Results 231 to 240 of about 117,110 (303)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Tick threats in the context of climate change: One Health response strategies in the Middle East and North Africa region. [PDF]

Sci One Health
Perveen N, Sparagano O, Gharbi M, Khan G, Qablan M, Iliashevich D, Kishore U, Willingham AL.   +7 more
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Corrigendum to “Reports of Lipoptena fortisetosa on dogs and in the environment, and evidence of its widespread establishment in Hungary” [Int. J. Parasitol: Parasites and Wildlife 28 (2025) 101161]

International Journal for Parasitology: Parasites and Wildlife
Adrienn Gréta Tóth, Attila Bende, Sándor Hornok, Zsombor Wagenhoffer, Balázs Szulyovszky, Viktória Galla, Petra Vöröskői, Gergő Keve   +7 more
doaj   +1 more source

Bite by bite: Exposing hidden tick-borne disease risks among Nigeria's ruminant livestock workers. [PDF]

One Health
Daodu OB, Audu RA, Oluwayelu DO.
europepmc   +1 more source

Cryohydrocytosis: When Cold Breaks the Membrane

American Journal of Hematology, EarlyView.
Athina Ntoumaziou, Mary Risinger, Yasmin Elgammal, Wenying Zhang, Theodosia A. Kalfa, Luke R. Smart   +5 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

High throughput sequencing in the diagnosis and surveillance of tick-borne diseases: A narrative review. [PDF]

One Health
Bisso YI, Duron O, Plantard O, Prevost G, Jaulhac B, Boyer P.   +5 more
europepmc   +1 more source

The 'teabag method': tick feeding protocol and the effects of tick feeding on hematological parameters in the canine host. [PDF]

Parasit Vectors
Ferm J, Ganta R.
europepmc   +1 more source

Tick-borne pathogens in meat sheep from Brazil: first report of Theileria ovis in sheep in latin America. [PDF]

Parasitol Res
Balaro MFA, Cordeiro MD, Magalhães IFB, Pereira JC, de Azevedo Baêta B, Guterres A, da Silva CB, da Cunha NC.   +7 more
europepmc   +1 more source