Found: 27
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Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 5, p. 2421, doi. 10.1007/s00431-024-05456-z
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- Publication type:
- Article
Marfan syndrome in childhood: parents' perspectives of the impact on daily functioning of children, parents and family; a qualitative study.
- Published in:
- 2019
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- Publication type:
- journal article
Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 831, doi. 10.3390/genes12060831
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- Publication type:
- Article
Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome.
- Published in:
- European Journal of Endocrinology, 2013, v. 167, n. 1, p. 91, doi. 10.1530/EJE-12-0404
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- Publication type:
- Article
Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 91, n. 5, p. 293, doi. 10.1159/000500810
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- Publication type:
- Article
Comparison of Body Surface Area versus Weight-Based Growth Hormone Dosing for Girls with Turner Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 5, p. 319, doi. 10.1159/000357844
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- Publication type:
- Article
Effect of Oxandrolone on Glucose Metabolism in Growth Hormone-Treated Girls with Turner Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2011, v. 75, n. 2, p. 115, doi. 10.1159/000319313
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- Publication type:
- Article
Comments on 'Prospective Study Confirms Oxandrolone-Associated Improvement in Height in Growth Hormone-Treated Adolescent Girls with Turner Syndrome' by Zeger et al., pp. 39-47, this issue.
- Published in:
- 2011
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- Publication type:
- Letter
Primrose syndrome: Characterization of the phenotype in 42 patients.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 890, doi. 10.1111/cge.13749
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- Publication type:
- Article
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 723, doi. 10.1111/cge.13700
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- Publication type:
- Article
Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 4, p. 462, doi. 10.1111/cge.13506
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- Publication type:
- Article
Efficacy and Safety of Oxandrolone in Growth Hormone-Treated Girls with Turner Syndrome.
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- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 3, p. 1151, doi. 10.1210/jc.2009-1821
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- Publication type:
- Article
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
- Published in:
- Human Genetics, 2020, v. 139, n. 5, p. 575, doi. 10.1007/s00439-020-02138-2
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- Publication type:
- Article
Marfan syndrome in adolescence: adolescents' perspectives on (physical) functioning, disability, contextual factors and support needs.
- Published in:
- 2019
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- Publication type:
- journal article
Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1173, doi. 10.1002/humu.23565
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- Publication type:
- Article
Natural history of KBG syndrome in a large European cohort.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 24, p. 4131, doi. 10.1093/hmg/ddac167
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- Publication type:
- Article
Somatic symptoms, pain, catastrophizing and the association with disability among children with heritable connective tissue disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1792, doi. 10.1002/ajmg.a.63204
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- Publication type:
- Article
Severe early‐onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1476, doi. 10.1002/ajmg.a.63154
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- Publication type:
- Article
Fatal gastrointestinal complications in Pitt‐Hopkins syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 855, doi. 10.1002/ajmg.a.63079
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- Publication type:
- Article
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 479, doi. 10.1002/ajmg.a.63047
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- Publication type:
- Article
Elements of morphology: Standard terminology for the trunk and limbs.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3191, doi. 10.1002/ajmg.a.62965
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- Publication type:
- Article
Heritable connective tissue disorders in childhood: Decreased health‐related quality of life and mental health.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2096, doi. 10.1002/ajmg.a.62750
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- Publication type:
- Article
Parenting a child with Marfan syndrome: Distress and everyday problems.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 50, doi. 10.1002/ajmg.a.61906
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- Publication type:
- Article
Further delineation of an entity caused by <italic>CREBBP</italic> and <italic>EP300</italic> mutations but not resembling Rubinstein–Taybi syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 862, doi. 10.1002/ajmg.a.38626
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- Publication type:
- Article
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2681, doi. 10.1002/ajmg.a.37800
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- Publication type:
- Article
The effect of oxandrolone on body proportions and body composition in growth hormone-treated girls with Turner syndrome.
- Published in:
- Clinical Endocrinology, 2010, v. 73, n. 2, p. 212, doi. 10.1111/j.1365-2265.2010.03789.x
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- Publication type:
- Article
Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 14, p. 1598, doi. 10.1177/0883073816666474
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- Publication type:
- Article