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A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant

Frontiers in endocrinology (Lausanne), 2022-03, Vol.13, p.845889-845889

2022

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Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Cell, 2001-01, Vol.104 (2), p.195-203

2001

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Long‐term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

Journal of bone and mineral research, 2010-10, Vol.25 (10), p.2165-2174

2010

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Skull base abnormalities in osteogenesis imperfecta : a cephalometric evaluation of 54 patients and 108 control volunteers

Journal of neurosurgery, 2006-09, Vol.105 (3), p.361-370

2006

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A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

Nature genetics, 1995-07, Vol.10 (3), p.357-359

1995

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Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

American journal of human genetics, 1998-12, Vol.63 (6), p.1651-1658

1998

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Additional EFNB1 mutations in craniofrontonasal syndrome

American journal of medical genetics. Part A, 2008-08, Vol.146A (15), p.2008-2012

2008

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Location on Chromosome 15 of the Gene Defect Causing Marfan Syndrome

The New England journal of medicine, 1990-10, Vol.323 (14), p.935-939

1990

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Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause

Pediatrics (Evanston), 2002-03, Vol.109 (3), p.441-448

2002

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Familial asphyxiating thoracic dysplasia: Clinical variability and impact of improved neonatal intensive care

The Journal of pediatrics, 2001-07, Vol.139 (1), p.130-133

2001

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Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta

Journal of bone and mineral research, 2012-05, Vol.27 (5), p.1142-1149

2012

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Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I

Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.69-74

2015

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Nosology and classification of genetic skeletal disorders: 2006 revision

American journal of medical genetics. Part A, 2007-01, Vol.143A (1), p.1-18

2007

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Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients

Pediatric research, 2013-12, Vol.74 (6), p.712-720

2013

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Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum

American journal of human genetics, 2007-09, Vol.81 (3), p.519-529

2007

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Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma

American journal of medical genetics. Part A, 2008-09, Vol.146A (18), p.2370-2375

2008

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Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database

Human mutation, 2003-09, Vol.22 (3), p.199-208

2003

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Identification of a novel common genetic risk factor for lumbar disk disease

JAMA : the journal of the American Medical Association, 2001-04, Vol.285 (14), p.1843

2001

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Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle

Journal of clinical gastroenterology, 2009-05, Vol.43 (5), p.437-443

2009

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Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland

Journal of rehabilitation medicine, 2013-03, Vol.45 (3), p.308-313

2013

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Hearing Loss in Finnish Adults with Osteogenesis Imperfecta: A Nationwide Survey

Annals of otology, rhinology & laryngology, 2002-10, Vol.111 (10), p.939-946

2002

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Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

Human mutation, 2004-08, Vol.24 (2), p.147-154

2004

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Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

Molecular syndromology, 2014-12, Vol.5 (6), p.259-267

2014

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Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

Nature genetics, 1992, Vol.2 (3), p.204-211

1992

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A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant

Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia

Long‐term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

Skull base abnormalities in osteogenesis imperfecta : a cephalometric evaluation of 54 patients and 108 control volunteers

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

Additional EFNB1 mutations in craniofrontonasal syndrome

Location on Chromosome 15 of the Gene Defect Causing Marfan Syndrome

Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause

Familial asphyxiating thoracic dysplasia: Clinical variability and impact of improved neonatal intensive care

Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta

Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I

Nosology and classification of genetic skeletal disorders: 2006 revision

Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients

Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum

Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma

Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database

Identification of a novel common genetic risk factor for lumbar disk disease

Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland

Hearing Loss in Finnish Adults with Osteogenesis Imperfecta: A Nationwide Survey

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

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