Found: 19
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A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3513, doi. 10.1093/brain/awad086
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- Article
Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
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- eLife, 2016, p. 1, doi. 10.7554/eLife.12245
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- Article
A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 343, doi. 10.1002/ajmg.a.62514
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- Article
The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1858, doi. 10.1002/ajmg.a.62163
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- Article
Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2494, doi. 10.1002/ajmg.a.38332
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- Article
RBBP8 Syndrome with Microcephaly, Intellectual Disability, Short Stature and Brachydactyly.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3148, doi. 10.1002/ajmg.a.37299
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- Article
A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 333, doi. 10.1038/ejhg.2013.138
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- Article
A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 261, doi. 10.1038/sj.ejhg.5201935
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- Article
Large-scale recent expansion of European patrilineages shown by population resequencing.
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- Nature Communications, 2015, v. 6, n. 5, p. 7152, doi. 10.1038/ncomms8152
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- Article
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.
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- Clinical Genetics, 2019, v. 96, n. 5, p. 456, doi. 10.1111/cge.13612
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- Article
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1886
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- Article
Response to Kouwenberg et al. 'Recognizable Phenotype With Common Occurrence of Microcephaly, Psychomotor Retardation, But No Spontaneous Bone Fractures in ARCL2B Due to PYCR1 Mutations'.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2333, doi. 10.1002/ajmg.a.34151
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- Article
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 134, doi. 10.1002/ajmg.a.33747
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- Article
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
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- Human Mutation, 2018, v. 39, n. 10, p. 1344, doi. 10.1002/humu.23601
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- Article
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.
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- Modern Rheumatology, 2015, v. 25, n. 2, p. 315, doi. 10.3109/14397595.2013.874757
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- Article
A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing.
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- Turkish Journal of Hematology, 2019, v. 36, n. 1, p. 29, doi. 10.4274/tjh.galenos.2018.2018.0325
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- Article
Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.
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- Neurogenetics, 2012, v. 13, n. 3, p. 189, doi. 10.1007/s10048-012-0326-9
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- Article
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1.
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- Neurogenetics, 2009, v. 10, n. 4, p. 325, doi. 10.1007/s10048-009-0191-3
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- Article
Adult phenotype and further phenotypic variability in SRD5A3-CDG.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 2, doi. 10.1186/1471-2350-15-10
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- Article