Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Masayo Kagami, Yoichi Sekita, Gen Nishimura, Masahito Irie, Fumiko Kato, Michiyo Okada, Shunji Yamamori, Hiroshi Kishimoto, Masahiro Nakayama, Yukichi Tanaka, Kentarou Matsuoka, Tsutomu Takahashi, Mika Noguchi, Yoko Tanaka, Kouji Masumoto, Takeshi Utsunomiya, Hiroko Kouzan, Yumiko Komatsu, Hirofumi Ohashi, Kenji Kurosawa, Kenjirou Kosaki, Anne C Ferguson-Smith, Fumitoshi Ishino, Tsutomu Ogata Nature Genetics 40, 237-242, 2008

研究内容概説ーヒト染色体14q32.2インプリンティングクラスターには、DLK1やRTL1などの父親性発現 遺伝子（PEG）と、MEG3（別名GTL2）、RTL1as（RTL1アンチセンス）、MEG8などの母親 性発現遺伝子（MEG）が存在する。これらの部位に は、親由来に依存してメチル化状態が決定されるDLK1 RTL1遺伝子間領域 （IG-DMR）や、MEG3-DMRも存在する。これらの知見に一致して、14番染色体の父親性片親性ダイソミー（upd（14）pat）と母親性片親性ダイソミー （upd（14）mat）は、異なるタイプの特徴的表現型を生じる。我々は、 upd（14）ではないが、upd（14）pat様表現型の人8人（症例1−8）と upd（14）mat様 表現型の人3人（症例9−11）について研究を行い、このインプリンティングされた領 域に影響を与えるさまざまな欠失やエピジェネティック変異を同定した。この結果 は、最近のマウスにおけるデータと合わせ て、IG-DMRが母親由来染色体にシスに作用する重要な調節機能をもつこと、 また、RTL1の過剰発現がupd（14）pat様表現型発症 を、またDLK1とRTL1の発 現低下がupd（14）mat様表現型発症を招く主因であることを示唆するものである。
国立成育医療センター研究所（日）、M Kagami et al.

CXorf6 is a causative gene for hypospadias. M. Fukami, Y. Wada, K. Miyabayashi, I. Nishino, T. Hasegawa, G. Camerino, C. Kretz, A. Buj-Bello, J. Laporte, G. Yamada, K. Morohashi, T. Ogata. Nature Genetics (05 Nov 2006) Brief Communications

研究内容概説ー尿道下裂は、出生男児の約0.5%を占める比較的頻度の高い性分化異常症で、様々な原因により男性ホルモン効果が性分化の臨界期（在胎6−10週位）に障害された時に生じる。
今回、われわれは、Ｘ染色体長腕遠位部に存在するCXorf6のナンセンス変異を3家系4例の重症尿道下裂患者で同定し、CXorf6が新規尿道下裂責任遺伝子であることを明確とした。さらに、マウス相同遺伝子が精巣のセルトリ細胞（精巣形成に必須の細胞）とライディッヒ細胞（男性ホルモン産生細胞）で性分化の臨界期において一過性に発現していることから、その変異は、胎児期一過性男性ホルモン産生障害により尿道下裂を招くと推測される。

2009年発表論文

Sim SC, W Miller WL, Zhong X-B, Arlt W, Ogata T, Ding X, Wolf R, Fluck CE, Pandey AV, Henderson CJ, Porter TD, Daly AK, Nebert DW, Ingelman-Sundberg M. Nomenclature for alleles of the cytochrome P450 oxidoreductase (POR) gene. Pharmacogenetics and Genomics (in press)

Ogata T, Laporte J, FGukami M. MAMLD1 (CXorf6): a new gene involved in hypospadias. Hormone Research (in press)

Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, TIshii T, Numakura C, HSawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, RHorikawa R, Fujieda K, Ogata T. Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. Journal of Clinical Endocrinology and Metabolism (in press)

Hayakawa K, Katsumata N, Abe K, Hirano M, Yoshikawa K, Ogata T, Horikawa R, Nagamine T. Wide range of biotin (vitamin H) content in the foodstuffs and powdered milks assessed by the high-performance affinity chromatography. Clinical Pediatric Endocrinology 18, 41-49, 2009

Kobayashi H, Yamadaa K, Morita S, Hiura H, Fukuda A, Kagami M, Ogata T, Hata K, Sotomaru Y, Kono T. Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2. Genomics (in press)

Wada Y, Nishimura G, Nagai T, Sawai H, Yishikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T. Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia or acampomelic campomelic dysplasia. American Journal of Medical Genetics A (in press)

Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF Jr, Hoefsloot LH. CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome. Clinical Genetics 75, 65-71, 2009

Sugawa F, Wada Y, Okada M, Maruyama T, Uchida H, Arase T, Hamada N, Ishizuka B, Ogata T. Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns. Fertility and Sterility 91, 649-652, 2009

2008年発表論文

Wada Y, Fukami M, Ogata T. MAMLD1: a new gene for hypospadias. Journal of Japan Society of Reproductive Endocrinology 13, 37-42, 2008

Ogata T, Fukami M, Wada Y. MAMLD1 (CXorf6) is a new gene for hypospadias. Clinical Pediatric Endocrinology 17, 87-93, 2008

Ogata T, Kagami M. Molecular mechanisms leading to the phenotypic development in paternal and maternal uniparental disomy for chromosome 14. Clinical Pediatric Endocrinology 17, 103-111, 2008

Ogata T, Kagami M, Ferguson-Smith AC. Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14. Epigenetics 3, 181-187, 2008

Ogata T, Wada Y, Fukami M. MAMLD1 (CXorf6): a new gene for hypospadias. Sexual Development 2, 244-250, 2008

Ogata T. Progress in analysing disorders of sexual development: Preface. Sexual Development 2, 171, 2008

Rocha ST, Edwards CA, Ito M, Ogata T, Ferguson-Smith AC. Genomic imprinting at the mammalian Dlk1-Dio3 domain. Trends in Genetics 24, 306-316, 2008

Yoshida R, Ogata T. A novel A461S mutation of PTPN11 in a female with LEOPARD syndrome. Clinical Pediatric Endocrinology 17, 121-122, 2008

Yamazawa K, Kagami M, Fukami M, Ogata T. Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR. Journal of Human Genetics 53, 950-955, 2008

Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T. Placentomegaly in paternal uniparental disomy for human chromosome 14. Placenta 29, 760-761, 2008

Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T. OTX2 Mutation in a patient with anophthalmia, short stature, and partial GH deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. Journal of Clinical Endocrinology and Metabolism 93, 3697-702, 2008

Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T. Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for the critical role of IGF2 as the growth determinant and the differential imprinting regulation of the IGF2?H19 domain in bodies and placentas. Journal of Molecular Medicine 86, 1171-1181, 2008

Iso M, Fumami M, Horikawa R, Azuma N, Kawashiro N, Ogata T. SOX10 Mutation in Waardenburg Syndrome Type II. American Journal of Medical Genetics 146A, 2162-2163, 2008

Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S. Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype. European Journal of Human Genetics 16, 1019-1023, 2008

Fukami M, Dateki S, Kato F, Hasegawa Y, Mochizuki H, Horikawa R, Ogata T. Identification and characterization of cryptic SHOX intragenic deletions in three patients with Lweri-Weill dyschondrosteosis. Journal of Human Genetics 53, 454-459, 2008

Yoshida R, Ogata T, Masawa N, Nagai T. Hepatoblastoma in a patient with PTPN11 mutation positive Noonan syndrome. Pediatric Blood & Cancer 50, 1274-1276, 2008

Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T. CXorf6 (MAMR1: mastermind-related 1) transactivates the Hes3 promoter, augments testosterone production, and contains the target sequence for SF-1. Journal of Biological Chemistry 283, 5525-5532, 2008

Sekita Y, Wagatsuma H, Nakamura K, Ono R, Kagami M, Wakisaka N, Hino T, Suzuki-Migishima R, Kohda T, Ogura A, Ogata T, Yokoyama M, Kaneko-Ishino T, Ishino F. Essential role of Rtl1 in the feto-maternal interface of mouse placenta. Nature Genetics 40, 243-248, 2008

Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T. Deletions and epimutations affecting the human chromosome 14q32.2 imprinted region: implications for the phenotypic development in paternal and maternal uniparental disomy for chromosome 14. Nature Genetics 40, 237-242, 2008

Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T. Placental hypoplasia in maternal uniparental disomy for chromosome 7. Americam Journal of Medical Gneteics A 146, 514-516, 2008

Suzuki K, Haraguchi R, Ogata T, Barbieri O, Alegria O, Vieux-Rochas M, Nakagata N, Ito M, Mills A, Kurita T, Levi G, Yamada G. Abnormal urethra formation as a model for hypospadias of the split-hand-foot malformation (SHFM). European Journal of Human Genetics 16, 36-44, 2008

2007年発表論文

Seishima M, Mizutani Y, Shibuya Y, Arakawa C, Yoshida R, Ogata T. Malignant melanoma in a female with LEOPARD syndrome: identification of a germline PTPN11 mutation of and a somatic BRAF mutation. British Journal of Dermatology 157, 1297-1299, 2007

Yamamoto K, Yoshida R, Ogata T. KRAS analysis in 34 PTPN11 mutation negative Noonan syndrome patients. Clinical Pediatric Endocrinology 16, 99-101, 2007

Ogata T, Tanaka T, Kagami M. Target height and target range for the Japanese children: revisited. Clinical Pediatric Endocrinology 16, 85-87, 2007

Kagami M, Nagai T, Fukami M, Kazuki Yamazawa K, Ogata T. Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. Journal of Assisted Reproduction and Genetics 24, 131-136, 2007

Watanabe M, Yoshida R, Ueoka K, Aoki K, Sasagawa I, Hasegawa T, Sueoka K, Kamitsuji S, Kamatani N, Yoshimura Y, Ogata T. Haplotype analysis of the estrogen receptor α gene in male genital and reproductive abnormalities. Human Reproduction 22, 1279-1284, 2007

Sato N, Kamachi Y, Kondoh H, Shima Y, Morohashi K, Horikawa R, Ogata T. Hypogonadotropic hypogonadism in an adult female with heterozygous hypomorphic mutation of SOX2. European Journal of Endocrinology 156, 167-171, 2007.

2006年発表論文

Ogata T. Genetics of human growth. Clinical Pediatric Endocrinology 15, 45-53, 2006

Ogata T, Fukami M. Clinical lessons from SHOX mutation research. International Growth Monitor 16, 2-6, 2006

Wada Y, Okada M, Fukami M, Sasagawa I, Ogata T. Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Fertility and Sterility 85, 787-790, 2006

M. Fukami, Y. Wada, K. Miyabayashi, I. Nishino, T. Hasegawa, G. Camerino, C. Kretz, A. Buj-Bello, J. Laporte, G. Yamada, K. Morohashi, T. Ogata. CXorf6 is a causative gene for hypospadias. Nature Genetics (05 Nov 2006) Brief Communications

M. Fukami, T. Hasegawa, R. Horikawa, T. Ohashi, G. Nishimura, K. Homma, T. Ogata. Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency. Pediatr. Res. 59, 276-280, 2006

Fukami M, Kato F, Tajima T, Yokoya S, Ogata T. Transactivation function of a ~800 bp evolutionally conserved sequence at the SHOX 3’ region: implication for the downstream enhancer. American Journal of Human Genetics 78, 167-170, 2006

N. Sato, K. Ohyama, M. Fukami, M. Okada, T. Ogata. Somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son: implication for apparently mutation negative Kallmann syndrome. J. Clin. Endocrinol. Metab. 91, 1415-1418, 2006

Goto M, Nishimura G, Nagai T, Yamazawa K, Ogata T. Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation. American Journal of Medical Genetics A 140, 1013-1015, 2006

K. Homma, T. Hasegawa, T. Nagai, M. Adachi, R. Horikawa, I. Fujiwara, T. Tajima, R. Takeda, M. Fukami, T. Ogata. Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. J. Clin. Endocrinol. Metab. (in press)

Nagai T, Obata K, Ogata T, Murakami N, Katada Y, Yoshino N, Sakazume S, Tomita Y, Niikawa N. Growth hormone therapy and scoliosis in patients with Pdare-Willi syndrome. American Journal of Medical Genetics A 140, 1623-1627, 2006

Ogata T, Udaka T, Fujiwara I, Ogawa E, Sato N, Kosaki K. Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. Endocrine Journal 53, 741-743, 2006

K. Yamazawa, Y. Wada, I. Sasagawa, K. Aoki, K. Ueoka, T. Ogata. Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism. Horm. Res. (in press)

Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. Americam Journal of Medical Gneteics A 140, 1719-1725, 2006

Kohda E, Yamazaki H, Hisazumi H, Tutumi Y, Ogata T, Shiraga N. Imaging of congenital　lipoid adrenal hyperplasia. Radiation Medicine 24, 217-219, 2006,

Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S. Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. Journal of Human Gneteics 51, 706-710, 2006

Hayakawa K, Guo L, Terentyeva EA, Li XK, Kimura H, Hirano M, Yoshikawa K, Nagamine T, Katsumata N, Ogata T, Tanaka T. Determination of specific activities and kinetic constants of biotinidase and lipoamidase in LEW rat and Lactobacillus casei (Shirota). J Chromatogr B Analyt Technol Biomed Life Sci 844, 240-250, 2006

2005年発表論文

M. Fukami, R. Horikawa, T. Nagai, T. Tanaka, Y. Naiki, N. Sato, T. Okuyama, H. Nakai, S. Soneda, K. Tachibana, N. Matsuo, S. Sato, K. Homma, G. Nishimura, T. Hasegawa, T. Ogata Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J. Clin. Endocrinol. Metab. 90, 414-426, 2005

Morii T, Ohno Y, Horese H, Kawabe H, Ogata T, Hirano K, Eguchi T, Mruyama T, Kanno Y, Hayashu M, Saito I, Saruta T. Cellular insulin resistance in Ebstein-Barr virus-transformed lymphoblasts from young insulin-resistant Japanese men. Metabolism 54, 370-375, 2005

S. Soneda, M. Fukami, N. Matsuo, T. Hssegawa, M. Fujimoto, Y. Koitabashi, T. Ogata. Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling. Endocr. J. 52, 83-88, 2005

R. Yoshida, M. Fukami, I. Sasagawa, T. Hasegawa, N. Kamatani, T.Ogata. Association of cryptorchidism with a specific haplotype of the estrogen receptor a gene: implication for the susceptibility to estrogenic environmental endocrine disruptors. J. Clin. Endocrinol. Metab. 90, 4716-4721, 2005

Matsubara K, Yabe H, Ogata T, Yoshida R, Fukuya T. Acute myeloid leukemia in an adult Noonan syndrome patient with PTPN11 mutation. American Journal of Hematology 79, 171-172, 2005

Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T. Microdeletion in the SHOX 3’ region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. American Journal of Medical Genetics A 137, 72-76, 2005

N. Sato, T. Hasegawa, N. Hori, M. Fukami, Y. Yoshimura, T. Ogata Gonadotropin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families. Hum. Reproduct. 20, 2173-2178, 2005

Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller R, Ogata T, Raas-Rothshild A, Christine de Blois M, Wilson L, Zaidman G, Zuffardi O, Ballabio A, Franco B. Microphthalmia with linear skin lesions (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases and mutation analysis of candidate genes in karyotypically normal cases. American Journal of Medical Genetics A 137, 190-198, 2005

Kagami M, Nishimura G, Okuyama T, Hayashidani M, Takeuchi T, Tanaka S, Ishino F, Kurosawa K, Ogata T. Segmental and full paternal isodisomy for chromosome 14 in three patients: localization of the critical region and implication for the clinical features. American Journal of Medical Genetics A 138, 127-132, 2005

Y. Wada, M. Okada, M. Fukami, I. Sasagawa, T.Ogata. Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Fertil. Steril. 85, 787-790, 2006

Y. Wada, M. Okada, T. Hasegawa, T. Ogata. Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Endocr. J. 52, 445-448, 2005

S. Liu, T. Ogata, T. Maruyama, Y. Yoshimura, B. Ishizuka. Association of common LH variant with hyperfunctional promoter in a Japanese infertile woman. Endocr. J. 52, 781-784, 2005

Hayakawa K, Nagamine T, Li X-K, Katsumata N, Ogata T, Tanaka T. Affinity chromatographic determination of D-aspartic acid in the liver cell lines. Trends in Chromatography 1, 105-110, 2005

Ogata T, Yoshida R. PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes. Pediatric Endocrinology Reviews 2, 669-674, 2005

2004年発表論文

N. Sato, N. Katsumata, M. Kagami, T. Hasegawa, N. Hori, S. Kawakita, S. Minowada, A. Shimotsuka, Y. Shishiba, M. Yokozawa, T. Yasuda, K. Nagasaki, D. Hasegawa, Y. Hasegawa, K. Tchibana, Y. Naiki, R. Horikawa, T. Tanaka, T. Ogata. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J. Clin. Endocrinol. Metab. 89, 1079-1088, 2004

Fukami M, Nishi Y, Hasegawa Y, Miyoshi Y, Okabe T, Haga N, Nagai T, Tanaka T, Ogata T. Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens. Endocrine Journal 51, 197-200, 2004

K. Kosaki, S. Sato, T. Hasegawa, N. Matsuo, T. Suzuki, T. Ogata. Premature ovarian failure in a female with proximal symphalangism and NOG mutation. Fertil. Steril. 81, 1137-1139, 2004

Komada F, Sekine T, Inatomi J, Enomoto A, Endou H, Ota T, Matsuyama T, Ogata T, Ikeda M, Awazu M, Muroya K, Kmimaki I, Igarashi T. The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. Pediatric Nephrology 19, 728-733, 2004

Y. Fujimoto, T. Okuyama, M. Iijima, T. Tanaka, R. Horikawa, K. Yamada, T. Ogata. Genitourinary phenotype in XX patients with distal 9p monosomy. Mol. Genet. Metab. 82, 173-179, 2004

Yoshida R, Miyata M, Nagai T, Yamazaki T, Ogata T. A 3 bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. American Journal of Medical Genetics A 128, 63-66, 2004

T. Ishii, G. Sasaki, R. Sasaki, S. Sato, N. Matsuo, T. Hasegawa, T. Ogata. Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in 53 Japanese boys with micropenis. J. Urol.172, 319-324, 2004

Shiihara T, Kato M, Kimura T, Hayasaka K, Yamamori S, Ogata T. Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy. American Journal of Medical Genetics A 128, 214-216, 2004

Yoshida R, Hasegawa T, Hasegawa Y, Nagai T, Kinoshita E, Tanaka Y, Kanegane H, Ohyama K, Onishi T, Hanew k, Okuyama T, Horikawa R, Tanaka T, Ogata T. Protein tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. Journal of Clinical Endocrinology and Metabolism 89, 3359-3364, 2004

M. Watanabe, K. Sueoka, I. Sasagawa, A. Nakabayashi, Y. Yoshimura, T. Ogata. Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibility to dioxins. Fertil. Steril. 82, 1067-1071, 2004

Yoshida R, Nagai T, Hasegawa T, Kinoshita E, Tanaka T, Ogata T. Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. American Journal of Medical Genetics A 130, 432-434, 2004

T. Hasegawa, M. Fukami, N. Sato, G. Sasaki, K. Fukutani, K. Morohashi, T. Ogata. Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. J. Clin. Endocrinol. Metab. 89, 5930-5935, 2004

Ogata T, Fukami M. Clinical features in SHOX haploinsufficiency: diagnostic and therapeutic implications. Growth, Genetics & Hormones 20, 17-23, 2004