The Experts below are selected from a list of 6525 Experts worldwide ranked by ideXlab platform
Ferdinando Valentini - One of the best experts on this subject based on the ideXlab platform.
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Syndromic true Hermaphroditism due to an R‐spondin1 (RSPO1) homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX true Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with true Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX true Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
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syndromic true Hermaphroditism due to an r spondin1 rspo1 homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX true Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with true Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX true Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
Sara Tomaselli - One of the best experts on this subject based on the ideXlab platform.
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Syndromic true Hermaphroditism due to an R‐spondin1 (RSPO1) homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX true Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with true Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX true Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
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syndromic true Hermaphroditism due to an r spondin1 rspo1 homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX true Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with true Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX true Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
Francesca Megiorni - One of the best experts on this subject based on the ideXlab platform.
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Syndromic true Hermaphroditism due to an R‐spondin1 (RSPO1) homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX true Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with true Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX true Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
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syndromic true Hermaphroditism due to an r spondin1 rspo1 homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX true Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with true Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX true Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
Giorgio Maggiulli - One of the best experts on this subject based on the ideXlab platform.
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Syndromic true Hermaphroditism due to an R‐spondin1 (RSPO1) homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX true Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with true Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX true Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
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syndromic true Hermaphroditism due to an r spondin1 rspo1 homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX true Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with true Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX true Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
Pietro Saccucci - One of the best experts on this subject based on the ideXlab platform.
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Syndromic true Hermaphroditism due to an R‐spondin1 (RSPO1) homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX true Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with true Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX true Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.
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syndromic true Hermaphroditism due to an r spondin1 rspo1 homozygous mutation
Human Mutation, 2008Co-Authors: Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando ValentiniAbstract:XX true Hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true Hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with true Hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment. R-spondin1 is a member of the R-spondin protein family and its pivotal role in sex determination has been recently described. We identified a homozygous splice-donor-site mutation in the RSPO1 gene in our patient. We found that the c.28611G>A mutation led to an aberrantly spliced mRNA (r.95_286del), which is presumably translated into a partially functional protein (p.Ile32_Ile95del). Our case demonstrates for the first time, to our knowledge, that XX true Hermaphroditism can be caused by a single gene mutation. The reported findings represent a further step toward a complete understanding of the complex mechanisms leading to DSDs. Hum Mutat 29(2), 220–226, 2008. r 2007 Wiley-Liss, Inc.