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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients
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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Kagami, Masayo ; Nagasaki, Keisuke ; Kosaki, Rika ; Horikawa, Reiko ; Naiki, Yasuhiro ; Saitoh, Shinji ; Tajima, Toshihiro ; Yorifuji, Tohru ; Numakura, Chikahiko ; Mizuno, Seiji ; Nakamura, Akie ; Matsubara, Keiko ; Fukami, Maki ; Ogata, Tsutomu

Genetics in medicine, 2017-12, Vol.19 (12), p.1356-1366 [Periódico revisado por pares]

Nature Publishing Group

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2
The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome
The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome
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The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome

Juriaans, Alicia F. ; Trueba-Timmermans, Demi J. ; Kerkhof, Gerthe F. ; Grootjen, Lionne N. ; Walet, Sylvia ; Sas, Theo C.J. ; Rotteveel, Joost ; Zwaveling-Soonawala, Nitash ; Verrijn Stuart, Annemarie A. ; Hokken-Koelega, Anita C.S.

Hormone research in paediatrics, 2023-10, Vol.96 (5), p.483-494 [Periódico revisado por pares]

Basel, Switzerland

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3
A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus
A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus
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A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus

Iwanishi, Masanori ; Yorifuji, Tohru ; Yamamoto, Yukako ; Ito-Kobayashi, Jun ; Shimatsu, Akira ; Kikugawa, Shingo ; Kagami, Masayo

Internal Medicine, 2024, pp.2743-23 [Periódico revisado por pares]

Japan: The Japanese Society of Internal Medicine

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4
The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature
The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature
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The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature

Juriaans, Alicia F ; Kerkhof, Gerthe F ; Hokken-Koelega, Anita C S

Endocrine reviews, 2022-02, Vol.43 (1), p.1-18 [Periódico revisado por pares]

United States: Oxford University Press

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5
Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity
Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity
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Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity

Abawi, Ozair ; Koster, Emma C. ; Welling, Mila S. ; Boeters, Sanne C.M. ; van Rossum, Elisabeth F. C. ; van Haelst, Mieke M. ; van der Voorn, Bibian ; de Groot, Cornelis J. ; van den Akker, Erica L. T.

Frontiers in endocrinology (Lausanne), 2022-07, Vol.13, p.862817 [Periódico revisado por pares]

Frontiers Media S.A

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6
Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family
Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family
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Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family

Hu, Junjie ; Zhang, Ying ; Yang, Yanmei ; Wang, Liya ; Sun, Yixi ; Dong, Minyue

Frontiers in genetics, 2022-08, Vol.13 [Periódico revisado por pares]

Frontiers Media S.A

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7
Deficiency and overexpression of Rtl1 in the mouse cause distinct muscle abnormalities related to Temple and Kagami-Ogata syndromes
Deficiency and overexpression of Rtl1 in the mouse cause distinct muscle abnormalities related to Temple and Kagami-Ogata syndromes
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Deficiency and overexpression of Rtl1 in the mouse cause distinct muscle abnormalities related to Temple and Kagami-Ogata syndromes

Kitazawa, Moe ; Hayashi, Shinichiro ; Imamura, Michihiro ; Takeda, Shin'ichi ; Oishi, Yumiko ; Kaneko-Ishino, Tomoko ; Ishino, Fumitoshi Wallingford, John ; Dunwoodie, Sally

Development (Cambridge), 2020-11, Vol.147 (21) [Periódico revisado por pares]

England: The Company of Biologists Ltd

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8
Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low‐level mosaicism for trisomy 14
Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low‐level mosaicism for trisomy 14
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Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low‐level mosaicism for trisomy 14

Lindgren, Valerie ; Cobian, Katherine ; Bhat, Gifty

American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1538-1543 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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9
UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome
UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome
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UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome

Garza-Mayén, G. ; Ulloa-Avilés, V. ; Villarroel, C.E. ; Navarrete-Meneses, P. ; Lieberman-Hernández, E. ; Abreu-González, M. ; Márquez-Quiroz, L. ; Azotla-Vilchis, C. ; Cifuentes-Goches, J.C. ; Del Castillo-Ruiz, V. ; Durán-McKinster, C. ; Pérez-Vera, P. ; Salas-Labadía, C.

European journal of medical genetics, 2021-05, Vol.64 (5), p.104199-104199, Article 104199 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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10
Molecular and clinical studies in 8 patients with Temple syndrome
Molecular and clinical studies in 8 patients with Temple syndrome
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Molecular and clinical studies in 8 patients with Temple syndrome

Gillessen‐Kaesbach, G. ; Albrecht, B. ; Eggermann, T. ; Elbracht, M. ; Mitter, D. ; Morlot, S. ; van Ravenswaaij‐Arts, C.M.A. ; Schulz, S. ; Strobl‐Wildemann, G. ; Buiting, K. ; Beygo, J.

Clinical genetics, 2018-06, Vol.93 (6), p.1179-1188 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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