PuSH - Publication Server of Helmholtz Zentrum München

28 Records found.
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1.
Mahler, E.A.* et al.: Exome Sequencing in Children Undiagnosed Developmental Delay and Neurological Illness. Dtsch. Arztebl. Int. 116, 197-204 (2019)
2.
Verheije, R.* et al.: Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. Eur. J. Hum. Genet. 27, 278-290 (2019)
3.
Gauthier, J.* et al.: Recessive mutations in > VPS13D cause childhood onset movement disorders. Ann. Neurol. 83, 1089-1095 (2018)
4.
Lessel, D.* et al.: BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain 141, 2299-2311 (2018)
5.
El-Hattab, A.W.* et al.: Molecular and clinical spectra of FBXL4 deficiency. Hum. Mutat. 38, 1649-1659 (2017)
6.
Glasgow, R.I.C.* et al.: Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics 18, 1-9 (2017)
7.
Hempel, M.* et al.: Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. Hum. Genet. 136, 339-346 (2017)
8.
Hempel, M.* et al.: LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study. Mitochondrion 37, 55-61 (2017)
9.
Johannsen, J.* ; Hempel, M.* ; Diehl, T.* ; Haack, T.B. & Denecke, J.*: Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins. Pediatr. Neonatol. 58, 458-459 (2017)
10.
Kloth, K.* et al.: First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features. Eur. J. Med. Genet. 60, 494-498 (2017)
11.
Martin, S.* et al.: De novo variants in GRIA4 lead to intellectual disability with or without seizures and gait abnormalities. Am. J. Hum. Genet. 101, 1013-1020 (2017)
12.
Oud, M.M.* et al.: Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. Am. J. Hum. Genet. 100, 281-296 (2017)
13.
Said, E.* et al.: Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. Am. J. Med. Genet. A 173, 3098-3103 (2017)
14.
Kim, J.H.* et al.: De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome. Am. J. Hum. Genet. 99, 711-719 (2016)
15.
Kremer, L.S. et al.: Biallelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy. Am. J. Hum. Genet. 98, 358-362 (2016)
16.
Hempel, M.* et al.: De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment. Am. J. Hum. Genet. 97, 493-500 (2015)
17.
Salem, N.J.M.* et al.: Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. Am. J. Med. Genet. A 161, 1421-1424 (2013)
18.
Schulte, E.C. et al.: Mitochondrial membrane protein associated neurodegeneration: A novel variant of neurodegeneration with brain iron accumulation. Mov. Disord. 28, 224-227 (2013)
19.
Haack, T.B. et al.: Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J. Inherit. Metab. Dis. 35, 943-948 (2012)
20.
Klopocki, E.* et al.: Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J. Med. Genet. 49, 119-125 (2012)