Results 121 to 130 of about 794,449 (295)

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia. [PDF]

Hum Genet, 2023
Zagnoli-Vieira G, Brazina J, Van Den Bogaert K, Huybrechts W, Molenaers G, Caldecott KW, Van Esch H.   +6 more
europepmc   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Intraspinal abnormalities in MRI-evaluated congenital scoliosis: a systematic review and meta-analysis of prevalence, geographic variation, vertebral anomaly patterns, and Cobb angle

North American Spine Society Journal
: Background: Intraspinal abnormalities are common in congenital scoliosis, yet estimates and associations with vertebral anomaly patterns and curve severity remain inconsistent.
Nizar Algarni, MBBS, Khalid Alrasheed, MBBS, Faisal Alkhunein, MBBS, Mohammed Alorayyidh, MBBS, Rahaf Alrasheed, MBBS, Yousef Marwan, BMedSc, BMBCh, FRCSC   +5 more
doaj   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Improving the quality of life of parents of patients with congenital abnormalities using psychoeducational interventions: a systematic review. [PDF]

Qual Life Res, 2023
Rodrigues MG, Rodrigues JD, Soares MM, Azevedo LF, Rodrigues PP, Areias JC, Areias ME.   +6 more
europepmc   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

TRANSVAGINAL ECHOCARDIOGRAPHY FOR THE PRENATAL DETECTION OF THE CONGENITAL HEART DISEASES

Педиатрическая фармакология, 2009
The ultrasonic study in the early pregnancy may successfully be used to perform the early prenatal detection of the congenital heart diseases in fetuses with the non cardiac abnormalities and sonographic markers of the chromosome pathology.Key words ...
E.A. Shevchenko
doaj   +2 more sources

Impact of maternal hepatitis B carrier status on congenital abnormalities: a systematic review and meta-analysis. [PDF]

BMJ Open, 2023
Huang S, Wang J, Xiong Y, Liu C, Qi Y, Zou K, Tan J, Sun X.   +7 more
europepmc   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities. [PDF]

JCI Insight, 2022
Martinez ME, Pinz I, Preda M, Norton CR, Gridley T, Hernandez A.   +5 more
europepmc   +1 more source