Results 211 to 220 of about 84,871 (291)

Untangling nutrient co‐regulation of ombrotrophic peatland development

Boreas, EarlyView.
Multi‐method (FTIR, FT‐NIR and TGA) approaches characterizing the organic peat constituents at Holcroft Moss reveal a record of switches that reflect broadly hydroclimate variability governing the decomposition patterns. There are periods, however, where hydroclimate does not fully explain the variability observed and instead changes appear linked to ...
Richard C. Chiverrell, Daniel N. Schillereff, Fiona E. Russell, Julie Valentine, Jason R. Kirby, David M. Wilkinson, John F. Boyle   +6 more
wiley   +1 more source

Multilevel congenital lumbar facet joint aplasia presenting with L5-S1 spondylolisthesis in a patient with connective tissue disease. [PDF]

Surg Neurol Int
Lam VH, Lozano CS, Kassay AD, He Y, Ginsberg HJ.   +4 more
europepmc   +1 more source

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype

Clinical Genetics, EarlyView.
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç, Linda C. Zuurbier, Merel C. van Maarle, Peter Lauffer, Jonathan I. M. L. Verbeke, Caroline J. Bax, Minke van Tuyl, Ron Hochstenbach, Eva Pajkrt   +8 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source

A certain set of signs that could be compatible with Kabuki syndrome: a case report of an Iranian girl and review of literature. [PDF]

J Med Case Rep
Owlia F, Irannezhad M, Bahrololoomi Z, Mosallaeipour S.   +3 more
europepmc   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype. [PDF]

Med Sci (Basel)
Gaudioso F, Pascolini G.
europepmc   +1 more source

How Do Dental Professionals and Students Assess Orthodontic Case Complexity?

European Journal of Dental Education, EarlyView.
ABSTRACT Background Accurately diagnosing and assessing orthodontic case complexity is essential for treatment planning, estimating therapy duration, and determining required expertise. Various indices, such as the American Board of Orthodontics Discrepancy Index (ABO DI), provide objective evaluations.
Giulia Semerari, Antonino Peluso, Anthony Carlino, Francesco Moscagiuri, Michele D'Attilio   +4 more
wiley   +1 more source