1
We performed genetic linkage analysis in consanguineous families affected by hypogammaglobulinemia.
2
Methods: Exome sequencing of patients from consanguineous families with likely recessive phenotypes was performed.
3
Methods: We studied three consanguineous families with nine FA patients and an additional unrelated patient.
4
The authors identified two unrelated consanguineous families with HGPS.
5
These findings will facilitate the implementation of preventive approaches through genetic counseling in affected consanguineous families.
6
We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss.
7
Seven highly consanguineous families segregating nonsyndromic autosomal recessive deafness were analyzed to refine the DFNB12 locus.
8
We report a novel form of autosomal recessive dHMN in 7 consanguineous families located in the Jerash region of Jordan.
9
Single nucleotide polymorphism array revealed 1 overlapping homozygous region on chromosome 20 in the consanguineous families.
10
This mutation was homozygous in two patients born from consanguineous families and heterozygous in the third patient born from unrelated parents.
11
Four consanguineous families with childhood-onset humoral immune deficiency and features of autoimmunity shared genotype evidence for a linkage interval on chromosome 4q.
12
Methods: We studied three children from two consanguineous families with severe developmental and epileptic encephalopathy (DEE) through detailed physical and instrumental examinations.
13
We investigated the clinical and molecular features of eleven patients with CGD from 6 consanguineous families, originating from contiguous regions in the west of Tunisia.
14
Homozygosity mapping in consanguineous families defined the limits of the candidate region in an approximately 4-cM interval between markers D1S442 and D1S2347.
15
Linkage to the phospholipase C-β 1 locus was excluded in the 12 other consanguineous families, consistent with genetic heterogeneity in this disorder.
16
Haplotype reconstruction for eight families and determination of the smallest region of homozygosity in two consanguineous families reduced the candidate interval to 11.3 cM.
