Results 51 to 60 of about 29,360 (257)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

A Novel 3D Imaging Method for Airborne Downward-Looking Sparse Array SAR Based on Special Squint Model

International Journal of Antennas and Propagation, 2014
Three-dimensional (3D) imaging technology based on antenna array is one of the most important 3D synthetic aperture radar (SAR) high resolution imaging modes. In this paper, a novel 3D imaging method is proposed for airborne down-looking sparse array SAR
Xiaozhen Ren, Yao Qin, Lihong Qiao
doaj   +1 more source

Ground Positioning Method of Spaceborne SAR High-Resolution Sliding-Spot Mode Based on Antenna Pointing Vector

Remote Sensing, 2022
As a new high-resolution spaceborne SAR observation mode, sliding-spot imaging has the characteristics of a large squint, long aperture time, and azimuth aliasing, and because of the dechirp operation in the imaging algorithm of this mode, it is ...
Yingying Li, Hao Wu, Dadi Meng, Gemengyue Gao, Cuiping Lian, Xueying Wang   +5 more
doaj   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Extraocular Muscle Transplantation Surgery for Primary Treatment of Extra Large-angle Squint

Journal of Ophthalmic & Vision Research
Purpose: Large-angle horizontal ocular deviations will commonly require bilateral surgery to correct the primary ocular deviation. However, considering the need for full correction with one surgical procedure and patients' reluctance to be operated on ...
Adedayo O. Adio, Chinyelu N. Ezisi, Elizabeth D. Nkanga   +2 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

On Measuring Accurate 21-cm Line Profiles with the Robert C. Byrd Green Bank Telescope

, 2009
We use observational data to show that 21 cm line profiles measured with the Green Bank Telescope (GBT) are subject to significant inaccuracy. These include ~10% errors in the calibrated gain and significant contribution from distant sidelobes.
Heiles, Carl, Robishaw, Timothy
core   +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

Glioblastoma multiforme misdiagnosed as squint: A case report

Journal of Family Medicine and Primary Care, 2020
Glioblastoma multiforme (GBM) is a high-grade tumor of the brain that arises from the supporting cells of neurons (astrocytes and oligodendrocytes) within the brain.
Fahad Khan, Saad Khan, Sarwat Masud, Nazish Masud   +3 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source