Works matching Aarskog syndrome
Results: 75
Identifying Aarskog Syndrome.
- Published in:
- 2016
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- Publication type:
- Case Study
Mild Optic Nerve Hypoplasia with Retinal Venous Tortuosity in Aarskog (Facial-Digital-Genital) Syndrome.
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- Ophthalmic Genetics, 2005, v. 26, n. 3, p. 139, doi. 10.1080/13816810500229025
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- Article
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 197, doi. 10.1002/mgg3.132
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- Publication type:
- Article
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.
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- European Journal of Pediatrics, 2014, v. 173, n. 10, p. 1373, doi. 10.1007/s00431-014-2317-3
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- Article
Novel variant in the FGD1 gene causing Aarskog-Scott syndrome.
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- Experimental & Therapeutic Medicine, 2017, v. 13, n. 6, p. 2623, doi. 10.3892/etm.2017.4301
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- Article
Aarskog-Scott syndrome: An unusual cause of scoliosis.
- Published in:
- 2017
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- Publication type:
- Case Study
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
- Published in:
- 2017
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- Publication type:
- journal article
Brief Report: Autism and Aarskog Syndrome.
- Published in:
- Journal of Autism & Developmental Disorders, 1999, v. 29, n. 2, p. 179, doi. 10.1023/A:1023005029949
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- Publication type:
- Article
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 869, doi. 10.1038/sj.ejhg.5200553
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- Publication type:
- Article
The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
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- Genetics Research, 2021, p. 1, doi. 10.1155/2021/6652957
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- Publication type:
- Article
Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
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- 2012
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- Publication type:
- Letter to the Editor
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. -1, doi. 10.1038/ejhg.2014.178
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- Publication type:
- Article
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
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- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.108
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- Publication type:
- Article
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
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- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 16, doi. 10.1038/sj.ejhg.5201081
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- Publication type:
- Article
The Aarskog-Scott Syndrome Protein Fgd1 Regulates Podosome Formation and Extracellular Matrix Remodeling in Transforming Growth Factor β-Stimulated Aortic Endothelial Cells.
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- Molecular & Cellular Biology, 2011, v. 31, n. 22, p. 4430, doi. 10.1128/MCB.05474-11
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- Publication type:
- Article
Aarskog-Scott syndrome: A perspective on growth and the influence of growth hormone therapy: Case-based review of literature.
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- Chrismed: Journal of Health & Research, 2015, v. 2, n. 4, p. 356, doi. 10.4103/2348-3334.165745
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- Article
Mania with Aarskog-Scott Syndrome.
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- Indian Pediatrics, 2012, v. 49, n. 4, p. 327
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- Publication type:
- Article
A novel mutation in a mother and a son with Aarskog-Scott syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 3/4, p. 385, doi. 10.1515/jpem-2012-0233
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- Publication type:
- Article
Growth Hormone Treatment in Aarskog Syndrome: Analysis of the KIGS (Pharmacia International Growth Database) Data.
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- Journal of Pediatric Endocrinology & Metabolism, 2003, v. 16, n. 8, p. 1137, doi. 10.1515/jpem.2003.16.8.1137
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- Publication type:
- Article
Anaesthetic considerations in Aarskog Scott Syndrome: A syndrome new to our understanding.
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- Saudi Journal of Anaesthesia, 2021, v. 15, n. 2, p. 216, doi. 10.4103/sja.sja_1047_20
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- Publication type:
- Article
Aortic root aneurysm in a patient with Aarskog–Scott syndrome.
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- 2022
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- Publication type:
- Case Study
Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.932073
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- Publication type:
- Article
FGD1-related Aarskog–Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.
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- European Journal of Pediatrics, 2024, v. 183, n. 5, p. 2257, doi. 10.1007/s00431-024-05484-9
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- Publication type:
- Article
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
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- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 9, p. 1111, doi. 10.1515/jpem-2015-0482
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- Publication type:
- Article
Syndromic Disorders with Short Stature.
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- Journal of Clinical Research in Pediatric Endocrinology, 2014, v. 6, n. 1, p. 1, doi. 10.4274/Jcrpe.1149
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- Publication type:
- Article
AARSKOG Scott Syndrome Presenting As Syndromic Growth Failure and Speech Delay.
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- Journal of Cardiovascular Disease Research (Journal of Cardiovascular Disease Research), 2023, v. 14, n. 6, p. 141
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- Publication type:
- Article
Rare health conditions 51: Aarskog syndrome, Adie syndrome, autoimmune hepatitis, Fowler’s syndrome.
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- British Journal of Healthcare Assistants, 2021, v. 15, n. 9, p. 452, doi. 10.12968/bjha.2021.15.9.452
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- Article
Cerebrovascular disease associated with Aarskog-Scott syndrome.
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- Neuroradiology, 2007, v. 49, n. 5, p. 457, doi. 10.1007/s00234-007-0209-1
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- Article
Aarskog Syndrome - A Rare Case Report.
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- Indian Journal of Public Health Research & Development, 2012, v. 3, n. 3, p. 225
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- Publication type:
- Article
The Effect of Growth Hormone Treatment on Stature in Aarskog Syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 2, p. 161, doi. 10.1515/jpem.1999.12.2.161
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- Publication type:
- Article
P-701 - Executive dysfunctions as part of the behavioural phenotype of aarskog-scott syndrome
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- 2012
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- Publication type:
- Abstract
Aarskog–Scott syndrome and atopic dermatitis successfully treated with dupilumab: a casual presentation?
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- Clinical & Experimental Dermatology, 2022, v. 47, n. 2, p. 452, doi. 10.1111/ced.14924
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- Publication type:
- Article
Velopharyngeal Characteristics in Aarskog–Scott Syndrome: A Case Report.
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- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 5, p. 892, doi. 10.1177/10556656221141235
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- Publication type:
- Article
A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.
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- Clinical Pediatric Endocrinology, 2024, v. 33, n. 1, p. 39, doi. 10.1297/cpe.2023-0027
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- Publication type:
- Article
Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome.
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- Human Mutation, 2013, v. 34, n. 3, p. 430, doi. 10.1002/humu.22252
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- Publication type:
- Article
Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2251, doi. 10.1002/ajmg.a.62753
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- Publication type:
- Article
A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3161, doi. 10.1002/ajmg.a.62401
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- Article
Aarskog-Scott Syndrome.
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- Journal of the College of Physicians & Surgeons Pakistan, 2013, v. 23, n. 5, p. 378
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- Publication type:
- Article
Aarskog syndrome: New oral-facial findings.
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- Clinical Genetics, 1976, v. 9, n. 1, p. 20, doi. 10.1111/j.1399-0004.1976.tb01545.x
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- Publication type:
- Article
The Aarskog syndrome in three brothers.
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- Clinical Genetics, 1974, v. 6, n. 2, p. 119, doi. 10.1111/j.1399-0004.1974.tb00639.x
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- Publication type:
- Article
Surgical management of endobronchial hamartoma.
- Published in:
- Lung India, 2018, v. 35, n. 2, p. 179, doi. 10.4103/lungindia.lungindia_209_17
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- Publication type:
- Article
THE AARSKOG SYNDROME.
- Published in:
- Acta Paediatrica, 1980, v. 69, n. 4, p. 567, doi. 10.1111/j.1651-2227.1980.tb07135.x
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- Publication type:
- Article
Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia).
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- Ophthalmic Genetics, 1994, v. 15, n. 1, p. 37, doi. 10.3109/13816819409056909
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- Publication type:
- Article
Prenatal ultrasound signs of Aarskog‐Scott syndrome in a twin pregnancy: A case report.
- Published in:
- International Journal of Gynecology & Obstetrics, 2024, v. 165, n. 2, p. 837, doi. 10.1002/ijgo.15351
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- Publication type:
- Article
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Association of FGD1 polymorphisms with early-onset breast cancer.
- Published in:
- Oncology Letters, 2016, v. 12, n. 3, p. 2071, doi. 10.3892/ol.2016.4911
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- Publication type:
- Article
Brief report: autism and aarskog syndrome.
- Published in:
- 1999
- By:
- Publication type:
- Journal Article
Aarskog syndrome: from prenatal features towards postnatal diagnosis.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Characterization of FGD5 Expression in Primary Breast Cancers and Lymph Node Metastases.
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- Journal of Histochemistry & Cytochemistry, 2018, v. 66, n. 11, p. 787, doi. 10.1369/0022155418792032
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- Publication type:
- Article
Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1717
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- Publication type:
- Article