Búsqueda | Portal de Búsqueda de la BVS

1.

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

Miyake, N; Tsurusaki, Y; Koshimizu, E; Okamoto, N; Kosho, T; Brown, N J; Tan, T Y; Yap, P J J; Suzumura, H; Tanaka, T; Nagai, T; Nakashima, M; Saitsu, H; Niikawa, N; Matsumoto, N.

Clin Genet ; 89(1): 115-9, 2016 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-25810209

2.

Early-Onset Inflammatory Bowel Disease Caused by Mutations in the X-Linked Gene IL2RG.

Ogawa, A; Watanabe, T; Natsume, T; Okura, E; Saito, S; Kato, S; Nakayama, Y; Furukawa, S; Yamaguchi, T; Kosho, T; Uehara, T; Kobayashi, N; Agematsu, K; Nakazawa, Y; Shigemura, T.

J Investig Allergol Clin Immunol ; 31(1): 69-71, 2021 Feb 17.

Artículo en Inglés | MEDLINE | ID: mdl-32490820

3.

A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.

Higashimoto, K; Jozaki, K; Kosho, T; Matsubara, K; Fuke, T; Yamada, D; Yatsuki, H; Maeda, T; Ohtsuka, Y; Nishioka, K; Joh, K; Koseki, H; Ogata, T; Soejima, H.

Clin Genet ; 86(6): 539-44, 2014 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-24299031

4.

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.

Tsurusaki, Y; Kosho, T; Hatasaki, K; Narumi, Y; Wakui, K; Fukushima, Y; Doi, H; Saitsu, H; Miyake, N; Matsumoto, N.

Clin Genet ; 83(2): 135-44, 2013 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-22548404

5.

Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.

Shimaoka, Y; Kosho, T; Wataya-Kaneda, M; Funakoshi, M; Suzuki, T; Hayashi, S; Mitsuhashi, Y; Isei, T; Aoki, Y; Yamazaki, K; Ono, M; Makino, K; Tanaka, T; Kunii, E; Hatamochi, A.

Br J Dermatol ; 163(4): 704-10, 2010 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-20518783

6.

Early-Onset Inflammatory Bowel Disease Caused by Mutations in the X-Linked Gene IL2RG

Ogawa, A; Watanabe, T; Natsume, T; Okura, E; Saito, S; Kato, S; Nakayama, Y; Furukawa, S; Yamaguchi, T; Kosho, T; Uehara, T; Kobayashi, N; Agematsu, K; Nakazawa, Y; Shigemura, T.

J. investig. allergol. clin. immunol ; 31(1): 69-71, 2021. ilus

Artículo en Inglés | IBECS (España) | ID: ibc-202259

7.

"Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes.

Kosho, T; Matsushima, K; Sahashi, T; Mitsui, N; Fukushima, Y; Sobajima, H; Ohashi, H.

Genet Couns ; 16(1): 65-70, 2005.

Artículo en Inglés | MEDLINE | ID: mdl-15844781

8.

Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.

Ogata, T; Kosho, T; Wakui, K; Fukushima, Y; Yoshimoto, M; Miharu, N.

J Clin Endocrinol Metab ; 85(8): 2927-30, 2000 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-10946905

9.

Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.

Kosho, T; Muroya, K; Nagai, T; Fujimoto, M; Yokoya, S; Sakamoto, H; Hirano, T; Terasaki, H; Ohashi, H; Nishimura, G; Sato, S; Matsuo, N; Ogata, T.

J Clin Endocrinol Metab ; 84(12): 4613-21, 1999 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-10599728

10.

Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.

Ogata, T; Wakui, K; Kosho, T; Muroya, K; Yamanouchi, Y; Takano, T; Fukushima, Y; Rappold, G; Suzuki, Y.

Am J Med Genet ; 92(4): 256-9, 2000 Jun 05.

Artículo en Inglés | MEDLINE | ID: mdl-10842291

11.

Refined mapping of the gene for otopalatodigital syndrome type I.

Kosho, T; Uemura, T; Tanimura, M; Ohashi, H; Muroya, K; Ogata, T.

J Med Genet ; 39(2): E7, 2002 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-11836376

12.

Female carriers of Xp22.3 deletion including MRX locus.

Muroya, K; Kosho, T; Ogata, T; Matsuo, M.

Am J Med Genet ; 84(4): 384-5, 1999 Jun 04.

Artículo en Inglés | MEDLINE | ID: mdl-10340659

13.

A case of neonatal-onset carbamoyl-phosphate synthase I deficiency treated by continuous haemodiafiltration.

Kosho, T; Nakamura, T; Kaneko, T; Tamura, M.

Eur J Pediatr ; 159(8): 629-30, 2000 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-10968246

14.

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

Ogata, T; Muroya, K; Sasagawa, I; Kosho, T; Wakui, K; Sakazume, S; Ito, K; Matsuo, N; Ohashi, H; Nagai, T.

Kidney Int ; 58(6): 2281-90, 2000 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-11115062

15.

[Skeletal dysplasia, 3-M type].

Kosho, T.

Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 649-50, 2001.

Artículo en Japonés | MEDLINE | ID: mdl-11528945

16.

[Skeletal dysplasia, boomerang dysplasia].

Kosho, T.

Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 651-2, 2001.

Artículo en Japonés | MEDLINE | ID: mdl-11528947

17.

[Skeletal dysplasia, de la Chapelle type].

Kosho, T.

Ryoikibetsu Shokogun Shirizu ; (34 Pt 2): 653-4, 2001.

Artículo en Japonés | MEDLINE | ID: mdl-11528948

18.

[Encephalocele].

Kosho, T.

Ryoikibetsu Shokogun Shirizu ; (33): 625-6, 2001.

Artículo en Japonés | MEDLINE | ID: mdl-11462600

19.

[Encephalocraniocutaneous lipomatosis].

Kosho, T.

Ryoikibetsu Shokogun Shirizu ; (33): 627-8, 2001.

Artículo en Japonés | MEDLINE | ID: mdl-11462601

20.

[Enchondromatosis (Ollier disease)].

Kosho, T.

Ryoikibetsu Shokogun Shirizu ; (33): 631-2, 2001.

Artículo en Japonés | MEDLINE | ID: mdl-11462603

Portal de Búsqueda de la BVS

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar:

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

Early-Onset Inflammatory Bowel Disease Caused by Mutations in the X-Linked Gene IL2RG.

A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.

Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.

Early-Onset Inflammatory Bowel Disease Caused by Mutations in the X-Linked Gene IL2RG

"Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes.

Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.

Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.

Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation.

Refined mapping of the gene for otopalatodigital syndrome type I.

Female carriers of Xp22.3 deletion including MRX locus.

A case of neonatal-onset carbamoyl-phosphate synthase I deficiency treated by continuous haemodiafiltration.

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

[Skeletal dysplasia, 3-M type].

[Skeletal dysplasia, boomerang dysplasia].

[Skeletal dysplasia, de la Chapelle type].

[Encephalocele].

[Encephalocraniocutaneous lipomatosis].

[Enchondromatosis (Ollier disease)].