Results 91 to 100 of about 37,906 (184)

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

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia

Clinical Genetics, EarlyView.
Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong, Kwan Chun Ho, Zhijia Tan, Yanni He, Yapeng Zhou, Shijie Yin, Lin Feng, Janus Siu Him Wong, Michael Kai Tsun To   +8 more
wiley   +1 more source

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

Inhibition of Fibroblast Activation Protein‐α Ameliorates Intervertebral Disc Degeneration via Reduced Vascular Invasion in Cartilage Endplate

Cell Proliferation, EarlyView.
Schematic illustration showing that FAP‐α promoted angiogenesis, cytokine release and ECM degradation in the CEP degeneration of the intervertebral disc through upregulating the PI3K/Akt/HIF‐1α/VEGFA pathway. ABSTRACT Intervertebral disc degeneration (IDD) is a primary cause of low back pain, with the development of new blood vessels being a key ...
Hao‐Wei Xu, Sheng‐Jie Chang, Shuo Wang, Xiao‐Wei Liu, Shan‐Jin Wang   +4 more
wiley   +1 more source

Surgical and health outcomes of non‐ambulatory children with cerebral palsy and severe scoliosis: A population‐based, longitudinal study

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To evaluate medium‐term surgical outcomes, complications, mortality, and health‐related quality of life (HRQoL) in non‐ambulatory children with cerebral palsy (CP) and severe scoliosis, and to analyse outcomes and mortality rates in children who had not undergone surgery.
Svend Vinje, Terje Terjesen, Joachim Horn, Sandra Julsen Hollung, Thomas Kibsgård   +4 more
wiley   +1 more source

Review of the southern African slender stonebashers, genus Heteromormyrus Steindachner 1866 (Teleostei: Mormyridae), with description of six new species

Journal of Fish Biology, EarlyView.
Abstract Recent molecular studies have advanced our knowledge of the taxonomic diversity and generic placement of the slender stonebashers, previously placed in the genus Hippopotamyrus, in southern Africa. These fishes were recently transferred to the genus Heteromormyrus whose range encompasses the Kwanza, Kunene, Okavango, Zambezi, Pungwe and Buzi ...
Tadiwa I. Mutizwa, Wilbert T. Kadye, Pedro H. N. Bragança, Albert Chakona   +3 more
wiley   +1 more source

Repeated adjacent segment diseases and fractures in osteoporotic patients: a case report

Therapeutics and Clinical Risk Management, 2016
Hsin-Yao Chen,1 Chiu-Liang Chen,1,2 Wei-Liang Chen3 1Department of Orthopedic Surgery, Changhua Christian Hospital, Changhua City, 2Liberal Arts Center of Da Yeh University, Dacun Township, Changhua County, Taiwan; 3Department of Clinical Image ...
Chen HY, Chen CL, Chen WL
doaj  

Lentipes ptasan, a new species of sicydiine goby (Teleostei: Gobioidei) from the Western Pacific, with a redescription of L. mindanaoensis

Journal of Fish Biology, EarlyView.
Abstract Lentipes ptasan sp. nov. is described based on specimens collected from Taiwan and Mindanao Island. It is a large‐sized Lentipes species distinguished by several male‐specific characteristics, including an upper lip protruding beyond snout obviously, fewer premaxillary tricuspid teeth, two black lines running from the front of the eye through ...
Wei‐Cheng Jhuang, Cleto L. Nañola Jr., Xiao Fei Li, Te‐Yu Liao   +3 more
wiley   +1 more source

Anatomy of spinal CSF loss in the American alligator (Alligator mississippiensis)

Journal of Anatomy, Volume 246, Issue 4, Page 575-584, April 2025.
India ink introduced into the cranial cerebrospinal fluid (CSF) compartment of Alligator diffuses along the spinal cord and exits the spinal compartment using perineural flow, resulting in a prominent “ink cuff” forming at the base of the spinal nerve. In Alligator, the region of the ink cuff is drained by a small lymphatic vessel.
Hadyn DeLeeuw, Michael Cramberg, Matthew Dille, Emily Pick, Mary Thompson, Bruce A. Young   +5 more
wiley   +1 more source

A suture in time: The ontogeny of cranial suture morphology in mammals

Journal of Anatomy, EarlyView.
Mammal cranial sutures are important indicators of the biomechanical and developmental pressures acting upon the skull. Across three prominent sutures dividing the vault of the mammalian skull, divergent patterns emerge both taxonomically and developmentally.
Heather E. White, Marco Camaiti, Abigail S. Tucker, Akinobu Watanabe, Anjali Goswami   +4 more
wiley   +1 more source