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Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred.
- Published in:
- Calcified Tissue International, 2014, v. 94, n. 2, p. 240, doi. 10.1007/s00223-013-9804-9
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- Publication type:
- Article
The Heterozygous Lemd3<sup> +/GT</sup> Mouse Is Not a Murine Model for Osteopoikilosis in Humans.
- Published in:
- Calcified Tissue International, 2009, v. 85, n. 6, p. 546, doi. 10.1007/s00223-009-9305-z
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- Publication type:
- Article
Clinical characterization of the first Belgian SCN5A founder mutation cohort.
- Published in:
- 2021
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- Publication type:
- journal article
Unexpected Severe Respiratory Insufficiency in a Newborn with Holt–Oram Syndrome.
- Published in:
- Journal of Perinatology, 2005, v. 25, n. 11, p. 745, doi. 10.1038/sj.jp.7211384
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- Publication type:
- Article
Tetrasomy and pentasomy of the X chromosome.
- Published in:
- 2011
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- Publication type:
- journal article
Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS.
- Published in:
- 2006
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- Publication type:
- journal article
Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 191, doi. 10.1159/000527043
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- Publication type:
- Article
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 3, p. 342, doi. 10.1111/cge.12990
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- Publication type:
- Article
Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.
- Published in:
- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2016, v. 160, n. 3, p. 442, doi. 10.5507/bp.2016.022
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- Publication type:
- Article
Human Genetics of Sclerosing Bone Disorders.
- Published in:
- Current Osteoporosis Reports, 2018, v. 16, n. 3, p. 256, doi. 10.1007/s11914-018-0439-7
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- Publication type:
- Article
Sclerosing Bone Dysplasias: Leads Toward Novel Osteoporosis Treatments.
- Published in:
- Current Osteoporosis Reports, 2014, v. 12, n. 3, p. 243, doi. 10.1007/s11914-014-0220-5
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- Publication type:
- Article
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-78
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- Publication type:
- Article
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
- Published in:
- 2013
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- Publication type:
- journal article
A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 7, p. 1891, doi. 10.1210/clinem/dgad757
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- Publication type:
- Article
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.
- Published in:
- 2020
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- Publication type:
- journal article
Hyperkalemia in young children: blood pressure checked?
- Published in:
- 2016
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- Publication type:
- journal article
Whole genome sequencing of a dizygotic twin suggests a role for the serotonin receptor HTR7 in autism spectrum disorder.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 8, p. 1049, doi. 10.1002/ajmg.b.32473
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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
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 338, doi. 10.1002/ajmg.a.61414
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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
An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1709, doi. 10.1002/ajmg.a.61267
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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
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1627, doi. 10.1002/ajmg.a.36501
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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
A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2645, doi. 10.1002/ajmg.a.36132
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- Publication type:
- Article
Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1948, doi. 10.1002/ajmg.a.35301
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- Publication type:
- Article
Objective assessment of nasality in flemish adults with neurofibromatosis type 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2974, doi. 10.1002/ajmg.a.34314
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- Publication type:
- Article
Mutations in the TGF-? repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
- Published in:
- Nature Genetics, 2012, v. 44, n. 11, p. 1249, doi. 10.1038/ng.2421
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- Publication type:
- Article
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
- Published in:
- Nature Genetics, 2010, v. 42, n. 6, p. 483, doi. 10.1038/ng.581
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- Publication type:
- Article
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
- Published in:
- Nature Genetics, 2008, v. 40, n. 3, p. 287, doi. 10.1038/ng.86
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- Publication type:
- Article
Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome.
- Published in:
- Nature Genetics, 2002, v. 32, n. 3, p. 448
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- Publication type:
- Article
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
- Published in:
- Nature Genetics, 2001, v. 28, n. 4, p. 393, doi. 10.1038/ng573
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- Publication type:
- Article
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 4, p. 1, doi. 10.1371/journal.pgen.1007321
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- Publication type:
- Article
WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.
- Published in:
- Frontiers in Endocrinology, 2020, p. 1, doi. 10.3389/fendo.2020.00165
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- Publication type:
- Article
Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2012, v. 5, n. 4, p. 277, doi. 10.1002/aur.1240
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- Publication type:
- Article
Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 6, p. 3010, doi. 10.1210/jc.2009-2218
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- Publication type:
- Article
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 4, p. 1, doi. 10.1210/jendso/bvac019
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- Publication type:
- Article
Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.
- Published in:
- Human Genetics, 2000, v. 106, n. 4, p. 425, doi. 10.1007/s004390000265
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- Publication type:
- Article
Preexisting memory CD4 T cells in naïve individuals confer robust immunity upon hepatitis B vaccination.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.68388
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- Publication type:
- Article
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 224, doi. 10.1038/ejhg.2014.61
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- Publication type:
- Article
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 652, doi. 10.1038/ejhg.2013.220
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- Publication type:
- Article
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 534, doi. 10.1038/ejhg.2011.239
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- Publication type:
- Article
Nasal speech in patients with 12q15 microdeletions.
- Published in:
- 2012
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- Publication type:
- Letter
Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1032, doi. 10.1038/ejhg.2011.67
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- Publication type:
- Article
Czech dysplasia metatarsal type: another type II collagen disorder.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1269, doi. 10.1038/sj.ejhg.5201913
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- Publication type:
- Article
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 743, doi. 10.1038/sj.ejhg.5201833
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- Publication type:
- Article
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201744
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- Publication type:
- Article
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.
- Published in:
- 2004
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- Publication type:
- Report
Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 606, doi. 10.1038/sj.ejhg.5200690
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- Publication type:
- Article
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
- By:
- Publication type:
- Article