Zobrazeno 1 - 10
of 2 045
pro vyhledávání: '"SILVER-Russell syndrome"'
Autor:
Gaudioso F; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy., Meossi C; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy. Camilla.meossi@fsm.unipi.it.; Unità di Genetica medica, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Via della Commenda, 9, Milano, 20122, Italy. Camilla.meossi@fsm.unipi.it.; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy. Camilla.meossi@fsm.unipi.it., Pezzani L; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy.; Paediatric Unit, ASST Papa Giovanni XXIII, Bergamo, 24127, Italy., Grilli F; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy., Silipigni R; Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Russo S; Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, Milano, 20145, Italy., Masciadri M; Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, Milano, 20145, Italy., Vimercati A; Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, Milano, 20145, Italy., Marchisio PG; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milano, Italy., Bedeschi MF; Clinical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, 20122, Italy.
Publikováno v:
Italian journal of pediatrics [Ital J Pediatr] 2024 Sep 27; Vol. 50 (1), pp. 192. Date of Electronic Publication: 2024 Sep 27.
Autor:
Kurup U; Centre for Endocrinology, William Harvey Research Institute (WHRI), Charterhouse Square, Barts and the London School of Medicine, London EC1M 6BQ, UK., Lim DBN; Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK., Palau H; Centre for Endocrinology, William Harvey Research Institute (WHRI), Charterhouse Square, Barts and the London School of Medicine, London EC1M 6BQ, UK., Maharaj AV; Centre for Endocrinology, William Harvey Research Institute (WHRI), Charterhouse Square, Barts and the London School of Medicine, London EC1M 6BQ, UK., Ishida M; Centre for Endocrinology, William Harvey Research Institute (WHRI), Charterhouse Square, Barts and the London School of Medicine, London EC1M 6BQ, UK., Davies JH; Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.; Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK., Storr HL; Centre for Endocrinology, William Harvey Research Institute (WHRI), Charterhouse Square, Barts and the London School of Medicine, London EC1M 6BQ, UK.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Sep 16; Vol. 109 (10), pp. e1889-e1901.
Autor:
Lokulo-Sodipe O; Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; Regional Paediatric Endocrinology Service, University Southampton Hospitals NHS Foundation Trust, Southampton, SO16 6YD, UK., Inskip HM; Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; MRC Epidemiology Unit, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, SO16 6YD, UK., Byrne CD; Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, SO16 6YD, UK., Child J; Child Growth Foundation, c/o Kinnair Associates Limited, Aston House, Newcastle, NE5 1NB, UK (affiliation at the time of this work)., Wakeling EL; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK., Mackay DJG; Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK., Temple IK; Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; The Wessex Clinical Genetics Service, University Hospitals Southampton NHS Foundation Trust, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK., Davies JH; Department of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.; Regional Paediatric Endocrinology Service, University Southampton Hospitals NHS Foundation Trust, Southampton, SO16 6YD, UK.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Oct 15; Vol. 109 (11), pp. e2001-e2008.
Autor:
Ye M; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Reyes Palomares A; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden., Iwarsson E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Oberg AS; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Rodriguez-Wallberg KA; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Division of Gynecology and Reproduction, Department of Reproductive Medicine, Karolinska University Hospital, Stockholm, Sweden. Electronic address: kenny.rodriguez-wallberg@ki.se.
Publikováno v:
Fertility and sterility [Fertil Steril] 2024 Oct; Vol. 122 (4), pp. 706-714. Date of Electronic Publication: 2024 Jun 01.
Autor:
Bourousis E; Child's & Adolescent's Development and Endocrinology Unit, Athens General Children's Hospital 'P. & A. Kyriakou', Athens, Greece. vbourousis@gmail.com., Xatzipsalti M; Child's & Adolescent's Development and Endocrinology Unit, Athens General Children's Hospital 'P. & A. Kyriakou', Athens, Greece., Polychroni I; Private Endocrinology Unit, Athens, Greece., Kanavakis E; Genesis Genoma' Lab, Private Clinical Genetics Lab, Athens, Greece., Stamoyannou L; Special Child's & Adolescent's Development and Endocrinology Unit, 'IASO' Children's Private Hospital, Athens, Greece.
Publikováno v:
Hormones (Athens, Greece) [Hormones (Athens)] 2024 Sep; Vol. 23 (3), pp. 591-593. Date of Electronic Publication: 2024 May 24.
Autor:
Urakawa T; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan.; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8102, Japan., Soejima H; Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-0937, Japan., Yamoto K; Department of Biochemistry, Hamamatsu University School of Medicine, 1‑20‑1 Handayama, Higashi‑ku, Hamamatsu, 431‑3192, Japan., Hara-Isono K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Nakamura A; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Kawashima S; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Narusawa H; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Kosaki R; Department of Medical Genetics, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Nishimura Y; Department of Neonatology, Hiroshima City Hiroshima Citizens Hospital, 7-33 Motomachi, Naka-Ku, Hiroshima, 730-8518, Japan., Yamazawa K; Medical Genetics Center, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan., Hattori T; Department of Pediatrics, Anjo Kosei Hospital, 28 Higashihirokute, Anjo, 446-8602, Japan., Muramatsu Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-Cho, Shouwa‑ku, Nagoya, 466‑8560, Japan., Inoue T; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan.; Center for Medical Genetics, Chiba Children's Hospital, 579-1 Heta, Midori-Ku, Chiba, 266-0007, Japan., Matsubara K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan.; Division of Diversity Research, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan., Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan., Ogata T; Department of Biochemistry, Hamamatsu University School of Medicine, 1‑20‑1 Handayama, Higashi‑ku, Hamamatsu, 431‑3192, Japan.; Department of Pediatrics, Hamamatsu Medical Center, 328 Tomizuka-Cho, Chuo-Ku, Hamamatsu, 432-8580, Japan., Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan. kagami-ms@ncchd.go.jp.
Publikováno v:
Clinical epigenetics [Clin Epigenetics] 2024 Oct 05; Vol. 16 (1), pp. 138. Date of Electronic Publication: 2024 Oct 05.
Autor:
Urzua A; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo.; Current affiliation: Laboratorio de Biología Molecular y Citogenética, Pontificia Universidad Católica de Chile, Santiago, Chile., Catena S; Jackson Memorial Hospital, University of Miami, USA., Morales P; Laboratorio de Citogenética y Genética Molecular, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile., Lay-Son G; Hospital Padre Hurtado.; Unidad de Genética y Enfermedades Metabólicas, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Publikováno v:
Clinical dysmorphology [Clin Dysmorphol] 2024 Jul 01; Vol. 33 (3), pp. 105-109. Date of Electronic Publication: 2024 May 29.
Autor:
Yamoto K; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1, Handayama, Chuo-ku, Hamamatsu, 431-3192, Japan.; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan., Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1, Handayama, Chuo-ku, Hamamatsu, 431-3192, Japan., Ohkubo Y; Department of Pediatrics, Shizuoka Saiseikai Hospital, Shizuoka, Japan., Kagami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Ogata T; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1, Handayama, Chuo-ku, Hamamatsu, 431-3192, Japan. tomogata@hama-med.ac.jp.; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan. tomogata@hama-med.ac.jp.; Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu, Japan. tomogata@hama-med.ac.jp.
Publikováno v:
Clinical epigenetics [Clin Epigenetics] 2024 Jun 05; Vol. 16 (1), pp. 73. Date of Electronic Publication: 2024 Jun 05.
Autor:
Ventresca S; Pediatric Section, University Hospital Arcispedale Sant'Anna, University of Ferrara, Ferrara, Italy.; Endocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy., Lepri FR; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy., Criscuolo S; Endocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy.; Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy., Bottaro G; Endocrinology and Diabetology Unit, Pediatric University Department, Bambino Gesù Children's Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, Rome, Italy., Loche S; Research Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cappa M; Research Area for Innovative Therapies in Endocrinopathies, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Publikováno v:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Mar 26; Vol. 15, pp. 1364234. Date of Electronic Publication: 2024 Mar 26 (Print Publication: 2024).
Autor:
Paglia M; Department of Maternal and Paediatric dentistry, Italian Stomatological Institute, Milan, Italy., Braiotta F; Department of Maternal and Paediatric dentistry, Italian Stomatological Institute, Milan, Italy., Quinzi V; Assistant Professor, Department of life, Health and Environmental Sciences University of L ́Aquila, Italy.
Publikováno v:
European journal of paediatric dentistry [Eur J Paediatr Dent] 2024 Mar 01; Vol. 25 (1), pp. 69-71. Date of Electronic Publication: 2024 Feb 01.