Thyroid development and its disorders: genetics and molecular mechanisms

M De Felice, R Di Lauro - Endocrine reviews, 2004 - academic.oup.com
Thyroid gland organogenesis results in an organ the shape, size, and position of which are
largely conserved among adult individuals of the same species, thus suggesting that genetic …

Human FOX gene family

M Katoh, M Katoh - International journal of oncology, 2004 - spandidos-publications.com
Human Forkhead-box (FOX) gene family consists of at least 43 members, including FOXA1,
FOXA2, FOXA3, FOXB1, FOXC1, FOXC2, FOXD1, FOXD2, FOXD3, FOXD4, FOXD5 …

Non-syndromic cleft palate: an overview on human genetic and environmental risk factors

M Martinelli, A Palmieri, F Carinci… - Frontiers in cell and …, 2020 - frontiersin.org
The epithelial and mesenchymal cells involved in early embryonic facial development are
guided by complex regulatory mechanisms. Any factor perturbing the growth, approach and …

Genetics of nonsyndromic orofacial clefts

F Rahimov, A Jugessur… - The Cleft palate …, 2012 - journals.sagepub.com
With an average worldwide prevalence of approximately 1.2/1000 live births, orofacial clefts
are the most common craniofacial birth defects in humans. Like other complex disorders …

Genetics of congenital hypothyroidism

SM Park, VKK Chatterjee - Journal of medical genetics, 2005 - jmg.bmj.com
Congenital hypothyroidism is the most common neonatal metabolic disorder and results in
severe neurodevelopmental impairment and infertility if untreated. Congenital …

The genetics of isolated orofacial clefts: from genotypes to subphenotypes

A Jugessur, PG Farlie, N Kilpatrick - Oral diseases, 2009 - Wiley Online Library
Orofacial clefts are the most common craniofacial birth defects and one of the most common
congenital malformations in humans. They require complex multidisciplinary treatment and …

[HTML][HTML] Werner and Ingbar's the thyroid: a fundamental and clinical text

P Kopp, DS Cooper, LE Braverman - 2005 - doctorlib.info
Thyroid hormone biosynthesis, storage, and secretion require a series of highly regulated
steps. Iodide, the rate-limiting substrate for thyroid hormone synthesis, is actively transported …

[HTML][HTML] Diagnostic utility of thyroid transcription factors Pax8 and TTF-2 (FoxE1) in thyroid epithelial neoplasms

D Nonaka, Y Tang, L Chiriboga, M Rivera, R Ghossein - Modern Pathology, 2008 - Elsevier
Thyroid-specific transcription factors, Pax8, TTF-1, and TTF-2, are crucial for thyroid
organogenesis and differentiation. Compared with TTF-1, the other two markers have …

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate

AR Vieira, JR Avila, S Daack-Hirsch, E Dragan… - PLoS …, 2005 - journals.plos.org
Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide
geographic distribution with an average birth prevalence of 1/700. We used direct …

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35

ML Marazita, JC Murray, AC Lidral… - The American Journal of …, 2004 - cell.com
Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect
with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P …