Results 101 to 110 of about 483,817 (151)

A clinical case of X-linked hypohidrotic ectodermal dysplasia caused by an Xq13.1 duplication affecting the EDA gene. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Stepanenko VI, Zhalsanova IZ, Fonova EA, Zuev AS, Gosudarkina SN, Kireeva TN, Ravzhaeva EG, Agafonova AA, Seitova GN, Monakhova AS, Skryabin NA.   +10 more
europepmc   +1 more source

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype. [PDF]

Hum Mutat
Yamada M, Cleghorn M, Krishnamurthy P, French T, Francis D, Kosaki K, Tan TY.   +6 more
europepmc   +1 more source

Duplication-based genetic dissection of the Down syndrome critical region reveals its complex functional organization. [PDF]

G3 (Bethesda)
Jiang X, Liu C, Xing Z, Li Y, Douglas A, Gao L, Pao A, Silverman J, Yu YE.   +8 more
europepmc   +1 more source

Telomere-to-Telomere Genome Assemblies of <i>Coprinellus xanthothrix</i> and <i>Coprinellus saccharinus</i> Reveal Chromosome-Scale Genome Architecture and Lineage-Specific Evolutionary Dynamics. [PDF]

J Fungi (Basel)
Yang M, Huo W, Li H, Li J, He X, Dai L, Qi P, Liu Y, Zhang L, Qiao T, Li G.   +10 more
europepmc   +1 more source

Comparative genomics reveals lineage-associated structural variation and diversification in a barley fungal pathogen. [PDF]

New Phytol
Yu X, Chhetri M, Hasan M, Roberts TH, Zhang P, Park RF, Ding Y.   +6 more
europepmc   +1 more source

Genome-wide cyclin gene evolution in Arabidopsis and Brassica reveals polyploidization-driven duplication and flowering-time associations. [PDF]

Mol Genet Genomics
Cantila AY, Chen S, Siddique KHM, Cowling WA.   +3 more
europepmc   +1 more source

Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases. [PDF]

Genes (Basel)
Bisba M, Louizou E, Vittas S.
europepmc   +1 more source

Clinical presentation and genotype-phenotype correlation of a novel pure duplication of 6p25.2-p22.3: a case report and literature review. [PDF]

Mol Cytogenet
Tang H, Xu X, Wu W, Wang Y, He Y, Qiu J, Ou T.   +6 more
europepmc   +1 more source