Results 251 to 260 of about 230,451 (347)

Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

Clinical Genetics, EarlyView.
We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti, Sara Terreri, Andrea Del Fattore, Francesca Romana Lepri, Rosario Ruta, Maria Iascone, Laura Pezzoli, Maria Lisa Dentici, Antonio Novelli, Michelina Armando, Daniela Longo, Giuseppe Novelli, Domenico Barbuti, Andrea Bartuli, Ugo Cavallari, Ludovico Graziani, Maria Cristina Digilio, Lorenzo Sinibaldi   +17 more
wiley   +1 more source

Children with idiopathic short stature and growth hormone deficiency exhibit similar changes in gut microbiota. [PDF]

Endocr J
Han J, Huang C, Meng L, Wu H, Meng D.
europepmc   +1 more source

Adolescent Nonfunctioning Pituitary Adenoma with Short Stature

, 1998
Tetsuro Tamura, Kenji Hasegawa, HIDEKOKO OKAZAKI, Ken Morii, Ryuichi Tanaka   +4 more
openalex   +2 more sources

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, Clémence Vanlerberghe, Anne Dieux, Laura Feyereisen, Florence Jobic, Laurence Lode, Gwenael Le Guyader, Florence Petit, Elise Schaefer, Khaoula Zaafrane‐Khachnaoui, Alban Ziegler, Olivier Patat   +13 more
wiley   +1 more source

24-Week jumping exercise influence on growth speed and GH-IGF-1-IGFBP-3 axis among short-stature children. [PDF]

BMC Pediatr
Wang H, Wang X, Wang X, Xin X, Zhang H, Jia S, Wang W.   +6 more
europepmc   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, EarlyView.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

Research on the height of primary school students in Zhuzhou and analysis of influencing factors of short stature. [PDF]

Front Pediatr
Ye XM, Tang Q, Yang YC, Wen XL.
europepmc   +1 more source

A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly

Clinical Genetics, EarlyView.
Summary of clinical and molecular findings in patients with biallelic variants in PDCD6IP.
Alfonso Manuel D'Alessio, Annalaura Torella, Manuela Morleo, Vincenzo Nigro, TUDP Study Group, Nicola Brunetti‐Pierri   +5 more
wiley   +1 more source

Identification and functional analysis of NPR2 truncating mutations in two Chinese families with short stature. [PDF]

BMC Pediatr
Wei S, Li R, He D, Zhang C, Zhang M, Li Y, Chen S, Liu F, Ban B, Zhao Q.   +9 more
europepmc   +1 more source

Risk factors in the occurence of short stature of preschool children [PDF]

, 1999
Guimarães Lv, Latorre, Barros Mb
openalex