Results 211 to 220 of about 181,651 (400)

PAPSS2-Related Brachyolmia: Clinical and Radiographic Features and Growth Hormone Therapy of One Chinese Case. [PDF]

Clin Case Rep
ABSTRACT Brachyolmia type 4 (BCYM4, OMIM 612847) is a rare skeletal dysplasia characterized by mild epiphyseal and metaphyseal abnormalities. We report a Chinese boy with brachyolmia caused by a novel compound heterozygous mutation in the PAPSS2 gene.
Long W, Luo X.
europepmc   +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

Could scoliosis at the age of 7 months be a manifestation of progressive pseudorheumatoid dysplasia? A case report. [PDF]

J Med Case Rep
Janoud O, Chaer S, Shikha Y, Khalil B.
europepmc   +1 more source

On the congenital spinal scoliosis, along with aresearch on the noto-chord in the human foetus

, 1951
Shuhei Yoshimi
openalex   +2 more sources

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Mechanics of Scoliosis

, 1951
Yasusi Iwano
openalex   +2 more sources

Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN‐Related Short Stature

Clinical Genetics, EarlyView.
This study evaluated growth hormone (GH) therapy in children from an extended family with genetically confirmed ACAN‐related short stature. While GH treatment improved growth velocity, the response varied among individuals, and its long‐term impact on final adult height remains to be determined.
Einat Shalev‐Goldman, Ayman Asaly, Hadas Ityel, Ben Pode‐Shakked, Dalit Modan‐Moses, Yael Levy‐Shraga   +5 more
wiley   +1 more source

Bracing for scoliosis in children with cerebral palsy-a systematic review. [PDF]

J Child Orthop
Merkelbach N, Pauw A, Van Campenhout A.
europepmc   +1 more source

Piezo2 in Mechanosensory Biology: From Physiological Homeostasis to Disease‐Promoting Mechanisms

Cell Proliferation, EarlyView.
Piezo2 channels are essential mechanotransducers regulating touch, proprioception and visceral mechanosensation across physiological systems, emerging as therapeutic targets for pathological mechanical hypersensitivity and neurogenic disorders. ABSTRACT Piezo2, a mechanically activated ion channel, serves as the key molecular transducer for touch ...
Zhebin Cheng, Zuping Wu, Mengjie Wu, Liang Xie, Qianming Chen   +4 more
wiley   +1 more source

Correlation analysis between multifidus muscle atrophy and the severity of degenerative scoliosis retrospective, cross-sectional study. [PDF]

Sci Rep
Yu J, Zhang C, Zhou Y, Wang J, Zhang Y, Wang Y.   +5 more
europepmc   +1 more source