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Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 4, p. 1, doi. 10.1101/mcs.a006092
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- Publication type:
- Article
Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.
- Published in:
- Human Genetics, 2004, v. 114, n. 3, p. 298, doi. 10.1007/s00439-003-1063-9
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- Publication type:
- Article
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
- Published in:
- Human Genetics, 2003, v. 112, n. 5/6, p. 563, doi. 10.1007/s00439-002-0884-2
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- Publication type:
- Article
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 186, doi. 10.1007/s00439-002-0861-9
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- Publication type:
- Article
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 366, doi. 10.1007/s00439-002-0689-3
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- Publication type:
- Article
Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease.
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- Human Genetics, 2001, v. 109, n. 6, p. 653, doi. 10.1007/s00439-001-0644-8
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- Publication type:
- Article
Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 511, doi. 10.1007/s004390100522
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- Publication type:
- Article
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.
- Published in:
- Human Genetics, 2000, v. 107, n. 3, p. 276, doi. 10.1007/s004390000350
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- Publication type:
- Article
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
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- Human Genetics, 2000, v. 106, n. 6, p. 577, doi. 10.1007/s004390000285
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- Publication type:
- Article
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
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- Human Genetics, 2000, v. 106, n. 2, p. 236, doi. 10.1007/s004390051033
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- Article
Authors' reply re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.
- Published in:
- 2019
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- Publication type:
- letter
Early Grade Repetition and Inattention Associated With Neurofibromatosis Type 1.
- Published in:
- Journal of Attention Disorders, 2007, v. 11, n. 2, p. 101, doi. 10.1177/1087054707299398
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- Publication type:
- Article
Author Correction: 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.
- Published in:
- Translational Psychiatry, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41398-019-0435-4
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- Publication type:
- Article
22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.
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- Translational Psychiatry, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41398-018-0212-9
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- Publication type:
- Article
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
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- Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0284-2
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- Publication type:
- Article
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
- Published in:
- 2018
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- Publication type:
- journal article
Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
- Published in:
- Neurogenetics, 2017, v. 18, n. 1, p. 23, doi. 10.1007/s10048-016-0498-9
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- Publication type:
- Article
Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.
- Published in:
- 2016
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- Publication type:
- Letter
Refining the phenotype associated with CASC5 mutation.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 71, doi. 10.1007/s10048-015-0468-7
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- Publication type:
- Article
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
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- Human Reproduction, 2023, v. 38, n. 5, p. 992, doi. 10.1093/humrep/dead052
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- Publication type:
- Article
FGFR3 mutation causes abnormal membranous ossification in achondroplasia.
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- Human Molecular Genetics, 2014, v. 23, n. 11, p. 2914, doi. 10.1093/hmg/ddu004
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- Publication type:
- Article
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.
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- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1867, doi. 10.1093/hmg/ddt040
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- Publication type:
- Article
An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth.
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- Human Molecular Genetics, 2012, v. 21, n. 11, p. 2503, doi. 10.1093/hmg/dds065
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- Publication type:
- Article
A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model.
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- Human Molecular Genetics, 2012, v. 21, n. 4, p. 841, doi. 10.1093/hmg/ddr514
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- Publication type:
- Article
Human neural crest cells display molecular and phenotypic hallmarks of stem cells.
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- Human Molecular Genetics, 2008, v. 17, n. 21, p. 3411, doi. 10.1093/hmg/ddn235
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- Publication type:
- Article
TAB2, TRAF6 and TAK1 are involved in NF-κB activation induced by the TNF-receptor, Edar and its adaptator Edaradd.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3751, doi. 10.1093/hmg/ddi405
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- Publication type:
- Article
Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3697, doi. 10.1093/hmg/ddi401
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- Publication type:
- Article
Polyalanine expansions in human.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 2, p. r235, doi. 10.1093/hmg/ddh251
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- Publication type:
- Article
Polyalanine expansions in human.
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- Human Molecular Genetics, 2004, v. 13, n. suppl_2, p. R235, doi. 10.1093/hmg/ddh251
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- Publication type:
- Article
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 23, p. 3173, doi. 10.1093/hmg/ddg339
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- Publication type:
- Article
Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?
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- Journal of Autism & Developmental Disorders, 2018, v. 48, n. 8, p. 2886, doi. 10.1007/s10803-018-3552-7
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- Publication type:
- Article
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
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- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 880, doi. 10.1038/ejhg.2014.192
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- Publication type:
- Article
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 621, doi. 10.1038/ejhg.2014.156
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- Publication type:
- Article
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 49, doi. 10.1038/ejhg.2014.60
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- Publication type:
- Article
Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.
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- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 711, doi. 10.1038/ejhg.2013.164
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- Publication type:
- Article
Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. e59, doi. 10.1093/brain/awad054
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- Publication type:
- Article
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.
- Published in:
- 2022
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- Publication type:
- journal article
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
- Published in:
- 2019
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- Publication type:
- letter
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
- Published in:
- 2018
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- Publication type:
- journal article
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
- Published in:
- 2021
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- Publication type:
- journal article
Quantitative Susceptibility Mapping in Woodhouse-Sakati Syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Deferiprone in Friedreich ataxia: A 6-Month randomized controlled trial.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 4, p. 509, doi. 10.1002/ana.24248
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- Publication type:
- Article
PHOX2B gene mutation in a patient with late‐onset central hypoventilation.
- Published in:
- Pediatric Pulmonology, 2004, v. 38, n. 4, p. 349, doi. 10.1002/ppul.20074
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- Publication type:
- Article
Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus.
- Published in:
- 2019
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- Publication type:
- journal article
Pregnancy in MNGIE: a clinical and metabolic honeymoon.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2484, doi. 10.1002/acn3.51202
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- Publication type:
- Article
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 12, p. N.PAG, doi. 10.15252/emmm.201809569
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- Publication type:
- Article
Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus.
- Published in:
- Journal of Nucleic Acids, 2013, p. 1, doi. 10.1155/2013/567435
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- Publication type:
- Article
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 195, doi. 10.1038/ejhg.2012.140
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- Publication type:
- Article
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 917, doi. 10.1038/ejhg.2012.35
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- Publication type:
- Article
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 352, doi. 10.1038/ejhg.2011.217
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- Publication type:
- Article