Results 51 to 60 of about 3,517 (182)

CDG due to Defective Membrane Transporters: Update

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source

El síndrome de nail-patella: presentación de 5 casos [PDF]

, 2005
Se presentan 5 casos de síndrome de nail-patella de 2 familias distintas. En todos ellos eran evidentes los rasgos clínicos característicos de la enfermedad.
Arenas Miquélez, A., Arenas Planelles, Antonio, Ortega Arruti, J.A., Pombo Manero, V., Repáraz Padrós, Jesús   +4 more
core  

Deletions of the derivative chromosome 9 occur at the time of the Philadelphia translocation and provide a powerful and independent prognostic indicator in chronic myeloid leukemia [PDF]

, 2001
Chronic myeloid leukemia (CML) is characterized by formation of the BCR-ABL fusion gene, usually as a consequence of the Philadelphia (Ph) translocation between chromosomes 9 and 22.
Bench, AJ, Campbell, LJ, Grace, C, Green, AR, Huntly, BJP, Nacheva, EP, Prince, HM, Reid, AG, Shepherd, P, Szer, J, Telford, N, Turner, P   +11 more
core   +1 more source

Open and arthroscopic deepening trochleoplasty improves post‐operative outcomes: A systematic review of the literature reveals lack of comparability between techniques

Knee Surgery, Sports Traumatology, Arthroscopy, Volume 34, Issue 1, Page 34-51, January 2026.
Abstract Purpose Deepening trochleoplasty improves outcomes in patients with trochlear dysplasia. The aim of this systematic review was to present the outcomes after open thin‐flap, open thick‐flap and arthroscopic deepening trochleoplasty. Methods A systematic review was conducted using the PRISMA guidelines.
Signe Høj, Johanne Kofoed Lundegaard, Lars Blønd, Peter Lavard, Anke Simone Rechter, Christian Dippmann, Kristoffer W. Barfod   +6 more
wiley   +1 more source

Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]

, 2015
No abstract ...
Ferguson-Smith, Malcolm
core  

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Trisomy 8 mosaicism (T8M) syndrome is a rare aneuploidy condition affecting 1/25,000–50,000 live births. Affected individuals have highly variable phenotypes from very mild dysmorphism to severe structural anomalies caused by chromosomal mosaicism and possibly undetected molecular aberrations. The utilization of chromosome microarray analysis (CMA) and
Zakia Abdelhamed, Daniel Dykas, Autumn DiAdamo, Hongyan Chai, Deqiong Ma, Michele Spencer-Mazon, Yong-Hui Jiang, Jiadi Wen, Allen Bale, Peining Li, Hui Zhang, Richa Sharma   +11 more
wiley   +1 more source

Nail-patella syndrome with infertility in a 38 year old Saudi male: A case report

Journal of Dermatology and Dermatologic Surgery, 2016
Nail-patella syndrome (NPS) which also known as hereditary osteo-onychodysplasia is a rare autosomal-dominant disorder characterized by a classic clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns.
Nada Al-Ghamdi
doaj   +1 more source

The floating knee:a review on ipsilateral femoral and tibial fractures [PDF]

, 2016
In 1975, Blake and McBryde established the concept of ‘floating knee’ to describe ipsilateral fractures of the femur and tibia.1 This combination is much more than a bone lesion; the mechanism is usually a high-energy trauma in a patient with multiple ...
Bel, Jean-Christophe, Capel Agundez, Arantxa, Chana Rodríguez, Francisco, Muñoz Vives, Josep, Palomo Traver, José, Schultz-Larsen, Morten, Tosounidis, Theodoros   +6 more
core   +3 more sources

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, Volume 98, Issue 6, Page 1335-1351, December 2025.
[Color figure can be viewed at www.annalsofneurology.org] Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

PLoS Genetics, 2014
Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy
Sally H Cross, Danilo G Macalinao, Lisa McKie, Lorraine Rose, Alison L Kearney, Joe Rainger, Caroline Thaung, Margaret Keighren, Shalini Jadeja, Katrine West, Stephen C Kneeland, Richard S Smith, Gareth R Howell, Fiona Young, Morag Robertson, Rob van T' Hof, Simon W M John, Ian J Jackson   +17 more
doaj   +1 more source