonstrates that variable ex...
#1André MégarbanéH-Index: 41
#2Ghassan Hmaimess (University of Balamand)H-Index: 3
Last.Stephany El-Hayek (Centre for Arab Genomic Studies)H-Index: 1
view all 8 authors...
Abstract Joubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a "molar tooth sign" (MTS), which can be isolated or in conjunction with variable organ involvement. The genetic basis of JS is heterogeneous, with over 35 ciliary genes being implicated in its pathogenesis. However, some of these genes (such as PDE6D ) have been associated to JS only in single families,...
#1Raashda A. Sulaiman (Alfaisal University)H-Index: 3
#2Mohammed Al-Owain (Alfaisal University)H-Index: 23
Abstract The incidence of inherited metabolic disorders (IMD) in Saudi Arabia is one of the highest in the world. Early diagnosis and advances in the treatment of these diseases have led to improved survival of these patients resulting in a rapidly growing number of adults with IMD. This is the first report from a single tertiary care center, on the experience of managing a large cohort of adult patients with a wide range of IMD. We describe the common IMD seen in adult patients in Saudi Arabia,...
#1Mauricio Rocha Dourado (State University of Campinas)H-Index: 4
Last.Ana Terezinha Marques Mesquita (UFVJM)H-Index: 4
view all 8 authors...
Abstract Enamel renal syndrome (ERS) is a rare autosomal recessive disorder not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged from 6 to 25 years-old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicles, gingi...
#1Hiroko Boda (Fujita Health University)H-Index: 3
#2Masafumi Miyata (Fujita Health University)H-Index: 5
Last.Hiroki Kurahashi (Fujita Health University)H-Index: 37
view all 7 authors...
Abstract We report a patient with congenital complex pituitary hormone deficiency (CPHD) with intestinal malrotation and anal atresia. We identified a de novo heterozygous mutation, c.664T > G (p.Cys222Gly), in the FOXA2 gene in this individual. This missense mutation had the potential to affect the DNA binding properties of the FOXA2 protein based on a protein structure prediction. Since a CPHD patient with another missense mutation and one other case with an entire gene deletion have also been...
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