Results 151 to 160 of about 569,920 (414)
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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
Primary diffuse large b-cell lymphoma of the lip: a case report and literature review
Frontiers in OncologyBackgroundPrimary diffuse large B-cell lymphoma (DLBCL) of the lip is a rare subtype of extranodal non-Hodgkin lymphoma that presents a diagnostic challenge due to its infrequent location and nonspecific clinical symptoms.
Pingping Liu +5 more
doaj +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Effects on surface and peripheral zone during single lip deep hole drilling
, 2020 Robert Wegert +3 more
openalex +1 more source
Repair of Unilateral Cleft Lip using Mulliken’s Modification of Rotation Advancement [PDF]
, 2012 Unilateral cleft lip is not a simple and independent problem in all aspects. nasal deformity results from the cleft lip, maxillary hypoplasia, and abnormal muscular pull on the nasal structures, including abnormal muscular tension on the alar base and ...
정영수, 정휘동
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Changes in lips, cheeks and tongue pressures after upper incisor protrusion in Class II division 2 malocclusion: a prospective study [PDF]
, 2017 Irmak Partal, Müge Aksu
openalex +1 more source
Treatment strategy for AFP-L3 producing HCC using Fuc-Lip-sorafenib.
, 2016 The activation of p53 via its acetylation by HDACi, evokes FUT8 expression. Up-regulated FUT8 induces L-fucose uptake by AFP-L3 producing HCC cells through the L-fucose receptor or transporter.
Hajime Nakamura (3428984) +12 more
core +1 more source