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Šliu┼żas, Vytautas
Objective. Cleft lip with or without cleft palate (CLP) is a common congenital abnormality involving genetic and non-genetic factors in its etiology. Although many studies have been made to find the genetic pattern of this malformation, there is still no precise answer. There have been suggested several models of inheritance ...
Rapini Novella - - 2014
Interstitial deletions of the long arm of chromosome 13 (13q) are related with variable phenotypes, according to the size and the location of the deleted region. The main clinical features are moderate/severe mental and growth retardation, cranio-facial dysmorphism, variable congenital defects and increased susceptibility to tumors. Here we report a ...
Jiang Jia-Hao - - 2013
Genetic epidemiological data in hepatocellular carcinoma (HCC) pedigrees indicate a pattern of X-linked recessive inheritance of HCC susceptibility genes. This study is designed to test the hypothesis that there are genes conferring susceptibility to HCC located on the X-chromosome. An X-chromosomal association study was conducted among Chinese men recruited from ...
Desantis David A - - 2013
BACKGROUND: Because the histological and biochemical progression of liver disease is similar in alcoholic steatohepatitis (ASH) and nonalcoholic steatohepatitis (NASH), we hypothesized that the genetic susceptibility to these liver diseases would be similar. To identify potential candidate genes that regulate the development of liver fibrosis, we studied a chromosome substitution ...
Homayounfar Kia - - 2013
Previous studies suggest different pathways in the molecular development of hepatocellular carcinoma (HCC). We investigated the pattern of chromosomal imbalances in HCC depending on the type of underlying liver disease as detected by comparative genomic hybridization in 67 cases of primary HCC occurring in non-cirrhotic livers (n=30), in liver cirrhosis ...
Duncan Andrew W - - 2013
Polyploidy has been described in the liver for over 100 years. The frequency of polyploid hepatocytes varies by age and species, but up to 90% of mouse hepatocytes and approximately 50% of human hepatocytes are polyploid. In addition to alterations in the entire complement of chromosomes, variations in chromosome copy ...
Wu Chuan-Xin - - 2013
Primary hepatic actinomycosis is a rare disease, but is important in the differential diagnosis of hepatoma in endemic areas. As high mobility group box chromosomal protein 1 plays an important role in the pathogenesis of both acute and chronic inflammatory conditions, we postulate that high mobility group box chromosomal ...
Nishida Naoshi - - 2013
Global DNA hypomethylation is a characteristic feature of cancer cells that closely associates with chromosomal instability (CIN). However, the association between these characteristics during hepatocarcinogenesis remains unclear. Herein, we determined the relationship between hypomethylation and CIN in human hepatocellular carcinoma (HCC) by analyzing 179 HCCs, 178 matched non-tumor livers and ...
Zhou Hai-Tao - - 2013
At present no objective parameters to identify the risk of liver metastasis after surgery have been established in rectal cancer. To identify the chromosomal aberrations that are correlated with liver metastasis of rectal cancer. Primary tumor tissues of rectal carcinoma were analyzed by array-based comparative genomic hybridization (array-CGH). Genomic aberrations ...
Kileh-Wais M - - 2012
The mule duck, an interspecific hybrid obtained by crossing common duck (Anas Platyrhynchos) females with Muscovy (Cairina moschata) drakes, is widely used for fatty liver production. The purpose of the present study was to detect and map single and pleiotropic QTL that segregate in the common duck species, and influence ...
Iacovella C - - 2012
OBJECTIVES: Previous publications suggest that exomphalos containing the liver as less likely to be associated with aneuploidy. The objective of the study was to explore the influence of exomphalos contents and nuchal translucency (NT) on the likelihood of aneuploidy. METHODS: A retrospective search was conducted to identify all cases of ...
Lathi Ruth B - - 2011
Miscarriage is a relatively common occurrence for otherwise healthy women. Despite its frequency, evaluation for cause is rare. The most common cause of miscarriage is sporadic chromosome errors. Chromosomal analysis of the miscarriage offers an explanation in at least 50% of cases. Conventional cytogenetic evaluation can only be done on ...
Hanson Erin - - 2011
  In a previous study, a new set of Y-chromosome short tandem repeats, the OSU 10-locus set (MPM1 and MPM2), was shown to have a higher discrimination power when evaluated against the 10 SWGDAM loci on a common population panel. Here, we describe the optimization of the multiplex reactions using ...
Liehr Thomas - - 2011
Small supernumerary maker chromosomes (sSMC) and uniparental disomy (UPD) are rare, and a combination of both is rarely encountered. Accordingly, only 46 sSMC cases UPD have been reported. Despite of its rareness, UPD has to be considered, especially in prenatal cases with sSMC. Here, the authors reviewed all sSMC cases ...
Ozkara Arzu - - 2011
In this study, the effect of Afyonkarahisar Sugar Factory's discharge water on germination percentage, root growth and mitotic divisions of the root tip cells of Hordeum vulgare L. were investigated. Six concentrations of wastewater and ranging from 10(0), 10( - 1), 10( - 2), 10( - 3), 10( - 4), 10( - 5), were applied for 6, 12, 18 and ...
Timmerman E - - 2010
The aim of this study was to investigate whether there is an association between enlarged nuchal translucency (NT) and orofacial clefts. The pregnancy outcome of women who underwent an NT measurement between January 2000 and November 2008 was reviewed. All orofacial clefts detected prenatally and postnatally in karyotypically normal fetuses/infants ...
Gallego Carlos J - - 2010
Orofacial clefting is a common condition found in 1 per 700 to 1 per 1000 births. Although most cases are isolated, a subset is caused by a specific genetic mutation. Specific gene tests have been used for recognizable syndromes such as velocardiofacial syndrome or van der Woude syndrome, where the ...
Salahshourifar Iman - - 2010
We describe a chromosome 6 uniparental disomy (UPD6) in a boy, discovered during a screening for the genetic cause of cleft lip and palate. In the medical literature, almost all documented cases of UPD6 are paternal in origin, and only four were maternal. We present here a report of complete ...
Klockars Tuomas - - 2010
Abstract Objective: The aim was to identify chromosomal regions possibly involved in the development of orofacial clefts and to compare syndromic cleft phenotypes with previous reports. Design: We have retrospectively gathered and analyzed chromosomal aberrations and phenotypes of Finnish cleft patients treated at the Cleft and Craniofacial Centre, Helsinki University ...
Sing Bindya - - 2011
We report a case of de novo microdeletion of 15q24.3-q25.2 in an infant with orofacial cleft and general hypotonia and suggest that this may be a critical region in orofacial development. In addition, this case highlights the usefulness of comparative genomic microarray in the evaluation of children with congenital anomalies ...
Nikopensius Tiit - - 2010
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental factors. Recently, two novel susceptibility loci and three suggestive loci for NSCL/P were identified by a genome-wide association scan (GWAS) in a ...
Letra A - - 2010
Cleft lip/palate is a defect of craniofacial development. In previous reports, chromosome 6q has been suggested as a candidate region for cleft lip/palate. A multipoint posterior probability of linkage analysis of multiplex families from the Philippines attributed an 88% probability of harboring a cleft-susceptibility gene to a narrower region on ...
Urquhart Jill - - 2009
We report a 4.5 Mb deletion of 2q33.1 in an individual with developmental delay and cleft palate. There have been various previous reports of deletions of 2q3, all with varying breakpoints and all larger than the current case. Whilst there is some variation in the phenotypes of patients with 2q3 ...
Alsantali Adel - - 2009
PURPOSE OF REVIEW: Androgenetic alopecia (AGA) or male pattern hair loss is a very common condition that has a significant psychosocial impact for patients. Many advances in the pathogenesis and treatment of AGA have been discovered recently. We discuss the pathogenesis and treatment of AGA. RECENT FINDINGS: Wide genome analysis ...
Giehl K A - - 2009
All AKR/J mice have a subtle defect that involves malformation of the central portion of hair fibres that is best visualized under white and polarized light microscopy. This study sought to characterize the clinical and ultrastructural features of the hair interior defect (HID) phenotype and to determine the chromosomal localization ...
Linder Carie E - - 2009
This article presents a case review of a newborn diagnosed with a complex chromosomal rearrangement, as demonstrated through a painted chromosomal analysis. This infant presented with multiple dysmorphology including cutis aplasia, multiple ocular malformations, bilateral cleft lip and palate, and postnatal hydrocephaly. A chromosomal analysis revealed multiple-ways, balanced translocation involving ...
Birnbaum Stefanie - - 2009
We conducted a genome-wide association study involving 224 cases and 383 controls of Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the ...
Nugent N - - 2010
Deletion of chromosome 22q11 gives rise to a spectrum of anomalies, including cleft palate. These are grouped together as the DiGeorge or velocardiofacial syndrome. Patients with this chromosomal abnormality account for a small, but noteworthy proportion of patients attending our cleft service. They frequently have other significant comorbidities consistent with ...
Machida Junichiro - - 2009
Identification of the breakpoints of disease-associated chromosome rearrangements can provide informative clues to a positional cloning approach for genes responsible for inherited diseases. Recently, we found a three-generation Japanese family segregating balanced chromosome translocation t(9;17)(q32;q12). One of the subjects had cleft lip and palate. We examined whether regions near the ...
Hajihosseini Mohammad K MK School of Biological Sciences, University of East Anglia, Norwich, United Kingdom. - - 2009
Apert syndrome (AS) is a severe congenital disease caused by mutations in fibroblast growth factor receptor-2 (FGFR2), and characterised by craniofacial, limb, visceral, and neural abnormalities. AS-type FGFR2 molecules exert a gain-of-function effect in a ligand-dependent manner, but the causative FGFs and their relative contribution to each of the abnormalities ...
Charoenchaikorn Kesinee - - 2009
Runx1 is expressed in medial edge epithelial (MEE) cells of the palatal shelf. Conditionally rescued Runx1(-/-) mice showed limited clefting in the anterior junction between the primary and the secondary palatal shelves, but not in the junction between the secondary palates. In wild type mice, the fusing epithelial surface exhibited ...
Yu Wenli - - 2008
In palatogenesis, the MEE (Medial Edge Epithelium) cells disappear when palates fuse. We hypothesize that the MEE cells undergo EMT (Epithelial-Mesenchymal Transition) to achieve mesenchyme confluence. Twist has an important role in EMT for tumor metastasis. The purpose of this study was to analyze Twist function during palatal fusion. Twist ...
Digilio M Cristina - - 2008
The oculo-auriculo-vertebral spectrum (OAVS) is a non-random association of microtia, hemifacial microsomia with mandibular hypoplasia, ocular epibulbar dermoid, and cervical vertebral malformations. Congenital heart defects (CHDs) have been reported in 5-58% of the patients. We analyze the frequency and anatomic features of CHD in a series of 87 patients with ...
Shekar Sri N - - 2008
Genetic studies of pigmentation have benefited from spectrophotometric measures of light-dark hair color. Here we use one of those measures, absorbance at 650 nm, to look for chromosomal regions that harbor genes affecting hair pigmentation. At 7p15.1, marker D7S1808 was suggestive of linkage to light-dark hair color (LOD approximately 2.99). ...
Uzun C - - 2009
OBJECTIVE: TO evaluate potential pre-dive parameters in relation to paranasal sinus barotrauma in sports self-contained underwater breathing apparatus divers. STUDY DESIGN: The pre-dive and follow-up records of 46 healthy sports self-contained underwater breathing apparatus divers were analysed. METHODS: In the routine pre-dive examination of diving candidates with no symptoms of ...
Son Jung-Min - - 2008
Perosomus elumbis is an occasionally found congenital anomaly of unknown etiology and is characterized by partial or complete agenesis of lumbar, sacral and coccygeal vertebrae and ankylosis of the hindlimbs. A 2-day-old female Holstein calf presented nearly normal forelimbs but flexure and ankylosis of the hindlimbs. The vertebrae and pelvic ...
Gu Shuping - - 2008
Many genes are known to function in a region-specific manner in the developing secondary palate. We have previously shown that Shox2-deficient embryos die at mid-gestation stage and develop an anterior clefting phenotype. Here, we show that mice carrying a conditional inactivation of Shox2 in the palatal mesenchyme survive the embryonic ...
Garg R - - 2008
This report describes anaesthesia for consanguineous siblings with the rare genetic condition hyperekplexia. This condition is also known as 'stiff baby syndrome' or 'startle disease'. Hyperekplexia can present in major and minor forms and is caused by a mutation in chromosome 5 which results in a defect in the alpha-1 ...
Abe A - - 2008
Chromosome 15 aberrations clinically present as facial dysmorphisms such as a prominent nose, low-set ears, micrognathia and a short neck; a cleft lip and palate have not been reported. This is the first reported case of de-novo terminal deletion at 15q24 with a cleft lip and palate and low-set ears. ...
Fearon Jeffrey A - - 2008
The Tessier classification is the current standard for identifying and reporting rare craniofacial clefts. This numerically based system describes 16 different primary clefts, with additional possible combinations that can significantly raise the total number of potentially describable clefts. Problems with this system include a complexity that requires most surgeons to ...
Kimani Jane W - - 2007
Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X chromosome inactivation (XCI) in ...
Tampier Claudio - - 2007
STUDY DESIGN: Basic scientific investigation using radiologic, histochemical, and microscopic dissection techniques. OBJECTIVE: To document the process of mechanically induced disc herniation from repetitive loading exposure. SUMMARY OF BACKGROUND DATA: Current knowledge of the mechanism of disc herniation is limited to only a few postmortem studies with even fewer attempts ...
Osoegawa K - - 2008
We analysed DNA samples isolated from individuals born with cleft lip and cleft palate to identify deletions and duplications of candidate gene loci using array comparative genomic hybridisation (array-CGH). Of 83 syndromic cases analysed we identified one subject with a previously unknown 2.7 Mb deletion at 22q11.21 coinciding with the ...
Souraty Noëlle - - 2007
We report on a baby girl from non-consanguineous Palestinian parents with intrauterine growth retardation, low birth weight, and developmental delay. She had a short stature, microcephaly, a prominent metopic suture, a glabellar haemangioma, exophthalmos, hypertelorism, upslanting palpebral fissures, horizontal nystagmus, flat nose, cleft lip and palate, a short neck, widely ...
Carinci Francesco - - 2007
Nonsyndromic cleft lip and/or palate (or orofacial cleft, OFC) is a malformation characterized by an incomplete separation between nasal and oral cavities without any associated anomalies. The last point defines the distinction between syndromic and nonsyndromic OFC. Nonsyndromic OFC is one of the most common malformations among live births and ...
Robbins Clarence - - 2007
A recent publication (1), provided evidence for two types of hair breakage during combing, short segment breakage (approximately less than 1.27 cm) and longer segment breakage. We have confirmed these results and refined the separation distance between short and long segment breakage at about 2.54 cm. Furthermore, chemical bleaching increased ...
Segawa Yoshie - - 2007
We report a rare case of facial features of holoprosencephaly associated with hydranencephaly, with a de novo proximal interstitial deletion of the long arm of chromosome 14, specifically, del(14)(q13q21). She was born at 37 weeks of gestation and transferred to our institution at 3 years of age. The patient had ...
Thauvin-Robinet C - - 2007
Occipital encephalocele belongs to the family of neural tube defects, which occur in one among 2000 to 5000 live births. Syndromic encephaloceles include Meckel-Gruber syndrome and various chromosomal abnormalities. We report on a fetal case (13 WG) with bilateral cleft lip and palate, choanal atresia, occipital encephalocele, bilateral club feet, ...
Beiraghi Soraya - - 2007
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital facial defects, with an incidence of 1 in 700-1,000 live births among individuals of European descent. Several linkage and association studies of NSCL/P have suggested numerous candidate genes and genomic regions. A genomewide linkage ...
Andrieux J - - 2007
Smith-Magenis syndrome (SMS) is rare (prevalence 1 in 25 000) and is associated with psychomotor delay, a particular behavioural pattern and congenital anomalies. SMS is often due to a chromosomal deletion of <4 Mb at the 17p11.2 locus, leading to haploinsufficiency of numerous genes. Mutations of one of these gemes, ...
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