Results 11 to 20 of about 19,235 (265)

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

American Journal of Ophthalmology Case Reports, 2022
Purpose: To report on the presence of autosomal dominant and compound dominant-null RP1-related retinitis pigmentosa in the same non-consanguineous family. Observation: The father was minimally symptomatic and referred by his optometrist aged 38.
Thomas M.W. Buckley, Jasmina Cehajic-Kapetanovic, Morag Shanks, Penny Clouston, Robert E. MacLaren   +4 more
doaj   +2 more sources

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios [PDF]

Clinical Case Reports, 2023
We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1.
Takuya Sakyu, Samantha R. Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C. Braun, Ignatia B. Van den Veyver, Weimin Bi   +7 more
doaj   +2 more sources

Functional characterization of compound heterozygosity Hb S/Hb Deer Lodge in Brazil [PDF]

Hematology, Transfusion and Cell Therapy
Introduction: The Hb Deer Lodge (β2 His>Arg; HBB:c.8A>G) is a structural hemoglobin variant described in some populations around the world, characterized by increased oxygen affinity, but does not confer clinical symptoms to its carriers.
Marcondes J. Sobreira, Thais H. Batista, Rodrigo M. Santana, Gabriela S. Arcanjo, Susan E. Jorge, Magnun N. Santos, Dulcinéia M. Albuquerque, Betânia L. Hatzlhofer, Ana C. dos Anjos, Fernando F. Costa, Aderson S. Araujo, Maria F. Sonati, Antonio R. Lucena-Araujo, Marcos A. Bezerra   +13 more
doaj   +2 more sources

Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity [PDF]

Molecular Genetics & Genomic Medicine
Background Spastic Paraplegia Type 78 (SPG78) is a rare form of hereditary spastic paraplegia (HSP), mainly characterized by late‐onset lower‐limb spasticity, muscle weakness, and in some cases cerebellar dysfunction and cognitive impairment ...
R. Bermejo Ramírez, N. Villena Gascó, L. Ruiz Palmero, G. A. Ribes Bueno, E. Seiti Yamanaka, J. D. Arroyo Andújar   +5 more
doaj   +2 more sources

Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling [PDF]

Journal of Translational Medicine, 2012
Background Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin, are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some Asian populations.
Li Qi, Zhu Qing-wen, Yuan Yong-yi, Huang Sha-sha, Han Dong-yi, Huang De-liang, Dai Pu   +6 more
doaj   +2 more sources

The Characteristics of Compound Heterozygosity for Hemoglobin G-Makassar with Hb E in Malaysia [PDF]

Journal of Blood Medicine
Roszymah Hamzah,1 Ahmad Sabry Mohamad,2 Norafiza Mohd Yasin,3 Ezalia Esa,3 Guo Chen,4 Veena Selvaratnam1 1Hematology Department, Ampang Hospital, Ampang, Selangor, Malaysia; 2Medical Engineering, Universiti Kuala Lumpur-British Malaysian Institute ...
Hamzah R, Mohamad AS, Mohd Yasin N, Esa E, Chen G, Selvaratnam V   +5 more
doaj   +2 more sources

Severe fetal anemia and hydrops fetalis associated with compound heterozygosity for Hb Zurich-Albisrieden (HBA2:c.178G>C) and Hb Quong Sze (HBA2:c.377T>C). [PDF]

J Int Med Res, 2021
Du L, Bao X, He W, Qin D, Wang J, Xiong Y, Shi X, Ding H, Yao C, Wu J.   +9 more
europepmc   +2 more sources

Acute profound lactic alkalosis associated with <i>NDUFV1</i> compound heterozygosity in a previously healthy 6-year-old female. [PDF]

Mol Genet Metab Rep
Kaler SG, Fyke W, Lignelli-Dipple A, Emmanuele V, Lee EB, Lee HK, Munk A, Morales Corado JA, Iglesias A, Mehrotra P.   +9 more
europepmc   +2 more sources

OMIC-08. COMPOUND HETEROZYGOSITY OF POLE AND PMS2 LEADS TO CMMRD-LIKE PHENOTYPE- “POLYNCH” SYNDROME [PDF]

Neuro Oncol, 2021
Michaeli O, Ladany H, Maruvka Y, Erez A, Shachar S, Izraeli S, Goldberg Y, Toledano H.   +7 more
europepmc   +3 more sources

An unusual hemoglobinopathy: compound heterozygosity for hemoglobins C and E [PDF]

American Journal of Hematology, 2018
Michael Spencer Chapman, Kripesh Kiritkumar, Kirstin Lund, Barbara J. Bain   +3 more
openalex   +3 more sources