Results 51 to 60 of about 183,663 (250)

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Dust-forming molecules in VY Canis Majoris (and Betelgeuse)

, 2013
The formation of inorganic dust in circumstellar environments of evolved stars is poorly understood. Spectra of molecules thought to be most important for the nucleation, i.e.
Brunken, S., Gottlieb, C. A., Kaminski, T., McCarthy, M. C., Menten, K. M., Muller, H. S. P., Patel, N. A., Schmidt, M. R., Winters, J. M., Young, K. H.   +9 more
core   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Landslide susceptibility mapping using multi-criteria evaluation techniques in Chittagong Metropolitan Area, Bangladesh [PDF]

, 2015
Landslides are a common hazard in the highly urbanized hilly areas in Chittagong Metropolitan Area (CMA), Bangladesh. The main cause of the landslides is torrential rain in short period of time.
Ahmed, B
core  

Fundamental properties and atmospheric structure of the red supergiant VY CMa based on VLTI/AMBER spectro-interferometry

, 2012
We investigate the atmospheric structure and fundamental properties of the red supergiant VY CMa. We obtained near-infrared spectro-interferometric observations of VY CMa with spectral resolutions of 35 and 1500 using the AMBER instrument at the VLTI ...
B. Arroyo-Torres, Chelli, Choi, Driebe, Ekström, Fu, Hauschildt, Herbig, Humphreys, J. M. Marcaide, Jones, Lada, Lafrasse, Lançon, Lançon, M. Wittkowski, Massey, Mauron, McCarthy, Mel’nik, Monnier, Monnier, Monnier, Muller, P. H. Hauschildt, Perrin, Perrin, Polehampton, Royer, Schlegel, Smith, Smith, Tatulli, Tsuji, van Belle, Wittkowski, Wittkowski, Wittkowski, Zhang, Ziurys   +39 more
core   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Angular CMA

, 2011
Conventional blind beamforming algorithms have no direct notion of the physical Direction of Arrival angle of an impinging signal. These blind adaptive algorithms operate by adjusting the complex steering vector in the case of changing signal conditions and directions. This paper presents Angular CMA, a blind beamforming method that calculates steering
Blom, Koen C.H., van de Burgwal, Marcel D., Rovers, Kenneth C., Kokkeler, Andre B.J., Smit, Gerard J.M.   +4 more
openaire   +1 more source