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Root resorptions induced by genetic disorders: A systematic review.
- Published in:
- Oral Diseases, 2024, v. 30, n. 6, p. 3799, doi. 10.1111/odi.14942
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- Publication type:
- Article
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.
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- 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.
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- 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.
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- Human Genetics, 2001, v. 108, n. 6, p. 511, doi. 10.1007/s004390100522
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- Publication type:
- Article
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
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- Journal of Bone & Mineral Research, 2024, v. 39, n. 3, p. 287, doi. 10.1093/jbmr/zjad020
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- Article
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
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- Journal of Bone & Mineral Research, 2022, v. 37, n. 9, p. 1642, doi. 10.1002/jbmr.4639
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- Publication type:
- Article
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
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- Journal of Bone & Mineral Research, 2021, v. 36, n. 2, p. 283, doi. 10.1002/jbmr.4177
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- Article
Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.
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- Journal of Bone & Mineral Research, 2020, v. 35, n. 8, p. 1470, doi. 10.1002/jbmr.4011
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- Article
Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.
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- FASEB Journal, 2019, v. 33, n. 2, p. 2707, doi. 10.1096/fj.201800753RR
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- Article
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.
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- BMC Medical Informatics & Decision Making, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12911-024-02538-8
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- Publication type:
- Article
The ADAMTS(L) family and human genetic disorders.
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- Human Molecular Genetics, 2011, v. 20, n. R2, p. R163, doi. 10.1093/hmg/ddr361
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- Publication type:
- Article
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
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- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1714, doi. 10.1093/hmg/ddp062
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- Publication type:
- Article
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
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- Human Molecular Genetics, 2009, v. 18, n. 3, p. 440, doi. 10.1093/hmg/ddn371
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- Publication type:
- Article
C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle.
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- Nature Communications, 2015, v. 6, n. 4, p. 6894, doi. 10.1038/ncomms7894
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- 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
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
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- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1002, doi. 10.1038/ejhg.2013.258
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- Article
Clinical Utility Gene Card for: 3-M syndrome - Update 2013.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.156
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- Article
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
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- 2022
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- journal article
Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4321, doi. 10.3390/ijms22094321
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- Article
Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3735, doi. 10.3390/ijms22073735
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- Article
Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.
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- Prenatal Diagnosis, 2024, v. 44, n. 9, p. 1098, doi. 10.1002/pd.6631
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- Article
Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease).
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- Prenatal Diagnosis, 2009, v. 29, n. 9, p. 892, doi. 10.1002/pd.2302
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- Publication type:
- Article
Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker.
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- Genes, 2021, v. 12, n. 11, p. 1654, doi. 10.3390/genes12111654
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- Article
Clinical utility gene card for: 3M syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.32
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- Article
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.
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- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 227, doi. 10.1038/ejhg.2009.162
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- Publication type:
- Article
In vitro readthrough of termination codons by gentamycin in the Stüve–Wiedemann Syndrome.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 130, doi. 10.1038/ejhg.2009.122
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- Publication type:
- Article
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
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- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1240, doi. 10.1038/sj.ejhg.5201700
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- Article
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
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- 2006
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- Correction notice
Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.
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- European Journal of Human Genetics, 2006, v. 14, n. 6, p. 759, doi. 10.1038/sj.ejhg.5201613
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- Publication type:
- Article
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1033, doi. 10.1038/sj.ejhg.5201448
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- Article
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 541, doi. 10.1038/sj.ejhg.5201339
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- Publication type:
- Article
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 690, doi. 10.1038/sj.ejhg.5201383
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- Article
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.
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- European Journal of Human Genetics, 2002, v. 10, n. 11, p. 699, doi. 10.1038/sj.ejhg.5200879
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- Article
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
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- European Journal of Human Genetics, 2001, v. 9, n. 5, p. 319, doi. 10.1038/sj.ejhg.5200591
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- Article
Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
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- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 27, doi. 10.1038/sj.ejhg.5200240
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- Article
Prenatal diagnosis in CDG1 families: beware of heterogeneity.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 99, doi. 10.1038/sj.ejhg.5200161
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- Article
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
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- Advances in Therapy, 2024, v. 41, n. 7, p. 2545, doi. 10.1007/s12325-024-02880-3
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- Article
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
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- Advances in Therapy, 2024, v. 41, n. 1, p. 198, doi. 10.1007/s12325-023-02705-9
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- Publication type:
- Article
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
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- Nature Genetics, 2012, v. 44, n. 4, p. 445, doi. 10.1038/ng.1105
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- Publication type:
- Article
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
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- Nature Genetics, 2012, v. 44, n. 1, p. 85, doi. 10.1038/ng.1016
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- Article
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
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- Nature Genetics, 2011, v. 43, n. 4, p. 306, doi. 10.1038/ng.778
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- Publication type:
- Article
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation.
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- Nature Genetics, 2008, v. 40, n. 9, p. 1119, doi. 10.1038/ng.199
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- Article
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
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- Nature Genetics, 2008, v. 40, n. 3, p. 284, doi. 10.1038/ng.2007.66
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- Article
The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia.
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- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004311
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- Article
Defect in N-glycosylation of proteins is tissue-dependent in Congenital Disorders of Glycosylation Ia.
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- Glycobiology, 2000, v. 10, n. 12, p. 1277, doi. 10.1093/glycob/10.12.1277
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- Article
Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.
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- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.642097
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- Article
Respiratory chain deficiency presenting as congenital nephrotic syndrome.
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- Pediatric Nephrology, 2005, v. 20, n. 4, p. 465, doi. 10.1007/s00467-004-1725-4
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- Article
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 5, p. 309, doi. 10.1159/000448282
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- Article
Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort.
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- Hormone Research in Paediatrics, 2015, v. 82, n. 6, p. 355, doi. 10.1159/000364807
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- Publication type:
- Article