Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Wyszukujesz frazę ""Dattani MT"" wg kryterium: Autor


Wyświetlanie 1-20 z 20
Tytuł:
Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.
Autorzy:
Backeljauw PF; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA. .
Andrews M; The Major Aspects of Growth in Children (MAGIC) Foundation, Warrenville, IL, USA.; The MAGIC Foundation International Coalition for Organizations Supporting Endocrine Patients (MAGIC-ICOSEP), Atlanta, GA, USA.
Bang P; Division of Children's and Women's Health, Department of Biomedical and Clinical Sciences (BKV), Faculty of Health Sciences, Linköping University, Linköping, Sweden.
Dalle Molle L; Caregiver Representative, Cincinnati, OH, USA.
Deal CL; Université de Montréal, Montréal, QC, Canada.; Centre Hospitalier Universitaire (CHU) Sainte-Justine, Montréal, QC, Canada.
Harvey J; The Major Aspects of Growth in Children (MAGIC) Foundation, Warrenville, IL, USA.; The MAGIC Foundation International Coalition for Organizations Supporting Endocrine Patients (MAGIC-ICOSEP), Atlanta, GA, USA.
Langham S; Paediatric Endocrinology, Great Ormond Street Hospital UCL Hospitals, London, UK.
Petriczko E; Department of Paediatrics, Endocrinology, Diabetology, Metabolic Disorders, and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
Polak M; Department of Pediatric Endocrinology, Gynecology and Diabetology, Hôpital Universitaire Necker Enfants Malades, Assistance Publique Hôpitaux de Paris, Université Paris Cité, Paris, France.
Storr HL; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Dattani MT; Paediatric Endocrinology, Great Ormond Street Hospital UCL Hospitals, London, UK. m.dattani@ucl.ac.uk.; UCL Great Ormond Street Institute of Child Health, London, UK. m.dattani@ucl.ac.uk.; Adolescent Endocrinology, UCL Hospitals, London, UK. m.dattani@ucl.ac.uk.
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 07; Vol. 18 (1), pp. 312. Date of Electronic Publication: 2023 Oct 07.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Laron Syndrome*/diagnosis
Laron Syndrome*/drug therapy
Laron Syndrome*/genetics
Dwarfism*/drug therapy
Humans ; Insulin-Like Growth Factor I/therapeutic use ; Quality of Life ; Growth Disorders
Czasopismo naukowe
Tytuł:
Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre.
Autorzy:
Güemes M; London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.; Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, UCL Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK.
Murray PG; London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.
Brain CE; London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.
Spoudeas HA; London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.
Peters CJ; London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.
Hindmarsh PC; London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.; Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, UCL Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK.
Dattani MT; London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK. m.dattani@ucl.ac.uk.; Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, UCL Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK. m.dattani@ucl.ac.uk.
Pokaż więcej
Źródło:
European journal of pediatrics [Eur J Pediatr] 2016 Jul; Vol. 175 (7), pp. 967-76. Date of Electronic Publication: 2016 May 12.
Typ publikacji:
Journal Article
MeSH Terms:
Cushing Syndrome/*diagnosis
Glucocorticoids/*therapeutic use
Adolescent ; Child ; Child, Preschool ; Cushing Syndrome/therapy ; Female ; Humans ; Infant ; Longitudinal Studies ; Male ; Retrospective Studies
Czasopismo naukowe
Tytuł:
Reduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment.
Autorzy:
Webb EA; Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London, United Kingdom.
O'Reilly MA
Clayden JD
Seunarine KK
Dale N
Salt A
Clark CA
Dattani MT
Pokaż więcej
Źródło:
PloS one [PLoS One] 2013; Vol. 8 (3), pp. e59048. Date of Electronic Publication: 2013 Mar 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Brain/*pathology
Child Behavior Disorders/*complications
Optic Nerve/*pathology
Vision Disorders/*complications
Vision Disorders/*pathology
Brain/physiopathology ; Case-Control Studies ; Child ; Child, Preschool ; Corpus Callosum/pathology ; Diffusion Tensor Imaging ; Female ; Functional Neuroimaging ; Humans ; Infant ; Magnetic Resonance Imaging ; Male
Czasopismo naukowe
Tytuł:
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Autorzy:
Sun Y; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Bak B
Schoenmakers N
van Trotsenburg AS
Oostdijk W
Voshol P
Cambridge E
White JK
le Tissier P
Gharavy SN
Martinez-Barbera JP
Stokvis-Brantsma WH
Vulsma T
Kempers MJ
Persani L
Campi I
Bonomi M
Beck-Peccoz P
Zhu H
Davis TM
Hokken-Koelega AC
Del Blanco DG
Rangasami JJ
Ruivenkamp CA
Laros JF
Kriek M
Kant SG
Bosch CA
Biermasz NR
Appelman-Dijkstra NM
Corssmit EP
Hovens GC
Pereira AM
den Dunnen JT
Wade MG
Breuning MH
Hennekam RC
Chatterjee K
Dattani MT
Wit JM
Bernard DJ
Pokaż więcej
Źródło:
Nature genetics [Nat Genet] 2012 Dec; Vol. 44 (12), pp. 1375-81. Date of Electronic Publication: 2012 Nov 11.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Congenital Hypothyroidism/*genetics
Genetic Diseases, X-Linked/*genetics
Immunoglobulins/*genetics
Membrane Proteins/*genetics
Testicular Diseases/*genetics
Adolescent ; Adult ; Aged ; Animals ; Base Sequence ; Child ; Child, Preschool ; Exome ; Ferrous Compounds ; Humans ; Infant ; Male ; Metallocenes ; Mice ; Middle Aged ; Pituitary Gland/metabolism ; Pituitary Gland/pathology ; Prolactin/blood ; Receptors, Thyrotropin-Releasing Hormone/biosynthesis ; Sequence Analysis, DNA ; Syndrome ; Testis/anatomy & histology ; Testis/pathology ; Thyrotropin/blood ; Triiodothyronine/analysis ; Young Adult
Czasopismo naukowe
Tytuł:
Septo-optic dysplasia.
Autorzy:
Webb EA; Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.
Dattani MT
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2010 Apr; Vol. 18 (4), pp. 393-7. Date of Electronic Publication: 2009 Jul 22.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Septo-Optic Dysplasia*/diagnosis
Septo-Optic Dysplasia*/genetics
Septo-Optic Dysplasia*/therapy
Humans
Czasopismo naukowe
Tytuł:
The role of SOX2 in hypogonadotropic hypogonadism.
Autorzy:
Tziaferi V; Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UK.
Kelberman D
Dattani MT
Pokaż więcej
Źródło:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2008; Vol. 2 (4-5), pp. 194-9. Date of Electronic Publication: 2008 Nov 05.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Hypogonadism/*genetics
SOXB1 Transcription Factors/*genetics
Animals ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Hypogonadism/physiopathology ; Male ; Mice ; SOXB1 Transcription Factors/physiology
Czasopismo naukowe
    Wyświetlanie 1-20 z 20

    Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies