Results 291 to 300 of about 1,506,824 (383)

A novel <i>SIGMAR1</i> missense mutation leads to distal hereditary motor neuropathy phenotype mimicking juvenile ALS: a case report of China. [PDF]

Front Genet
Yu Q, Mohammed Nazar RB, Chen S, Qian Q, Wang J, Chen X.   +5 more
europepmc   +1 more source

Pyridostigmine as treatment for chronic gastrointestinal dysmotility in a child with Mowat‐Wilson syndrome: A case report and literature review

JPGN Reports, EarlyView.
Abstract Gastrointestinal dysmotility is commonly reported among patients with Mowat‐Wilson syndrome (MWS) and poses a significant symptomatic burden. Unfortunately, there remains a knowledge gap regarding effective treatment strategies. A 2‐year‐old male with MWS presented with chronic paradoxical abdominal pain, constipation, and progressively ...
Grace J. Lin, Shreya B. Kishore, Sally Samaan, Lisa S. Hackett, Kevan Jacobson, Gabriella Horvath   +5 more
wiley   +1 more source

Developmental defects in ectodermal appendages caused by missense mutation in edaradd gene in the nfr mangrove killifish kryptolebias marmoratus. [PDF]

Sci Rep
Saud HA, O'Neill PA, Ring BC, Kudoh T.
europepmc   +1 more source

Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation inCPS1

, 1998
Ulrich Finckh, Alfried Kohlschütter, Hansjörg Schäfer, Katja Sperhake, Jean‐Pierre Colombo, Andreas Gal   +5 more
openalex   +1 more source

Hereditary hypofibrinogenemia: A rare cause of chronic liver disease

JPGN Reports, EarlyView.
Abstract Hypofibrinogenemia is characterized by low levels of fibrinogen with patients commonly presenting asymptomatically. This report discusses a case of hereditary hypofibrinogenemia manifesting as chronic liver disease in a 2‐year‐old male who was evaluated for elevated liver enzymes and skin/soft tissue bleeding.
Hannah Caringal, Nolan Maloney, Khyati Mehta, Akshat Jain, Kalyan Parashette   +4 more
wiley   +1 more source

A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3. [PDF]

Front Neurol
Liu H, Dong J, Xie Z, Yu L.
europepmc   +1 more source

Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals

, 1998
Stefan Ries, Christa Büchler, Gisela Schindler, Charalampos Aslanidis, Detlev Ameis, Christoph Gasché, Nikola Jung, Axel Schambach, Petra Fehringer, Marie T. Vanier, Dominique C. Belli, Heiner Greten, Gerd Schmitz   +12 more
openalex   +1 more source

P53 Function Status Correlates With Overall Survival in Patients With Resected Pancreatic Cancer

Journal of Surgical Oncology, EarlyView.
ABSTRACT Background The P53 gene is the most common tumor‐suppressor gene mutated in pancreatic ductal adenocarcinoma (PDAC). The gene's normal function is critical for regulation of replication, DNA repair, and apoptosis. The purpose of our study is to determine the impact of the various P53 mutation subtypes on survival in resected PDAC. Methods This
Hui Chen, Alisha Agarwal, Sreekanth Yellanki, Harish Lavu, Richard Zheng, Wilbur B. Bowne, Charles J. Yeo, Aditi Jain, Avinoam Nevler   +8 more
wiley   +1 more source

Extragenic suppression of motA missense mutations of Escherichia coli

, 1996
Anthony G. Garza, Philip A. Bronstein, Patricia A. Valdez, Larry W. Harris-Haller, Michael D. Manson   +4 more
openalex   +1 more source

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4. [PDF]

Front Psychiatry
Al-Hassnan Z, AlDosary M, AlHargan A, AlQudairy H, Almass R, Alahmadi KO, AlShahrani S, AlBakheet A, Almuhaizea MA, Taylor RW, Colak D, Kaya N.   +11 more
europepmc   +1 more source