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Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.
- Published in:
- Nephrology Dialysis Transplantation, 2004, v. 19, n. 12, p. 3150, doi. 10.1093/ndt/gfh524
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- Publication type:
- Article
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.
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- Cells (2073-4409), 2023, v. 12, n. 4, p. 642, doi. 10.3390/cells12040642
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- Publication type:
- Article
Zunich Neuroectodermal Syndrome: Migratory Ichthyosiform Dermatosis, Colobomas, and Other Abnormalities.
- Published in:
- Pediatric Dermatology, 1996, v. 13, n. 5, p. 363, doi. 10.1111/j.1525-1470.1996.tb00702.x
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- Publication type:
- Article
A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.
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- Human Molecular Genetics, 2010, v. 19, n. 5, p. 848, doi. 10.1093/hmg/ddp553
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- Publication type:
- Article
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 870, doi. 10.1038/ejhg.2014.210
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- Publication type:
- Article
Vermindertes Haar- und Nagelwachstum, kraniofaziale Dysmorphie und Brachydaktylie.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2013, v. 11, n. 10, p. 1023, doi. 10.1111/ddg.12116
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- Article
Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse.
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- Genes, Chromosomes & Cancer, 2003, v. 37, n. 2, p. 111, doi. 10.1002/gcc.10206
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- Publication type:
- Article
Modifier Genes in Microcephaly: A Report on WDR62 , CEP63 , RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 731, doi. 10.3390/genes12050731
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- Publication type:
- Article
Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
- Published in:
- 2010
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- Publication type:
- Correction notice
Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 81, doi. 10.1038/ejhg.2009.129
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- Publication type:
- Article
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
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- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 184, doi. 10.1038/sj.ejhg.5201968
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- Publication type:
- Article
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.
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- European Journal of Human Genetics, 2008, v. 16, n. 1, p. 62, doi. 10.1038/sj.ejhg.5201923
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- Publication type:
- Article
Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 561, doi. 10.1038/sj.ejhg.5201568
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- Publication type:
- Article
Childhood overgrowth in patients with common NF1 microdeletions.
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- European Journal of Human Genetics, 2005, v. 13, n. 7, p. 883, doi. 10.1038/sj.ejhg.5201419
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- Publication type:
- Article
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 563, doi. 10.1038/sj.ejhg.5201391
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- Publication type:
- Article
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
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- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 858, doi. 10.1038/sj.ejhg.5201050
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- Publication type:
- Article
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
- Published in:
- 2003
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- Publication type:
- Correction Notice
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 201, doi. 10.1038/sj.ejhg.5200935
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- Publication type:
- Article
Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.
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- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 455, doi. 10.1038/sj.ejhg.5200493
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- Publication type:
- Article
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
- Published in:
- Electrophoresis, 2007, v. 28, n. 23, p. 4295, doi. 10.1002/elps.200700118
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- Publication type:
- Article
Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086115
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- Publication type:
- Article
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078496
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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
Macrocerebellum: Significance and Pathogenic Considerations.
- Published in:
- Cerebellum, 2012, v. 11, n. 4, p. 1026, doi. 10.1007/s12311-012-0379-1
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- Publication type:
- Article
A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Segmentally Arranged Basaloid Follicular Hamartomas with Osseous, Dental and Cerebral Anomalies: A Distinct Syndrome.
- Published in:
- Acta Dermato-Venereologica, 2008, v. 88, n. 4, p. 382, doi. 10.2340/00015555-0495
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- Publication type:
- Article
Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome.
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- 2019
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- Publication type:
- Case Study
A misplaced lncRNA causes brachydactyly in humans.
- Published in:
- 2012
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- Publication type:
- journal article
A misplaced IncRNA causes brachydactyly in humans.
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- Journal of Clinical Investigation, 2012, v. 122, n. 11, p. 3990, doi. 10.1172/JCI65508
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- Publication type:
- Article
Reply to “Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome” by Zappella et al.
- Published in:
- 2005
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- Publication type:
- Letter
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.
- Published in:
- 2005
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- Publication type:
- journal article
MIA is a potential biomarker for tumour load in neurofibromatosis type 1.
- Published in:
- BMC Medicine, 2011, v. 9, n. 1, p. 82, doi. 10.1186/1741-7015-9-82
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- Publication type:
- Article
Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.
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- Electrophoresis, 2000, v. 21, n. 3, p. 541, doi. 10.1002/(SICI)1522-2683(20000201)21:3<541::AID-ELPS541>3.0.CO;2-L
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- Publication type:
- Article
Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.
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- Electrophoresis, 1996, v. 17, n. 10, p. 1559, doi. 10.1002/elps.1150171011
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- Publication type:
- Article
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 113, doi. 10.1002/humu.20193
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- Publication type:
- Article
Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.
- Published in:
- Human Mutation, 2004, v. 23, n. 5, p. 526, doi. 10.1002/humu.9242
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- Publication type:
- Article
Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients.
- Published in:
- Human Mutation, 1999, v. 13, n. 3, p. 258, doi. 10.1002/(SICI)1098-1004(1999)13:3<258::AID-HUMU17>3.0.CO;2-1
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- Publication type:
- Article
A novel 5-bp deletion in exon 30 of the neurofibromatosis type 1 (NF1) gene.
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- Human Mutation, 1999, v. 13, n. 3, p. 259, doi. 10.1002/(SICI)1098-1004(1999)13:3<259::AID-HUMU19>3.0.CO;2-T
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- Publication type:
- Article
New evidence for a mutation hotspot in exon 37 of the NF1 gene.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 374, doi. 10.1002/(SICI)1098-1004(1997)9:4<374::AID-HUMU15>3.0.CO;2-#
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- Publication type:
- Article
Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.
- Published in:
- Human Mutation, 1996, v. 7, n. 1, p. 85, doi. 10.1002/(SICI)1098-1004(1996)7:1<85::AID-HUMU17>3.0.CO;2-O
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- Publication type:
- Article
Variable Ausprägung der Unterlippenfisteln beim Van-der-Woude-Syndrom.
- Published in:
- Oral & Maxillofacial Surgery, 2000, v. 4, n. 4, p. 222, doi. 10.1007/s100060000162
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- Publication type:
- Article
Phacomatosis Pigmentokeratotica Is Caused by a Postzygotic HRAS Mutation in a Multipotent Progenitor Cell.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 8, p. 1998, doi. 10.1038/jid.2013.24
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- Publication type:
- Article
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
- Published in:
- Human Mutation, 2017, v. 38, n. 4, p. 451, doi. 10.1002/humu.23175
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- Publication type:
- Article
Cover Image, Volume 38, Issue 4.
- Published in:
- Human Mutation, 2017, v. 38, n. 4, p. i, doi. 10.1002/humu.23215
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- Publication type:
- Article
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
- Published in:
- Human Mutation, 2016, v. 37, n. 9, p. 847, doi. 10.1002/humu.23026
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- Publication type:
- Article
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
- Published in:
- Human Mutation, 2010, v. 31, n. 6, p. 742, doi. 10.1002/humu.21254
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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
- By:
- Publication type:
- journal article
Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1.
- Published in:
- 2007
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- Publication type:
- journal article
Tentative Clinical Diagnosis of Lujan-Fryns Syndrome--A Conglomeration of Different Genetic Entities?
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 94, doi. 10.1002/ajmg.a.37378
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- Publication type:
- Article
Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3144, doi. 10.1002/ajmg.a.36155
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- Publication type:
- Article