Results 151 to 160 of about 178,919 (265)

DNA Extracted From Aged Formalin‐Fixed Paraffin‐Embedded Specimens of Patients With Papillary Thyroid Carcinomas Can Be Used for Whole Exome Sequencing

Journal of Clinical Laboratory Analysis, EarlyView.
We aimed to assess the quality of DNA extracted from long‐term stored FFPE specimens of patients with papillary thyroid carcinoma from three hospitals in Hiroshima and their applicability to whole exome sequencing. FFPE samples preserved for up to 55 years may be amenable to sequencing with increased read depth.
Kousuke Tanimoto, Tomonori Hayashi, Hidewaki Nakagawa, Kazuhiro Maejima, Koji Arihiro, Megumu Fujihara, Takashi Nishisaka, Masahiro Ito, Masahiro Nakashima, Naohiro Kato, Zhenqiu Liu, Misa Imaizumi, Alina Brenner, Stephen J. Chanock, Osamu Tanabe, Kotaro Ozasa   +15 more
wiley   +1 more source

Alagille syndrome- A rare autosomal dominant disorder [PDF]

Al Ameen Journal of Medical Sciences, 2018
Rizwan-U-Zama, Nazeer Ahmad Jeergal, Naushad Ali N. Malagi, Ravindra G. Naganoor, Syeda Umme Uzra Kaleem   +4 more
doaj  

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Retinoblastoma Plus Lipomatosis: An Autosomal Dominant Syndrome

Archives of Plastic Surgery, 2014
Stefania Tenna, Mauro Barone, Pierluigi Gigliofiorito, Paolo Persichetti   +3 more
doaj   +1 more source

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG. [PDF]

Biomolecules
Al-Shahrani H, Szabó E, Staccone C, MacDonald G, Furuta Y, Schecter D, Edmondson AC, McRae A, Baker J, Morava E, Tinker RJ.   +10 more
europepmc   +1 more source

Clustering of Cerebral Microbleeds in Cerebral Amyloid Angiopathy: A Flow Territory‐Based Analysis

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Cerebral microbleeds (CMBs) are a key imaging marker of cerebral amyloid angiopathy (CAA), but their individual spatial distribution and potential clustering remain poorly understood. Purpose This study assessed whether CMBs exhibit patient‐specific, flow territory‐based clustering in sporadic (sCAA) and Dutch‐type hereditary CAA (D‐
Manon R. Schipper, Reinier G. J. van der Zwet, Jelle J. Goeman, Thijs W. van Harten, Emma A. Koemans, Marieke J. H. Wermer, Marianne A. A. van Walderveen, Matthias J. P. van Osch   +7 more
wiley   +1 more source

When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia. [PDF]

Curr Osteoporos Rep
Ferreira CR, Imel EA.
europepmc   +1 more source

The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East

JPGN Reports, EarlyView.
Abstract Objectives Monogenic causes of congenital diarrheas and enteropathies (CoDE) and very early onset inflammatory bowel disease (VEOIBD) are mostly recessive and therefore more prevalent in populations with increased consanguinity rates. To assess the genetic basis of these disorders in a likely high‐prevalence population, we established a multi ...
Lily Gillette, Muna Al Safar, Ganeshwaran H. Mochida, Casey Johnson, Stephen Babcock, Klaus Schmitz‐Abe, Michael Field, Jessica Yang, Richelle Bearup, Ahmed Megahed, Mohammed Ezz El Regal Abbas, Tarek Baraket, Sherine Elziny, Ali Sobh, Gulin Eren, Fawaz AlRefaee, Rana Bitar, Mohamed Miqdady, Pankaj B. Agrawal, Scott B. Snapper, Jay R. Thiagarajah, Jodie Ouahed   +21 more
wiley   +1 more source

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

JPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar, Shira Rockowitz, Courtney E. French, Wanqing Shao, Daniel M. Elman, Alexandra N. Carey, Tom Jaksic, Piotr Sliz, Wen Hann Tan, Christopher P. Duggan   +9 more
wiley   +1 more source

Cilia-to-basement membrane signaling is a biomechanical driver in models of autosomal dominant polycystic kidney disease. [PDF]

J Clin Invest
Mazloum M, Lapin B, Alghamdi R, Vandensteen J, Burtin M, Houillier P, Cheval L, Crambert G, Scata V, Cohen C, Schell C, Rehman M, Aka A, Ourahmoun K, Benedito R, Kuehn EW, Descroix S, Busch T, Köttgen M, Garbay S, Verpont MC, Tang E, Lelongt B, Cagnard N, Somlo S, Coscoy S, Terzi F, Viau A, Bienaimé F.   +28 more
europepmc   +1 more source