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Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.
- Published in:
- Journal of Cancer Research & Clinical Oncology, 2005, v. 131, n. 8, p. 552, doi. 10.1007/s00432-005-0678-8
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- Publication type:
- Article
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
- Published in:
- 2008
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- Publication type:
- journal article
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.
- Published in:
- 2005
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- Publication type:
- journal article
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.
- Published in:
- European Journal of Pediatrics, 2002, v. 161, n. 11, p. 619, doi. 10.1007/s00431-002-0977-x
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- Publication type:
- Article
Severe cleidocranial dysplasia can mimic hypophosphatasia.
- Published in:
- European Journal of Pediatrics, 2002, v. 161, n. 11, p. 623, doi. 10.1007/s00431-002-0978-9
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- Publication type:
- Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, p. 1, doi. 10.1038/s41467-023-37057-z
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- Publication type:
- Article
A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 318, doi. 10.1159/000479721
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- Publication type:
- Article
Clinical Exome/Genome Reports-Announcement.
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- Clinical Genetics, 2015, v. 87, n. 2, p. 99, doi. 10.1111/cge.12556
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- Publication type:
- Article
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/ split-foot malformation: array CGH screening of 134 unrelated families.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0108-6
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- Publication type:
- Article
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families.
- Published in:
- 2014
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- Publication type:
- journal article
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 7, p. e3048, doi. 10.1210/clinem/dgac147
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- Publication type:
- Article
Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation.
- Published in:
- 2010
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- Publication type:
- journal article
The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization.
- Published in:
- 2009
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- Publication type:
- journal article
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis.
- Published in:
- 2009
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- Publication type:
- journal article
Mutant Hoxd l3 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis.
- Published in:
- Journal of Clinical Investigation, 2009, v. 119, n. 1, p. 146, doi. 10.1172/JC136851
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- Publication type:
- Article
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
- Published in:
- 2005
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- Publication type:
- journal article
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
- Published in:
- 2005
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- Publication type:
- journal article
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.
- Published in:
- Journal of Clinical Investigation, 2005, v. 115, n. 4, p. 900, doi. 10.1172/JCI200523675
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- Publication type:
- Article
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
- Published in:
- Human Genetics, 2024, v. 143, n. 5, p. 683, doi. 10.1007/s00439-024-02669-y
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- Publication type:
- Article
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
- Published in:
- Human Genetics, 2021, v. 140, n. 10, p. 1459, doi. 10.1007/s00439-021-02344-6
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- Publication type:
- Article
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 8, p. 419, doi. 10.1038/jhg.2015.48
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- Publication type:
- Article
Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.
- Published in:
- 2010
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- Publication type:
- journal article
L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D68, doi. 10.1093/nar/gkw925
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- Publication type:
- Article
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process.
- Published in:
- Nucleic Acids Research, 2012, v. 40, n. 6, p. 2426, doi. 10.1093/nar/gkr1073
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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
A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 100, doi. 10.1002/ajmg.a.62994
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- Publication type:
- Article
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2068, doi. 10.1002/ajmg.a.61735
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- Publication type:
- Article
Nosology and classification of genetic skeletal disorders: 2019 revision.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2393, doi. 10.1002/ajmg.a.61366
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- Publication type:
- Article
A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2028, doi. 10.1002/ajmg.a.40379
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- Publication type:
- Article
Cutis laxa and excessive bone growth due to de novo mutations in <italic>PTDSS1</italic>.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 668, doi. 10.1002/ajmg.a.38604
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- Publication type:
- Article
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1202, doi. 10.1002/ajmg.a.37560
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- Publication type:
- Article
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1080, doi. 10.1002/ajmg.a.37547
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- Publication type:
- Article
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 615, doi. 10.1002/ajmg.a.37464
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- Publication type:
- Article
Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2869, doi. 10.1002/ajmg.a.37365
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- Publication type:
- Article
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3170, doi. 10.1002/ajmg.a.36772
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- Publication type:
- Article
A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 898, doi. 10.1002/ajmg.a.36367
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- Publication type:
- Article
Promiscuous and Depolarization-Induced Immediate-Early Response Genes Are Induced by Mechanical Strain of Osteoblasts.
- Published in:
- Journal of Bone & Mineral Research, 2009, v. 24, n. 7, p. 1247, doi. 10.1359/JBMR.090206
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- Publication type:
- Article
PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 647, doi. 10.1038/ng.3302
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- Publication type:
- Article
A restricted spectrum of NRAS mutations causes Noonan syndrome.
- Published in:
- Nature Genetics, 2010, v. 42, n. 1, p. 27, doi. 10.1038/ng.497
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- Publication type:
- Article
Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia.
- Published in:
- 2009
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- Publication type:
- Letter
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H<sup>+</sup>-ATPase subunit ATP6V0A2.
- Published in:
- Nature Genetics, 2008, v. 40, n. 1, p. 32, doi. 10.1038/ng.2007.45
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- Publication type:
- Article
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
- Published in:
- Nature Genetics, 2001, v. 28, n. 1, p. 37, doi. 10.1038/ng0501-37
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- Publication type:
- Article
Mouse clavicular development: Analysis of wild-type and cleidocranial dysplasia mutant mice.
- Published in:
- Developmental Dynamics, 1997, v. 210, n. 1, p. 33, doi. 10.1002/(SICI)1097-0177(199709)210:1<33::AID-AJA4>3.0.CO;2-2
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- Publication type:
- Article
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 5, p. 404, doi. 10.1002/pd.327
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- Publication type:
- Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
- By:
- Publication type:
- Article
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
- By:
- Publication type:
- Article
TADA—a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs.
- Published in:
- Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02631-z
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- Publication type:
- Article
LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2022, v. 15, n. 3, p. 421, doi. 10.1002/aur.2677
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- Publication type:
- Article
Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119030
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- Publication type:
- Article