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PLoS ONE, ISSN 1932-6203, 12/2015, Volume 10, Issue 12, p. e0146089
.... Lanza FC, de Moraes Santos ML, Selman JPR, Silva JC, Marcolin N, Santos J, et al. (2015) Reference Equation for Respiratory Pressures in Pediatric Population... 
Pediatrics | Population studies
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2016, Volume 6, Issue 6, pp. 297 - 303
Duplications of the long arm of chromosome 1 are rare. Distal duplications are the most common and have been reported as either pure trisomy or unbalanced... 
Novel Insights from Clinical Practice | FISH | Duplication 1q41q43 | Duplication 1q42.13 | Array CGH | Distal partial duplication 1q
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 01/2018, Volume 61, Issue 1, pp. 29 - 33
The TBL1XR1 gene product is a nuclear protein ubiquitously produced. The protein is a component of SMRT/N-CoR co-repressor complexes and participates in the... 
Brain malformation | Microdeletion 3q26.32 | Intellectual disability | Cardiac malformation | Dysmorphisms | TBL1XR1 deletion | TBL1-TBLR1 | ACTIVATION | GENETICS & HEREDITY | DEVELOPMENTAL DELAY | PIERPONT-SYNDROME | PLANTAR LIPOMATOSIS
Journal Article
BMC Cancer, ISSN 1471-2407, 02/2014, Volume 14, Issue 1, pp. 127 - 127
Journal Article
Arquivos de gastroenterologia, ISSN 0004-2803, 2010, Volume 47, Issue 3, pp. 246 - 249
CONTEXT: Several studies have demonstrated a higher prevalence of celiac disease (CD) among females with Turner syndrome when compared to the general... 
Autoimmunity | Antibodies | Celiac disease | Triage | Turner syndrome | Prevalence | Cross-Sectional Studies | Humans | Middle Aged | Child, Preschool | Infant | Celiac Disease - diagnosis | Young Adult | Biopsy | Adolescent | Celiac Disease - complications | Turner Syndrome - complications | Adult | Female | Celiac Disease - epidemiology | Child | Brazil - epidemiology
Journal Article
Cytogenetic and Genome Research, ISSN 1424-8581, 06/2016, Volume 148, Issue 2-3, pp. 83 - 155
Journal Article
Journal Article
ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, ISSN 0004-2730, 11/2012, Volume 56, Issue 8, pp. 564 - 569
Genetic defects resulting in deficiency of thyroid hormone synthesis can be found in about 10% of the patients with permanent congenital hypothyroidism, but... 
ETIOLOGY | GENE | NEWBORN | CONGENITAL HYPOTHYROIDISM | ENDOCRINOLOGY & METABOLISM | DUPLICATION | MUTATIONS | SCREENING-PROGRAM | Phenotype | Humans | Congenital Hypothyroidism - genetics | Male | Child | Karyotype | Intellectual Disability - genetics | Translocation, Genetic - genetics
Journal Article
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2016, Volume 6, Issue 6, pp. I - VI
Journal Article
Arquivos Brasileiros de Endocrinologia & Metabologia, ISSN 1677-9487, 11/2012, Volume 56, Issue 8, pp. 564 - 569
Genetic defects resulting in deficiency of thyroid hormone synthesis can be found in about 10% of the patients with permanent congenital hypothyroidism, but... 
ENDOCRINOLOGY & METABOLISM
Journal Article
Arquivos de Gastroenterologia, ISSN 1678-4219, 09/2010, Volume 47, Issue 3, pp. 246 - 249
CONTEXT: Several studies have demonstrated a higher prevalence of celiac disease (CD) among females with Turner syndrome when compared to the general... 
GASTROENTEROLOGY & HEPATOLOGY
Journal Article
Arquivos Brasileiros de Endocrinologia e Metabologia, ISSN 0004-2730, 11/2012, Volume 56, Issue 8, pp. 564 - 569
Journal Article
Arquivos de gastroenterologia, ISSN 0004-2803, 09/2010, Volume 47, Issue 3, pp. 246 - 249
CONTEXT: Several studies have demonstrated a higher prevalence of celiac disease (CD) among females with Turner syndrome when compared to the general... 
Triagem | Autoimmunity | Celiac disease | Doença celíaca | Anticorpos | Síndrome de Turner | Antibodies | Triage | Turner syndrome | Autoimunidade
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2014, Volume 9, Issue 9, p. e101873
Highly polymorphic markers such as simple sequence repeats (SSRs) or microsatellites are very useful for genetic mapping. In this study novel SSRs were...