Results 201 to 210 of about 6,216,627 (298)

Comparative study of dental age estimation methods against known chronological age in Nigerian local horses. [PDF]

J Equine Sci
Akinniyi OO, Afolabi DO, Mshelia PW, Olakojo TA, Oyenekan IO, Adah O, Osunkoya D, Olaogun SC, Jeremiah OT, Omobowale TO.   +9 more
europepmc   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Dental Anomalies: Prevalence, Patterns of Association and Relationship With Dental Age. [PDF]

Int Dent J
Loscertales-Martín-de-Agar B, Cabezas-Corado Á, Baus-Domínguez M, Loscertales-Abril J, Torres-Lagares D.   +4 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Modified Demirjian's method for dental age estimation in Kosovar children and adolescents. [PDF]

Forensic Sci Med Pathol
Kelmendi J, Merdietio Boedi R, Vodanovic M, Shahiqi DI, Azizi B, Angelakopoulos N.   +5 more
europepmc   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Applicability and validation of Franco, Willems and Willems II dental age estimation models in a population of Ceará, Brazil. [PDF]

Sci Rep
Bezerra TP, Gonçalves RA, Brito LM, Moreira DD, Angelakopoulos N, Napimoga M, Franco A.   +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

Dental age estimation: a scoping review comparing the manual application of the Demirjian method and artificial intelligence modalities. [PDF]

Int J Legal Med
Baylis S, Dipnall JF, Bassed R.
europepmc   +1 more source