Results 141 to 150 of about 115,094 (235)

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

Congenital neurodevelopmental anomalies in pediatric and young adult cancer [PDF]

, 2017
Agha, Altmann, Bailey, Baptiste, Birch, Birch, Bjorge, Bjorge, Botto, Bueno, Bursen, Carozza, Chmielecki, Ciofi, Dawson, DeBaun, Durmaz, Fisher, Gold, Good, Greenough, Hall, Harris, Hoyert, Janitz, Johnson, Johnson, Jones, Knapke, Korf, Mallol-Mesnard, Mathews, Matsumoto, McCarthy, Mili, Mili, Miller, Montes, Moore, Narod, Nishi, Partap, Rankin, Riccardi, Rice, Rios, Rosano, Samuelsen, Schmidt, Shu, Steliarova-Foucher, Sun, Sun, Sun, Vogelstein, Wilson, Windham, Witelson, Yoon, Zhang   +59 more
core   +2 more sources

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

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Machine Learning Accelerates Crystallization for Structure Determination

Angewandte Chemie, EarlyView.
Single‐crystal x‐ray diffraction (SCXRD) is often constrained by the difficulty of obtaining suitable crystals. Here, a machine learning‐accelerated co‐crystal discovery workflow is established for a crystalline mate strategy that achieves over 95% prediction accuracy and experimentally delivers 114 co‐crystals from 120 candidates.
Cui‐Zhou Luan, Xue‐Zhi Wang, Jian‐Guo Song, Yu Gu, Jing Wu, Ye‐Ting Wang, Jin‐Feng Liang, Jia‐Le Rao, Mo Xie, Jonathan R. Nitschke, Dan Li   +10 more
wiley   +2 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Altered Nasal Microbiota in Sinonasal Tumors: A Comparative Analysis of Malignant and Benign Sinonasal Tumors

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Although shifts in nasal microbiota have been well‐documented in inflammatory upper airway conditions, microbiota tumor‐associated alterations remain uncharacterized. This study is the first to compare sinonasal microbiota profiles of patients with malignant tumors (MT), benign tumors (BT), and controls, offering insights into tumor‐
Evan A. Patel, Phillip A. Engen, Glen D. Souza, Sarah Khalife, Donyea Moore, Lauren Kret, Pedro Escobedo, Stefan J. Green, Ankur Naqib, Peter Filip, Peter Papagiannopoulos, Bobby A. Tajudeen, Mahboobeh Mahdavinia, Pete S. Batra   +13 more
wiley   +1 more source

Distinct Prescription Patterns Emerge Years Before ALS Diagnosis: A Nationwide Registry‐Based Study

Annals of Neurology, EarlyView.
Objective The prodromal phase of amyotrophic lateral sclerosis (ALS) is poorly defined. We aimed to characterize prescription drug use patterns in the pre‐diagnostic period by analyzing nationwide prescription data to identify the earliest divergence between individuals who developed ALS and matched healthy controls.
Magne Haugland Solheim, Trond Riise, Marianna Cortese, Ola Nakken, Ole‐Bjørn Tysnes, Jannicke Igland, Kjetil Bjornevik   +6 more
wiley   +1 more source

Relapses, Comorbidities, and Predictors of Outcome in Anti‐GABAA Receptor Encephalitis

Annals of Neurology, EarlyView.
Objectives To characterize the magnetic resonance imaging (MRI) lesion dynamics, comorbidities, predictors of relapse, and outcomes in anti‐γ‐aminobutyric acid type A receptor (GABAAR) encephalitis, and assess the utility of LIM‐domain‐only‐protein 5 (LMO5) antibodies as tumor markers.
Claudia Papi, Chiara Milano, Laura Marmolejo, Ana Beatriz Serafim, Esther Aguilar, Mar Guasp, Elianet Fonseca, Mateus Mistieri Simabukuro, Raffaele Iorio, Yuki Fukami, Maria Lucia Schmitz Ferreira Santos, Takashi Miwa, Takashi Araga, Yuto Uchida, Masanori Kurihara, Satoshi Okada, Luz Victoria Garcia, Kenichi Kaida, Natalia Spinola Costa da Cunha, Alberto Vogrig, Florian Lamblin, Juna M. de Vries, Livia Almeida Dutra, Romana Höftberger, Maarten J. Titulaer, Jesús Planagumà, Lidia Sabater, Eugenia Martinez‐Hernandez, Thais Armangué, Francesc Graus, Takahiro Iizuka, Josep Dalmau, Marianna Spatola, Anti‐GABAAR encephalitis study group   +33 more
wiley   +1 more source

Factors of hospitalization expenditure of the genitourinary system diseases in the aged based on "System of Health Account 2011" and neural network model. [PDF]

J Glob Health, 2018
He J, Yin Z, Duan W, Wang Y, Wang X.
europepmc   +1 more source