Delineating the phenotype of 1p36 deletion in adolescents and adults
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Title
Delineating the phenotype of 1p36 deletion in adolescents and adults
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 10, Pages 2496-2503
Publisher
Wiley
Online
2014-07-09
DOI
10.1002/ajmg.a.36657
References
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Note: Only part of the references are listed.- Dying at 23 with 1p36 deletion syndrome: Laura's family story
- (2015) P. A. Tandy INTERNAL MEDICINE JOURNAL
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- Multiple causes of apnea in 1p36 deletion syndrome include seizures
- (2012) Gorande Kanabar et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome
- (2011) Gustavo H. Vieira et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Minimal genotype-phenotype correlation for small deletions within distal 1p36
- (2011) A. Buck et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions
- (2010) Jill A. Rosenfeld et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
- (2010) Yoshiaki Saito et al. BRAIN & DEVELOPMENT
- Severe lysosomal storage disease of liver in del(1)(p36): A new presentation
- (2010) Motti Haimi et al. European Journal of Medical Genetics
- Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly
- (2009) Harvinder S. Dod et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia
- (2009) Carla S. D'Angelo et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy
- (2009) Anne-Claire Bursztejn et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Young–Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?
- (2008) Deanne Mraz Robinson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A new case of proximal monosomy 1p36, extending the phenotype
- (2008) Sabine Rudnik-Schöneborn et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation
- (2008) A. Battaglia et al. PEDIATRICS
- Spectrum of epilepsy in terminal 1p36 deletion syndrome
- (2007) Nadia Bahi-Buisson et al. EPILEPSIA
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