Results 231 to 240 of about 633,963 (350)

Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe, Jessica Connors, Angela Arra, Katherine Dunn, Kim Blake, Johan van Limbergen   +5 more
wiley   +1 more source

Inborn errors of immunity with atopic phenotypes in the allergy and immunology clinic: a practical review. [PDF]

Curr Opin Allergy Clin Immunol
Taietti I, Catamerò F, Lodi L, Giovannini M, Castagnoli R.   +4 more
europepmc   +1 more source

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina, Sonia Khirani, Lucie Griffon, Clément Poirault, Raffaella Nenna, Fabio Midulla, Brigitte Fauroux   +6 more
wiley   +1 more source

Editorial: Recent advances in understanding the genetics of immunological disorders. [PDF]

Front Genet
Lim CK, Abolhassani H, Sun J.
europepmc   +1 more source

Corrigendum: Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017–2022

Frontiers in Genetics
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi Tang, Xiaoyan He   +10 more
openaire   +2 more sources

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti, Stefano Rebellato, Antonella Lettieri, Silvia Castiglioni, Milena Mariani, Simona Totaro, Claudia Saitta, Cristina Gervasini, Grazia Fazio, Valentina Massa, Giovanni Cazzaniga, Angelo Selicorni   +11 more
wiley   +1 more source

Association between serum cystatin C and early impairment of cardiac function and structure in type 2 diabetes patients with normal renal function

Clinical Cardiology, Volume 45, Issue 12, Page 1287-1296, December 2022., 2022
Abstract Background Type 2 diabetes mellitus (T2DM) patients may have cardiac remodeling and dysfunction from the early stage of disease. This study aimed to determine the association between cystatin C (CysC) and early cardiac functional or structural impairment in T2DM patients without renal dysfunction.
Zhuoshan Huang, Junlin Zhong, Shaozhao Zhang, Zhenyu Xiong, Yiquan Huang, Menghui Liu, Yifen Lin, Xiangbin Zhong, Xiaomin Ye, Xiaodong Zhuang, Xinxue Liao   +10 more
wiley   +1 more source

Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case. [PDF]

Case Reports Immunol
Musabak U, Erdogan T, Akcay MS, Ceylaner S.   +3 more
europepmc   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt, Chantal Janelle, Valancy Miranda, Ghalib Bardai, Frank Rauch   +4 more
wiley   +1 more source

Predicting progression of aortic stenosis by measuring serum calcification propensity

Clinical Cardiology, Volume 45, Issue 12, Page 1297-1302, December 2022., 2022
Abstract Background The aim of this prospective, double‐blinded study in patients with aortic sclerosis was to determine whether a new calcification propensity measure in the serum could predict disease progression. Methods We included 129 consecutive patients with aortic sclerosis as assessed during a routine clinical echocardiographic exam. Clinical,
Reto Kurmann, Eric Buffle, Andreas Pasch, Christian Seiler, Stefano F. de Marchi   +4 more
wiley   +1 more source