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Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
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Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.
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Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
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2007 |
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CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.
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CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens.
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8 |
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
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9 |
CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.
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10 |
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens.
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11 |
Congenital bilateral absence of vas deferens in the absence of cystic fibrosis.
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On the familial occurrence of congenital bilateral absence of vas deferens.
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13 |
On the familial occurrence of congenital bilateral absence of vas deferens.
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CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies.
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15 |
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.
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16 |
Could a defective epithelial sodium channel lead to bronchiectasis.
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17 |
Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens.
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18 |
A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing.
6
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Hefferon TW...Cutting GR
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2004 |
19 |
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
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20 |
Cystic fibrosis: a further case of an asymptomatic compound heterozygote.
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21 |
Cystic Fibrosis and Congenital Absence of the Vas Deferens
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22 |
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
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23 |
CFTR gene variant for patients with congenital absence of vas deferens.
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24 |
A mutation in CFTR produces different phenotypes depending on chromosomal background.
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25 |
Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.
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26 |
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
6
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27 |
High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens.
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28 |
Cystic fibrosis manifested as undescended testis and absence of vas deferens.
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31 |
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32 |
Congenital absence of the vas deferens. The fertilizing capacity of human epididymal sperm.
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33 |
Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
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34 |
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.
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35 |
Congenital aplasia of the vasa deferentia of autosomal recessive inheritance in two unrelated sib-pairs.
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Familial occurrence of azoospermia and extreme oligozoospermia.
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Autosomal recessive hereditary congenital aplasia of the vasa deferentia in four siblings.
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Observations on cystic fibrosis of the pancreas. V. Developmental changes in the male genital system.
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Reproductive failure in males with cystic fibrosis.
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Is CFTR 621+3 A>G a cystic fibrosis causing mutation?
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41 |
CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure.
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Chiang HS...Hwang JL
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2008 |
42 |
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens.
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43 |
Simple method for haplotyping the poly(TG) repeat in individuals carrying the IVS8 5T allele in the CFTR gene.
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54
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44 |
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.
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54
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Wu CC...Wong LJ
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45 |
A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).
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61
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Disset A...Tuffery-Giraud S
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46 |
The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization.
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61
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Wong LJ...Margetis MF
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47 |
Genetic analysis of males from intracytoplasmic sperm injection couples.
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61
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48 |
Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens.
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49 |
[Severe male infertility. Genetic investigation and counseling prior to intracytoplasmic sperm injections].
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Mikkelsen AL...Lindenberg S
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[Severe male infertility. Genetic investigation and counseling prior to intracytoplasmic sperm injection].
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61
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Mikkelsen L
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