1. The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome 
Samuel D. Quaynor, M.S., Hyung-Goo Kim, Ph.D., Elizabeth M. Cappello, B.S., Tiera Williams, B.S., Lynn P. Chorich, M.S., David P. Bick, M.D., Richard J. Sherins, M.D., Lawrence C. Layman, M.D. 
Fertility and Sterility 
Volume 96, Issue 6, Pages e6 (December 2011)
DOI: /j.fertnstert
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

2. Figure 1
An overview of the study protocol and findings showing patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome (IHH/KS) with a known mutation (group 1) and those without a mutation (group 2).
Fertility and Sterility  , e6DOI: ( /j.fertnstert )
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

3. Figure 2
Pedigrees for 11 patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome (IHH/KS) with mutations who have available family members for segregation analysis. Squares indicate males, circles indicate females, completely shaded circles indicate affected individuals, half-shaded circles or squares indicate carriers of recessive diseases, and circles with a dot represent carriers of X-linked recessive disease. Arrows point to the proband. Known genotypes are indicated below the individual (if an individual has no genotype listed, then DNA was not available).
Fertility and Sterility  , e6DOI: ( /j.fertnstert )
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

4. Supplemental Figure 1
Electropherograms of newly identified mutations: group 1 (a–g) and group 2 (a–p). All mutations were identified by double-stranded DNA sequencing except where indicated. Patient 4 in group 2 (c, d) had compound heterozygous PROKR2 mutations that required polymerase chain reaction analysis, subsequent cloning, and sequencing of individual alleles, one of which was a 1bp deletion. A clone representing each allele is shown.
Fertility and Sterility  , e6DOI: ( /j.fertnstert )
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

5. Supplemental Figure 1
Electropherograms of newly identified mutations: group 1 (a–g) and group 2 (a–p). All mutations were identified by double-stranded DNA sequencing except where indicated. Patient 4 in group 2 (c, d) had compound heterozygous PROKR2 mutations that required polymerase chain reaction analysis, subsequent cloning, and sequencing of individual alleles, one of which was a 1bp deletion. A clone representing each allele is shown.
Fertility and Sterility  , e6DOI: ( /j.fertnstert )
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

6. Supplemental Figure 1
Electropherograms of newly identified mutations: group 1 (a–g) and group 2 (a–p). All mutations were identified by double-stranded DNA sequencing except where indicated. Patient 4 in group 2 (c, d) had compound heterozygous PROKR2 mutations that required polymerase chain reaction analysis, subsequent cloning, and sequencing of individual alleles, one of which was a 1bp deletion. A clone representing each allele is shown.
Fertility and Sterility  , e6DOI: ( /j.fertnstert )
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

7. Supplemental Figure 2
Species conservation of amino acids (AA) involved in mutations from seven different genes identified in the present study. Conservation is not shown for mutations that were described previously in the literature. AA are indicated in single letter code. All AA are completely conserved except for the KAL1 polymorphism p.S511Y (conserved in 4/8) and TACR3 p.R441C (conserved in 8/12).
Fertility and Sterility  , e6DOI: ( /j.fertnstert )
Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions