Development of the thyroid gland
M Nilsson, H Fagman - Development, 2017 - journals.biologists.com
Thyroid hormones are crucial for organismal development and homeostasis. In humans,
untreated congenital hypothyroidism due to thyroid agenesis inevitably leads to cretinism …
untreated congenital hypothyroidism due to thyroid agenesis inevitably leads to cretinism …
Microtia: epidemiology and genetics
DV Luquetti, CL Heike, AV Hing… - American Journal of …, 2012 - Wiley Online Library
Microtia is a congenital anomaly of the ear that ranges in severity from mild structural
abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as …
abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as …
[HTML][HTML] Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2
Y Zhao, JF Ransom, A Li, V Vedantham, M von Drehle… - Cell, 2007 - cell.com
MicroRNAs (miRNAs) are genomically encoded small RNAs used by organisms to regulate
the expression of proteins generated from messenger RNA transcripts. The in vivo …
the expression of proteins generated from messenger RNA transcripts. The in vivo …
Chromosome 22q11. 2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
DM McDonald-McGinn, KE Sullivan - Medicine, 2011 - journals.lww.com
Abstract Chromosome 22q11. 2 deletion syndrome is a common syndrome also known as
DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1: 4000 …
DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1: 4000 …
Clinical features of 78 adults with 22q11 deletion syndrome
AS Bassett, EWC Chow, J Husted… - American journal of …, 2005 - Wiley Online Library
Abstract 22q11 Deletion Syndrome (22q11DS) is a common microdeletion syndrome with
multisystem expression. Phenotypic features vary with age, ascertainment, and assessment …
multisystem expression. Phenotypic features vary with age, ascertainment, and assessment …
T-box genes in vertebrate development
LA Naiche, Z Harrelson, RG Kelly… - Annu. Rev …, 2005 - annualreviews.org
The myriad developmental roles served by the T-box family of transcription factor genes defy
easy categorization. Present in all metazoans, the T-box genes are involved in early …
easy categorization. Present in all metazoans, the T-box genes are involved in early …
Of mice and men: molecular genetics of congenital heart disease
TA Andersen, KLL Troelsen, LA Larsen - Cellular and molecular life …, 2014 - Springer
Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …
which may be caused by multiple genetic and environmental factors. Studies in human …
Bmp signaling regulates myocardial differentiation from cardiac progenitors through a MicroRNA-mediated mechanism
J Wang, SB Greene, M Bonilla-Claudio, Y Tao… - Developmental cell, 2010 - cell.com
MicroRNAs (miRNAs) are small, noncoding RNAs that regulate gene expression
posttranscriptionally. We investigated the hypothesis that bone morphogenetic protein (Bmp) …
posttranscriptionally. We investigated the hypothesis that bone morphogenetic protein (Bmp) …
Microduplication 22q11. 2: a new chromosomal syndrome
MF Portnoï - European journal of medical genetics, 2009 - Elsevier
The chromosome 22q11. 2 region has long been implicated in genomic diseases. The low-
copy repeats spanning the region predispose to homologous recombination events, and …
copy repeats spanning the region predispose to homologous recombination events, and …
Velo-cardio-facial syndrome
RJ Shprintzen, AM Higgins, K Antshel… - Current opinion in …, 2005 - journals.lww.com
Its high population prevalence, estimated to be as common as 1: 2000 has sparked a large
amount of research, as has the model the syndrome serves for identifying the causes of …
amount of research, as has the model the syndrome serves for identifying the causes of …