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[PDF] Top 20 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

Has 10000 "Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours" found on our website. Below are the top 20 most common "Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours".

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

... trio-based, exome se- quencing analysis (discovery cohort), while 28 other ROHHAD patients were included in the secondary ex- ome and Sanger sequencing analysis (replication ...crest tumours from ... See full document

13

Rapid onset obesity and ondine’s curse: a deadly syndrome

Rapid onset obesity and ondine’s curse: a deadly syndrome

... by rapid-onset-obesity, hypoventilation, hypothalamic dysregulation, autonomic dysfunction and neural ...her hypoventilation progressed requiring ...Whole ... See full document

5

Monozygotic Twins Discordant for ROHHAD Phenotype

Monozygotic Twins Discordant for ROHHAD Phenotype

... Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) falls within a group of pediat- ric disorders with both ... See full document

7

Twinship as a Resource: Zygosity- and Gender-Based Comparison of Twins’ Attitudes Toward Twinship

Twinship as a Resource: Zygosity- and Gender-Based Comparison of Twins’ Attitudes Toward Twinship

... between twins, we might expect a positive effect ...the twins is concerned? The proposition that adult twins play important roles in each other’s lives is confirmed by numerous analyses (M´etneki et ... See full document

7

Handedness and the corpus callosum: A review and further analysis of discordant twins

Handedness and the corpus callosum: A review and further analysis of discordant twins

... “What does it mean to be left handed?” The answer to this enduring question requires consideration of diverse factors and multiple neurocognitive systems within developmental gradients. There is neither a unique ... See full document

37

Proceedings of the fourth international conference on central hypoventilation

Proceedings of the fourth international conference on central hypoventilation

... ventricular dysfunction or with very slow ventricular rate (<50/beats per minute or pauses >3 times the basic cycle ...LV dysfunction is present or if the site of block is below the AV node (wide QRS ... See full document

24

Guideline of transthyretin-related hereditary amyloidosis for clinicians

Guideline of transthyretin-related hereditary amyloidosis for clinicians

... Neurologic examination should indicate the presence or absence of a length-dependent sensorimotor axonal neuropathy affecting temperature and pain detection in the feet. Ultimately a patient should undergo a complete ... See full document

18

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

... Since January 2015 we had 15 patients diagnosed with childhood onset lupus (age range 2–18 years) in our in- stitution. Four patients were eventually diagnosed with monogenic lupus in the subset of six patients we ... See full document

11

Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish

Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish

... on the homozygosity interval (Fig. 1C,D). Using a cut-off of >5× coverage to minimize the analysis of sequencing artifacts, we generated a list of candidate mutations. Using the ‘Find SNPs’ function of the ... See full document

7

Monozygotic twins with polypoidal choroidal vasuculopathy

Monozygotic twins with polypoidal choroidal vasuculopathy

... of monozygotic twin sisters who were referred to the Retina Unit of Iwate Medical University ...were monozygotic twins, they had grown up in different families in different cities since birth, due to ... See full document

8

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia

... the exome or of single genes is similar to fi ndings from a much larger exome-sequencing study (which did not look at recessive inheritance), 2 analyses of recessive genotypes in the same ... See full document

7

Monozygotic Twins with 17q21.31 Microdeletion Syndrome

Monozygotic Twins with 17q21.31 Microdeletion Syndrome

... both twins and the parents was extracted from blood lymphocytes us- ing the Gentra Puregen Blood Kit (Qiagen, Hilden, Ger- many) according to the manufacturer’s ...the twins and to test for its presence in ... See full document

6

Epigenetics of discordant monozygotic twins: implications for disease

Epigenetics of discordant monozygotic twins: implications for disease

... MZ twins [73,75] have provided interesting ...MZ twins led to the identification of DOK7 hypermethylation as a blood- based epigenetic biomarker that can be traced years before tumor diagnosis ... See full document

16

Social Comparison Orientation in Monozygotic and Dizygotic Twins

Social Comparison Orientation in Monozygotic and Dizygotic Twins

... MZ twins due to the very close relationship with their co-twin conceived as a social comparison ...MZ twins, there are therefore good reasons to believe that MZ twins may also engage in vertical ... See full document

8

Obesity Is an Important Determinant of Baseline Serum C-Reactive Protein Concentration in Monozygotic Twins, Independent of Genetic Influences

Obesity Is an Important Determinant of Baseline Serum C-Reactive Protein Concentration in Monozygotic Twins, Independent of Genetic Influences

... MZ twins are genetically identical, any differences between same-pair MZ twins must be attributable to environmental factors for which the twin pair is ...female twins, we (1) examined relationships ... See full document

7

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

... used exome sequencing to diagnose α-methylacyl- coA racemase deficiency in two adult siblings with a complex autosomal recessive, adult-onset neurological syndrome, comprising peripheral neuropathy, ... See full document

10

Exome and transcriptome sequencing identifies loss of &lt;em&gt;PDLIM2&lt;/em&gt; in metastatic colorectal cancers

Exome and transcriptome sequencing identifies loss of <em>PDLIM2</em> in metastatic colorectal cancers

... We carried out WES and RNA-seq on five pairs of blood samples together with primary and matched mCRC tumor samples (Table S1 and Figure 1). After WES, we obtained a total of 1.0 billion paired-end reads from 15 samples ... See full document

9

Research with twins: The concept of emergenesis.

Research with twins: The concept of emergenesis.

... MZ twins reared apart have produced a long list of curious similarities which make me think along the same ...MZA twins discovered, at their reunion last year, that they were both in the habit of wearing ... See full document

13

Biological clocks and physical functioning in monozygotic female twins

Biological clocks and physical functioning in monozygotic female twins

... SAWEs twins were recruited for laboratory visit based on discordance for long term hormone replacement ther- apy (HRT), while FITSA participants participated on laboratory visit within study investigating the role ... See full document

7

Heritability of Hwabyung Symptoms in South Korean Adolescent and Young Adult Twins

Heritability of Hwabyung Symptoms in South Korean Adolescent and Young Adult Twins

... adult twins in South Korea. The sample included 1,601 twins consisting of 143 pairs of monozygotic male (MZM), 67 pairs of dizygotic male (DZM), 295 pairs of monozygotic female (MZF), 114 ... See full document

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