Found: 57
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Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms.
- Published in:
- Human Genetics, 2009, v. 126, n. 4, p. 559, doi. 10.1007/s00439-009-0704-z
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- Publication type:
- Article
A new acro-osteolysis syndrome caused by duplications including PTHLH.
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- Journal of Human Genetics, 2014, v. 59, n. 9, p. 484, doi. 10.1038/jhg.2014.58
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- Publication type:
- Article
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
- Published in:
- 2015
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- Publication type:
- Case Study
A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker.
- Published in:
- 2014
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- Publication type:
- Case Study
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders†.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4791, doi. 10.1093/hmg/ddp442
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- Publication type:
- Article
Telomere length and periodontal attachment loss: a prospective cohort study.
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- Journal of Clinical Periodontology, 2016, v. 43, n. 2, p. 121, doi. 10.1111/jcpe.12499
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- Publication type:
- Article
Association of mutations in FLNA with craniosynostosis.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1684, doi. 10.1038/ejhg.2015.31
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- Publication type:
- Article
Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 528, doi. 10.3390/genes12040528
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- Publication type:
- Article
Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis.
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- Genes, 2020, v. 11, n. 12, p. 1439, doi. 10.3390/genes11121439
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- Publication type:
- Article
Metformin rescues migratory deficits of cells derived from patients with periventricular heterotopia.
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- EMBO Molecular Medicine, 2023, v. 15, n. 10, p. 1, doi. 10.15252/emmm.202216908
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- Publication type:
- Article
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 55, doi. 10.1038/ejhg.2012.117
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- Publication type:
- Article
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance.
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- European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1024, doi. 10.1038/ejhg.2012.57
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- Publication type:
- Article
Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 122, doi. 10.1038/ejhg.2011.125
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- Publication type:
- Article
A missense mutation in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
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- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1176, doi. 10.1038/ejhg.2008.91
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- Publication type:
- Article
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 3, doi. 10.1038/sj.ejhg.5201654
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- Publication type:
- Article
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 549, doi. 10.1038/sj.ejhg.5201586
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- Publication type:
- Article
Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex.
- Published in:
- Frontiers in Cellular Neuroscience, 2018, p. 1, doi. 10.3389/fncel.2018.00057
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- Publication type:
- Article
Genomic medicine must reduce, not compound, health inequities: the case for hauora-enhancing genomic resources for New Zealand.
- Published in:
- 2018
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- Publication type:
- journal article
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 303, doi. 10.1038/ng.779
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- Publication type:
- Article
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
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- Nature Genetics, 2003, v. 33, n. 4, p. 487
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- Publication type:
- Article
A Case of Boomerang Dysplasia with a Novel Causative Mutation in Filamin B: Identification of Typical Imaging Findings on Ultrasonography and 3D-CT Imaging.
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- Fetal Diagnosis & Therapy, 2012, v. 32, n. 3, p. 216, doi. 10.1159/000335687
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- Publication type:
- Article
Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model.
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- Bone Research, 2022, v. 10, n. 1, p. 1, doi. 10.1038/s41413-022-00200-5
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- Publication type:
- Article
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.
- Published in:
- 2020
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- Publication type:
- journal article
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 12, p. 1151, doi. 10.1002/pd.1576
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- Publication type:
- Article
Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family.
- Published in:
- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0440-0
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- Publication type:
- Article
Response: Filamin A, Periventricular Nodular Heterotopia, and West Syndrome.
- Published in:
- 2006
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- Publication type:
- Letter
Mutations in the netrin-1 gene cause congenital mirror movements.
- Published in:
- Journal of Clinical Investigation, 2017, v. 127, n. 11, p. 3923, doi. 10.1172/JCI95442
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- Publication type:
- Article
Expanding the molecular and clinical phenotypes of FUT8‐CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 871, doi. 10.1002/jimd.12221
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- Publication type:
- Article
ECE2 regulates neurogenesis and neuronal migration during human cortical development.
- Published in:
- EMBO Reports, 2020, v. 21, n. 5, p. 1, doi. 10.15252/embr.201948204
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- Publication type:
- Article
Mitochondrial disease in New Zealand: a nationwide prevalence study.
- Published in:
- Internal Medicine Journal, 2024, v. 54, n. 3, p. 388, doi. 10.1111/imj.16211
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- Publication type:
- Article
A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3144, doi. 10.1002/ajmg.a.34311
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- Publication type:
- Article
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS).
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1848, doi. 10.1002/ajmg.a.34057
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- Publication type:
- Article
CALCIUM DEPENDENT REGULATION OF BRAIN AND CARDIAC MUSCLE ADENYLATE CYCLASE.
- Published in:
- Annals of the New York Academy of Sciences, 1980, v. 356, n. 1, p. 220, doi. 10.1111/j.1749-6632.1980.tb29613.x
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- Publication type:
- Article
Mutations in two regions of FLNB result in atelosteogenesis I and III.
- Published in:
- Human Mutation, 2006, v. 27, n. 7, p. 705, doi. 10.1002/humu.20348
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- Publication type:
- Article
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
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- PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007281
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- Publication type:
- Article
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
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- Human Mutation, 2021, v. 42, n. 8, p. 1030, doi. 10.1002/humu.24237
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- Publication type:
- Article
Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1645, doi. 10.1002/humu.24071
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- Publication type:
- Article
Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
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- Human Mutation, 2020, v. 41, n. 7, p. 1238, doi. 10.1002/humu.24009
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- Publication type:
- Article
The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis.
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- Human Mutation, 2020, v. 41, n. 5, p. 865, doi. 10.1002/humu.24002
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- Publication type:
- Article
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 103, doi. 10.1002/humu.23355
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- Publication type:
- Article
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
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- Human Mutation, 2017, v. 38, n. 10, p. 1360, doi. 10.1002/humu.23281
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- Publication type:
- Article
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1520, doi. 10.1002/humu.22141
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- Publication type:
- Article
Fibulin-3 knockout mice demonstrate corneal dysfunction but maintain normal retinal integrity.
- Published in:
- Journal of Molecular Medicine, 2020, v. 98, n. 11, p. 1639, doi. 10.1007/s00109-020-01974-z
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- Publication type:
- Article
Hypogonadotrophic hypogonadism in Roifman syndrome.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 6, p. 435, doi. 10.1034/j.1399-0004.2000.570606.x
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- Publication type:
- Article
The 4q-syndrome: delineation of the minimal critical region to within band 4q31.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 1, p. 70, doi. 10.1111/j.1399-0004.1998.tb02585.x
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- Publication type:
- Article
Nosology of genetic skeletal disorders: 2023 revision.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1164, doi. 10.1002/ajmg.a.63132
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- Publication type:
- Article
Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3675, doi. 10.1002/ajmg.a.62424
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- Publication type:
- Article
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3814, doi. 10.1002/ajmg.a.62417
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- Publication type:
- Article
Frontometaphyseal dysplasia 1 in a patient from Sri Lanka.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1317, doi. 10.1002/ajmg.a.62058
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- Publication type:
- Article
A recurrent mutation causing Melnick‐Needles syndrome in females confers a severe, lethal phenotype in males.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 980, doi. 10.1002/ajmg.a.38651
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- Publication type:
- Article