共 39 条
[31]
Disorders of Sex Development Are an Emerging Problem in French Bulldogs: A Description of Six New Cases and a Review of the Literature
[J].
Szczerbal, Izabela
;
Nowacka-Woszuk, Joanna
;
Nizanski, Wojciech
;
Dzimira, Stanislaw
;
Ligocka, Zuzanna
;
Jastrzebska, Anna
;
Kabala, Bartlomiej
;
Biernacik, Monika
;
Przadka, Przemyslaw
;
Switonski, Marek
.
SEXUAL DEVELOPMENT,
2020, 13 (04)
:205-211

Szczerbal, Izabela
论文数: 0 引用数: 0
h-index: 0
机构:
Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland

Nowacka-Woszuk, Joanna
论文数: 0 引用数: 0
h-index: 0
机构:
Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland

Nizanski, Wojciech
论文数: 0 引用数: 0
h-index: 0
机构:
Wroclaw Univ Environm & Life Sci, Dept Reprod, Wroclaw, Poland
Wroclaw Univ Environm & Life Sci, Clin Farm Anim, Wroclaw, Poland Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland

Dzimira, Stanislaw
论文数: 0 引用数: 0
h-index: 0
机构:
Wroclaw Univ Environm & Life Sci, Dept Pathol, Wroclaw, Poland Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland

Ligocka, Zuzanna
论文数: 0 引用数: 0
h-index: 0
机构:
Wroclaw Univ Environm & Life Sci, Dept Reprod, Wroclaw, Poland
Wroclaw Univ Environm & Life Sci, Clin Farm Anim, Wroclaw, Poland Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland

Jastrzebska, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Amicus Vet Clin, Zielona Gora, Poland Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland

Kabala, Bartlomiej
论文数: 0 引用数: 0
h-index: 0
机构:
Cztery Lapy Vet Clin, Kielce, Poland Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland

Biernacik, Monika
论文数: 0 引用数: 0
h-index: 0
机构:
Cztery Lapy Vet Clin, Kielce, Poland
Bull Vet Vet Clin, Szczecin, Poland Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland

Przadka, Przemyslaw
论文数: 0 引用数: 0
h-index: 0
机构:
Wroclaw Univ Environm & Life Sci, Dept Surg, Wroclaw, Poland Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland

Switonski, Marek
论文数: 0 引用数: 0
h-index: 0
机构:
Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland Poznan Univ Life Sci, Dept Genet & Anim Breeding, Wolynska 33, PL-60637 Poznan, Poland
[32]
Refining the Regulatory Region Upstream of SOX9 Associated with 46, XX Testicular Disorders of Sex Development (DSD)
[J].
Hyon, Capucine
;
Chantot-Bastaraud, Sandra
;
Harbuz, Radu
;
Bhouri, Rakia
;
Perrot, Nicolas
;
Peycelon, Matthieu
;
Sibony, Mathilde
;
Rojo, Sandra
;
Piguel, Xavier
;
Bilan, Frederic
;
Gilbert-Dussardier, Brigitte
;
Kitzis, Alain
;
McElreavey, Ken
;
Siffroi, Jean-Pierre
;
Bashamboo, Anu
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2015, 167 (08)
:1851-1858

Hyon, Capucine
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France
INSERM UMR S933, Paris, France
Univ Paris 06, UFR Med Pierre & Marie Curie, Paris, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Chantot-Bastaraud, Sandra
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Harbuz, Radu
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Poitiers, Serv Genet Med, Poitiers, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Bhouri, Rakia
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Perrot, Nicolas
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Tenon, Hop Univ Est Parisien, AP HP, Dept Radiol, F-75970 Paris, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Peycelon, Matthieu
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM UMR S933, Paris, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Sibony, Mathilde
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Tenon, Hop Univ Est Parisien, AP HP, Dept Pathol, F-75970 Paris, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Rojo, Sandra
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pasteur, Human Dev Genet, Paris, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Piguel, Xavier
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Poitiers, Serv Endocrinol, Poitiers, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Bilan, Frederic
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Poitiers, Serv Genet Med, Poitiers, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Gilbert-Dussardier, Brigitte
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Poitiers, Serv Genet Med, Poitiers, France
CHU Poitiers, Ctr Reference Anomalies Dev Ouest, Poitiers, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Kitzis, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Poitiers, Serv Genet Med, Poitiers, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

McElreavey, Ken
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pasteur, Human Dev Genet, Paris, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Siffroi, Jean-Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France
INSERM UMR S933, Paris, France
Univ Paris 06, UFR Med Pierre & Marie Curie, Paris, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France

Bashamboo, Anu
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Pasteur, Human Dev Genet, Paris, France Hop Univ Est Parisien, Hop Trousseau, AP HP, Serv Genet & Embryol Med, Paris, France
[33]
Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations
[J].
Knower, Kevin C.
;
Kelly, Sabine
;
Ludbrook, Louisa M.
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Bagheri-Fam, Stefan
;
Sim, Helena
;
Bernard, Pascal
;
Sekido, Ryohei
;
Lovell-Badge, Robin
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Harley, Vincent R.
.
PLOS ONE,
2011, 6 (03)

Knower, Kevin C.
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Henrys Inst, Melbourne, Vic, Australia Prince Henrys Inst, Melbourne, Vic, Australia

Kelly, Sabine
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Henrys Inst, Melbourne, Vic, Australia Prince Henrys Inst, Melbourne, Vic, Australia

Ludbrook, Louisa M.
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Henrys Inst, Melbourne, Vic, Australia Prince Henrys Inst, Melbourne, Vic, Australia

Bagheri-Fam, Stefan
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Henrys Inst, Melbourne, Vic, Australia
Monash Univ, Dept Anat & Dev Biol, Melbourne, Vic 3004, Australia Prince Henrys Inst, Melbourne, Vic, Australia

Sim, Helena
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Henrys Inst, Melbourne, Vic, Australia Prince Henrys Inst, Melbourne, Vic, Australia

Bernard, Pascal
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Henrys Inst, Melbourne, Vic, Australia Prince Henrys Inst, Melbourne, Vic, Australia

Sekido, Ryohei
论文数: 0 引用数: 0
h-index: 0
机构:
MRC Natl Inst Med Res, Div Dev Genet, Ridgeway, London, England Prince Henrys Inst, Melbourne, Vic, Australia

Lovell-Badge, Robin
论文数: 0 引用数: 0
h-index: 0
机构:
MRC Natl Inst Med Res, Div Dev Genet, Ridgeway, London, England Prince Henrys Inst, Melbourne, Vic, Australia

Harley, Vincent R.
论文数: 0 引用数: 0
h-index: 0
机构:
Prince Henrys Inst, Melbourne, Vic, Australia
Monash Univ, Dept Mol Biol & Biochem, Melbourne, Vic 3004, Australia Prince Henrys Inst, Melbourne, Vic, Australia
[34]
Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review
[J].
Barros, Beatriz Amstalden
;
Guaragna, Mara Sanches
;
Fabbri-Scallet, Helena
;
de Mello, Maricilda Palandi
;
Guerra-Junior, Gil
;
Maciel-Guerra, Andrea Trevas
.
SEXUAL DEVELOPMENT,
2023, 16 (04)
:242-251

Barros, Beatriz Amstalden
论文数: 0 引用数: 0
h-index: 0
机构:
State Univ Campinas UNICAMP, Interdisciplinary Grp Study Sex Determinat & Diffe, Campinas, Brazil
State Univ Campinas UNICAMP, Dept Pediat, Campinas, Brazil State Univ Campinas UNICAMP, Interdisciplinary Grp Study Sex Determinat & Diffe, Campinas, Brazil

Guaragna, Mara Sanches
论文数: 0 引用数: 0
h-index: 0
机构:
State Univ Campinas UNICAMP, Ctr Mol Biol & Genet Engn CBMEG, Campinas, Brazil State Univ Campinas UNICAMP, Interdisciplinary Grp Study Sex Determinat & Diffe, Campinas, Brazil

Fabbri-Scallet, Helena
论文数: 0 引用数: 0
h-index: 0
机构:
State Univ Campinas UNICAMP, Ctr Mol Biol & Genet Engn CBMEG, Campinas, Brazil State Univ Campinas UNICAMP, Interdisciplinary Grp Study Sex Determinat & Diffe, Campinas, Brazil

de Mello, Maricilda Palandi
论文数: 0 引用数: 0
h-index: 0
机构:
State Univ Campinas UNICAMP, Ctr Mol Biol & Genet Engn CBMEG, Campinas, Brazil State Univ Campinas UNICAMP, Interdisciplinary Grp Study Sex Determinat & Diffe, Campinas, Brazil

Guerra-Junior, Gil
论文数: 0 引用数: 0
h-index: 0
机构:
State Univ Campinas UNICAMP, Interdisciplinary Grp Study Sex Determinat & Diffe, Campinas, Brazil
State Univ Campinas UNICAMP, Dept Pediat, Campinas, Brazil State Univ Campinas UNICAMP, Interdisciplinary Grp Study Sex Determinat & Diffe, Campinas, Brazil

Maciel-Guerra, Andrea Trevas
论文数: 0 引用数: 0
h-index: 0
机构:
State Univ Campinas UNICAMP, Interdisciplinary Grp Study Sex Determinat & Diffe, Campinas, Brazil
State Univ Campinas UNICAMP, Dept Med Genet & Genom Med, Campinas, Brazil State Univ Campinas UNICAMP, Interdisciplinary Grp Study Sex Determinat & Diffe, Campinas, Brazil
[35]
A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation
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Argyriou, Loukas
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Hiort, Olaf
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Meinecke, Peter
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Wuensch, Lutz
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Volleth, Marianne
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Hinrichs, Frauke
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Caliebe, Almuth
;
Gillessen-Kaesbach, Gabriele
.
CLINICAL DYSMORPHOLOGY,
2010, 19 (04)
:190-194

Argyriou, Loukas
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany

Hiort, Olaf
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Klin Kinder & Jugendmed, D-23538 Lubeck, Germany Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany

Meinecke, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Altonaer Kinderkrankenhaus, Abt Med Genet, Hamburg, Germany Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany

Wuensch, Lutz
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Klin Kinderchirurg, D-23538 Lubeck, Germany Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany

Volleth, Marianne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Klinikum Magdeburg, Inst Humangenet, Magdeburg, Germany Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany

Hinrichs, Frauke
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany

Caliebe, Almuth
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Kiel, Inst Humangenet, Kiel, Germany Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany

Gillessen-Kaesbach, Gabriele
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany Med Univ Lubeck, Inst Humangenet, D-23538 Lubeck, Germany
[36]
FOXL2 and SOX9 as parameters of female and male gonadal differentiation in patients with various forms of disorders of sex development (DSD)
[J].
Hersmus, R.
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Kalfa, N.
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de Leeuw, B.
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Stoop, H.
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Oosterhuis, J. W.
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de Krijger, R.
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Wolffenbuttel, K. P.
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Drop, S. L. S.
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Veitia, R. A.
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Fellous, M.
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Jaubert, F.
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Looijenga, L. H. J.
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JOURNAL OF PATHOLOGY,
2008, 215 (01)
:31-38

Hersmus, R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands

Kalfa, N.
论文数: 0 引用数: 0
h-index: 0
机构:
ICGM, Cochin Inst, Paris, France Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands

de Leeuw, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands

Stoop, H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands

Oosterhuis, J. W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands

de Krijger, R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands

Wolffenbuttel, K. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pediat Urol, NL-3000 CA Rotterdam, Netherlands Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands

Drop, S. L. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pediat Endocrinol, NL-3000 CA Rotterdam, Netherlands Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands

Veitia, R. A.
论文数: 0 引用数: 0
h-index: 0
机构:
ICGM, Cochin Inst, Paris, France Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands

Fellous, M.
论文数: 0 引用数: 0
h-index: 0
机构:
ICGM, Cochin Inst, Paris, France Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands

Jaubert, F.
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, U709, Paris, France Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands

Looijenga, L. H. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands Univ Med Ctr Rotterdam, Erasmus Mc, Dept Pathol, Josephine Nefkens Inst,Daniel Den Hoed Canc Ctr, NL-3000 CA Rotterdam, Netherlands
[37]
Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development
[J].
Ushijima, Kikumi
;
Ogawa, Yuya
;
Terao, Miho
;
Asakura, Yumi
;
Muroya, Koji
;
Hayashi, Mie
;
Ishii, Tomohiro
;
Hasegawa, Tomonobu
;
Sekido, Ryohei
;
Fukami, Maki
;
Takada, Shuji
;
Narumi, Satoshi
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2021, 185 (04)
:1067-1075

Ushijima, Kikumi
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

Ogawa, Yuya
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Inst Child Hlth & Dev, Dept Syst BioMed, Tokyo, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

Terao, Miho
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Inst Child Hlth & Dev, Dept Syst BioMed, Tokyo, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

Asakura, Yumi
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Yokohama, Kanagawa, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

Muroya, Koji
论文数: 0 引用数: 0
h-index: 0
机构:
Kanagawa Childrens Med Ctr, Dept Endocrinol & Metab, Yokohama, Kanagawa, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

Hayashi, Mie
论文数: 0 引用数: 0
h-index: 0
机构:
Keio Univ, Dept Pediat, Sch Med, Tokyo, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

Ishii, Tomohiro
论文数: 0 引用数: 0
h-index: 0
机构:
Keio Univ, Dept Pediat, Sch Med, Tokyo, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

Hasegawa, Tomonobu
论文数: 0 引用数: 0
h-index: 0
机构:
Keio Univ, Dept Pediat, Sch Med, Tokyo, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

Sekido, Ryohei
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Aberdeen, Inst Med Sci, Aberdeen, Scotland Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

Fukami, Maki
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

Takada, Shuji
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Inst Child Hlth & Dev, Dept Syst BioMed, Tokyo, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan

Narumi, Satoshi
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan
Keio Univ, Dept Pediat, Sch Med, Tokyo, Japan Natl Res Inst Child Hlth & Dev, Dept Mol Endocrinol, Tokyo, Japan
[38]
Three patients with 9p deletions including DMRT1 and DMRT2:: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development
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Öunap, K
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Uibo, O
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Zordania, R
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Kiho, L
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Ilus, T
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Öiglane-Shlik, E
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Bartsch, O
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2004, 130A (04)
:415-423

Öunap, K
论文数: 0 引用数: 0
h-index: 0
机构: Tartu Unic Clin, Ctr Med Genet, United Labs, EE-51005 Tartu, Estonia

Uibo, O
论文数: 0 引用数: 0
h-index: 0
机构: Tartu Unic Clin, Ctr Med Genet, United Labs, EE-51005 Tartu, Estonia

Zordania, R
论文数: 0 引用数: 0
h-index: 0
机构: Tartu Unic Clin, Ctr Med Genet, United Labs, EE-51005 Tartu, Estonia

Kiho, L
论文数: 0 引用数: 0
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机构: Tartu Unic Clin, Ctr Med Genet, United Labs, EE-51005 Tartu, Estonia

Ilus, T
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机构: Tartu Unic Clin, Ctr Med Genet, United Labs, EE-51005 Tartu, Estonia

Öiglane-Shlik, E
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机构: Tartu Unic Clin, Ctr Med Genet, United Labs, EE-51005 Tartu, Estonia

Bartsch, O
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机构: Tartu Unic Clin, Ctr Med Genet, United Labs, EE-51005 Tartu, Estonia
[39]
Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development
[J].
Pan, Sinian
;
Guo, Shili
;
Liu, Liting
;
Yang, Xiaoyuan
;
Liang, Hanmei
.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS,
2020, 37 (02)
:477-486

Pan, Sinian
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机构:
Sun Yat Sen Univ, Dept Pediat, Affiliated Hosp 3, 600 Tianhe Rd, Guangzhou 510630, Peoples R China Sun Yat Sen Univ, Dept Pediat, Affiliated Hosp 3, 600 Tianhe Rd, Guangzhou 510630, Peoples R China

Guo, Shili
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Sun Yat Sen Univ, Dept Pediat, Affiliated Hosp 3, 600 Tianhe Rd, Guangzhou 510630, Peoples R China Sun Yat Sen Univ, Dept Pediat, Affiliated Hosp 3, 600 Tianhe Rd, Guangzhou 510630, Peoples R China

Liu, Liting
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机构:
Sun Yat Sen Univ, Dept Pediat, Affiliated Hosp 3, 600 Tianhe Rd, Guangzhou 510630, Peoples R China Sun Yat Sen Univ, Dept Pediat, Affiliated Hosp 3, 600 Tianhe Rd, Guangzhou 510630, Peoples R China

Yang, Xiaoyuan
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机构:
Sun Yat Sen Univ, Dept Pediat, Affiliated Hosp 3, 600 Tianhe Rd, Guangzhou 510630, Peoples R China Sun Yat Sen Univ, Dept Pediat, Affiliated Hosp 3, 600 Tianhe Rd, Guangzhou 510630, Peoples R China

Liang, Hanmei
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机构:
Sun Yat Sen Univ, Dept Pediat, Affiliated Hosp 3, 600 Tianhe Rd, Guangzhou 510630, Peoples R China Sun Yat Sen Univ, Dept Pediat, Affiliated Hosp 3, 600 Tianhe Rd, Guangzhou 510630, Peoples R China