Results 101 to 110 of about 255,645 (319)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman +15 more
wiley +1 more source
Cleidocranialis dysplasia fogászati vonatkozásai
, 2020 Diplomamunkámban célom volt egy olyan irodalmi összefoglalást készíteni, mely tartalmazza a cleidocranialis dysplasiaval kapcsolatos legfontosabb ismereteket, tüneteket, kezelésre irányuló információkat.
Gyura, Katalin
core
Bilateral post-traumatic acetabular dysplasia
, 2006 Traumatic disruption of the acetabular triradiate cartilage is an infrequent injury. When it occurs in early childhood, it may lead to growth changes in acetabular morphology.
Slongo, T +7 more
core +1 more source
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 +10 more
wiley +1 more source
Geleophysic dysplasia: Report on two sibs
, 1998 The authors describe two additional cases of Geleophysic dysplasia in siblings, which is a rare autosomal recessive disorder of glycoprotein metabolism whose basic defects remain to be determined.Os autores descrevem dois novos casos de displasia ...
Boy, Raquel +11 more
core +1 more source
Orthodontic Care of Cleidocranial Dysplasia Patients [PDF]
, 2015 Cleidocranial dysplasia (CCD) is a rare congenital deformity inherited as an autosomal genetic trait with the prevalence of 1:1,000,000. It is characterized by dental defomities such as retained primary teeth, presence of supernumerary teeth, skeletal ...
Rahime Burcu Nur +2 more
core +1 more source
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 +10 more
wiley +1 more source
Diagnostics of evolution of risk collapse complications at student group with anomalous cardiovascular reaction [PDF]
Саратовский научно-медицинский журнал, 2010 The description of investigation of predisposition to potential danger of collapse complications at 429 first-year students during physical training is presented using the analysis of pulse wave form.
Usanov D.A. +8 more
doaj
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
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 +11 more
wiley +1 more source