Smith–Magenis syndrome
SH Elsea, S Girirajan - European Journal of Human Genetics, 2008 - nature.com
Smith–Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by
haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11. 2 …
haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11. 2 …
Smith–Magenis Syndrome
ACM Smith, AL Gropman - Cassidy and Allanson's …, 2021 - Wiley Online Library
Smith–Magenis syndrome (SMS) is a multisystem multiple congenital anomaly/intellectual
disability disorder commonly caused by de novo interstitial deletion of chromosome 17p11 …
disability disorder commonly caused by de novo interstitial deletion of chromosome 17p11 …
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome
ML Nickerson, MB Warren, JR Toro, V Matrosova… - Cancer cell, 2002 - cell.com
Abstract Birt-Hogg-Dubé (BHD) syndrome is a rare inherited genodermatosis characterized
by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax. Recombination …
by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax. Recombination …
Mutations in RAI1 associated with Smith–Magenis syndrome
RE Slager, TL Newton, CN Vlangos, B Finucane… - Nature …, 2003 - nature.com
Smith–Magenis syndrome (SMS) is a mental retardation syndrome associated with deletions
involving chromosome 17p11. 2. Persons with SMS have characteristic behavioral …
involving chromosome 17p11. 2. Persons with SMS have characteristic behavioral …
[HTML][HTML] Genotype–phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11. 2 contribute to the clinical spectrum
S Girirajan, CN Vlangos, BB Szomju, E Edelman… - Genetics in …, 2006 - Elsevier
Abstract Purpose Smith-Magenis syndrome (SMS) is a complex disorder that includes
mental retardation, craniofacial and skeletal anomalies, and behavioral abnormalities. We …
mental retardation, craniofacial and skeletal anomalies, and behavioral abnormalities. We …
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease
N Tayebi, BK Stubblefield, JK Park, E Orvisky… - The American Journal of …, 2003 - cell.com
Gaucher disease results from an autosomal recessive deficiency of the lysosomal enzyme
glucocerebrosidase. The glucocerebrosidase gene is located in a gene-rich region of 1q21 …
glucocerebrosidase. The glucocerebrosidase gene is located in a gene-rich region of 1q21 …
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11. 2 and the syntenic region of the mouse
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation
syndrome associated with behavioral abnormalities and sleep disturbance. Most patients …
syndrome associated with behavioral abnormalities and sleep disturbance. Most patients …
Inverted rhythm of melatonin secretion in Smith–Magenis syndrome: from symptoms to treatment
H De Leersnyder - Trends in Endocrinology & Metabolism, 2006 - cell.com
Smith–Magenis syndrome (SMS) is a mental retardation syndrome with distinctive
behavioral characteristics, dysmorphic features and congenital anomalies ascribed to an …
behavioral characteristics, dysmorphic features and congenital anomalies ascribed to an …
[HTML][HTML] The pseudogenes of eukaryotic translation elongation factors (EEFs): Role in cancer and other human diseases
L Cristiano - Genes & Diseases, 2022 - Elsevier
The eukaryotic translation elongation factors (EEFs), ie EEF1A1, EEF1A2, EEF1B2, EEF1D,
EEF1G, EEF1E1 and EEF2, are coding-genes that play a central role in the elongation step …
EEF1G, EEF1E1 and EEF2, are coding-genes that play a central role in the elongation step …
New developments in Smith-Magenis syndrome (del 17p11. 2)
AL Gropman, S Elsea, WC Duncan Jr… - Current Opinion in …, 2007 - journals.lww.com
Findings from molecular cytogenetic analysis suggest that other genes or genetic
background may play a role in altering the functional availability of RAI1 for downstream …
background may play a role in altering the functional availability of RAI1 for downstream …