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Wyszukujesz frazę ""Turner syndrome"" wg kryterium: Temat


Starter badań:

Tytuł:
Risk assessment for aortic dissection in Turner syndrome: The role of the aortic growth rate.
Autorzy:
Calanchini M; Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford University Hospitals NHS Trust, Oxford, UK.; Department of Systems Medicine, Endocrinology & Metabolism Unit, University of Rome Tor Vergata, Rome, Italy.
Bradley-Watson J; ACHD Cardiology, Oxford University Hospitals NHS Trust, Oxford, UK.
McMillan F; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, Centre for Clinical Magnetic Resonance Research, University of Oxford, Oxford, UK.
Myerson S; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, Centre for Clinical Magnetic Resonance Research, University of Oxford, Oxford, UK.
Fabbri A; Department of Systems Medicine, Endocrinology & Metabolism Unit, University of Rome Tor Vergata, Rome, Italy.
Turner HE; Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford University Hospitals NHS Trust, Oxford, UK.
Orchard E; ACHD Cardiology, Oxford University Hospitals NHS Trust, Oxford, UK.
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Źródło:
Clinical endocrinology [Clin Endocrinol (Oxf)] 2024 Mar; Vol. 100 (3), pp. 269-276. Date of Electronic Publication: 2024 Jan 12.
Typ publikacji:
Journal Article
MeSH Terms:
Turner Syndrome*/complications
Turner Syndrome*/epidemiology
Aortic Dissection*
Aortic Diseases*/complications
Aortic Diseases*/epidemiology
Adult ; Female ; Humans ; Adolescent ; Young Adult ; Retrospective Studies ; Risk Assessment
Czasopismo naukowe
Tytuł:
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
Autorzy:
Alkhunaizi E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Albrecht JP; Cancer Risk and Prevention Clinic, Outpatient Care, Maine Health, Portland, Maine, USA.
Aarabi M; UPMC Medical Genetics & Genomics Laboratories, UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania, USA.; Departments of Pathology, and Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Witchel SF; Division of Endocrinology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Wherrett D; Division of Endocrinology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Babul-Hirji R; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Dupuis A; Department of Biostatistics, University of Toronto, Toronto, Ontario, Canada.
Chiniara L; Department of Pediatrics, Division of Endocrinology, CHU Sainte-Justine and University of Montreal, Montreal, Quebec, Canada.
Chater-Diehl E; Department of Pediatric Laboratory Medicine, Cytogenomics Laboratory, Cytogenomics and Genome Resources Facility, The Hospital for Sick Children, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Shago M; Department of Pediatric Laboratory Medicine, Cytogenomics Laboratory, Cytogenomics and Genome Resources Facility, The Hospital for Sick Children, Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Shuman C; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Rajkovic A; Department of Pathology, and Department of Obstetrics, Gynecology and Reproductive Sciences, University of California San Francisco, San Francisco, California, USA.; Institute of Human Genetics, University of California San Francisco, San Francisco, California, USA.
Yatsenko SA; UPMC Medical Genetics & Genomics Laboratories, UPMC Magee-Womens Hospital, Pittsburgh, Pennsylvania, USA.; Departments of Pathology, and Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.; Magee-Womens Research Institute, Pittsburgh, Pennsylvania, USA.
Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63451. Date of Electronic Publication: 2023 Oct 26.
Typ publikacji:
Journal Article
MeSH Terms:
Turner Syndrome*/diagnosis
Turner Syndrome*/genetics
Gonadal Dysgenesis, Mixed*/genetics
Neoplasms*
Child ; Humans ; Male ; Female ; Mosaicism ; Follow-Up Studies ; Retrospective Studies ; Phenotype
Czasopismo naukowe
Tytuł:
Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome.
Autorzy:
Wang G; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
Liu X; Department of Endocrinology, Genetics and Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
Wang M; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
Wang J; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
Zhang Z; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
Allegaert K; Department of Development and Regeneration, KU Leuven, Leuven, Belgium.; Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium.; Department of Hospital Pharmacy, Erasmus MC, Rotterdam, Netherlands.
Mei D; Department of Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan, China.
Zhang Y; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
Luo S; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
Fang Y; Department of Laboratory Medicine, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Li D; Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
Chen Y; Department of Endocrinology, Genetics and Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
Wei H; Department of Endocrinology, Genetics and Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
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Źródło:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Feb 28; Vol. 15, pp. 1324160. Date of Electronic Publication: 2024 Feb 28 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Turner Syndrome*/complications
Turner Syndrome*/epidemiology
Turner Syndrome*/genetics
Kidney Diseases*/genetics
Child ; Humans ; Chromosome Deletion ; In Situ Hybridization, Fluorescence ; Chromosomes, Human, X/genetics ; Karyotyping
Czasopismo naukowe
Tytuł:
Lichen sclerosus associated with Turner syndrome treated with photodynamic therapy: A case report.
Autorzy:
Wang Y; Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Clinical Research Center for Dermatologic and Immunologic Diseases, Center for Translational Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Liu J; Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, National Clinical Research Center for Dermatologic and Immunologic Diseases, Center for Translational Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China. Electronic address: .
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Źródło:
Photodiagnosis and photodynamic therapy [Photodiagnosis Photodyn Ther] 2024 Feb; Vol. 45, pp. 103932. Date of Electronic Publication: 2023 Dec 12.
Typ publikacji:
Case Reports
MeSH Terms:
Lichen Sclerosus et Atrophicus*
Turner Syndrome*/complications
Turner Syndrome*/diagnosis
Turner Syndrome*/drug therapy
Vitiligo*
Photochemotherapy*/methods
Humans ; Female ; Child ; Photosensitizing Agents/therapeutic use
Raport
Tytuł:
Working towards risk stratification for ascending aortic dilatation in pediatric Turner syndrome patients: results of a longitudinal echocardiographical observation.
Autorzy:
Heno J; Department of Pediatric Cardiology, Pediatric Heart Center Vienna, University Hospital for Children and Adolescent Medicine, Medical University Vienna, Waehringer Guertel 18-20, A - 1090, Vienna/Wien, Austria. .
Michel-Behnke I; Department of Pediatric Cardiology, Pediatric Heart Center Vienna, University Hospital for Children and Adolescent Medicine, Medical University Vienna, Waehringer Guertel 18-20, A - 1090, Vienna/Wien, Austria.
Pees C; Department of Pediatric Cardiology, Pediatric Heart Center Vienna, University Hospital for Children and Adolescent Medicine, Medical University Vienna, Waehringer Guertel 18-20, A - 1090, Vienna/Wien, Austria.
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Źródło:
European journal of pediatrics [Eur J Pediatr] 2024 Feb; Vol. 183 (2), pp. 799-807. Date of Electronic Publication: 2023 Nov 27.
Typ publikacji:
Journal Article
MeSH Terms:
Turner Syndrome*/complications
Turner Syndrome*/epidemiology
Aortic Diseases*/diagnostic imaging
Aortic Diseases*/etiology
Aortic Diseases*/pathology
Bicuspid Aortic Valve Disease*/pathology
Adolescent ; Child ; Humans ; Infant, Newborn ; Infant ; Child, Preschool ; Young Adult ; Adult ; Aortic Valve/pathology ; Dilatation ; Dilatation, Pathologic/diagnostic imaging ; Dilatation, Pathologic/etiology ; Monosomy/pathology ; Risk Assessment ; Retrospective Studies
Czasopismo naukowe
Tytuł:
Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry.
Autorzy:
Kanakatti Shankar R; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; Division of Endocrinology, Children's National Hospital, Washington, District of Columbia, USA.
Carl A; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; eXtraOrdinary Kids Turner Syndrome Clinic, Children's Hospital of Colorado, Aurora, Colorado, USA.
Law JR; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; Division of Pediatric Endocrinology, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Bamba V; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; Division of Endocrinology, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Brickman WJ; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; Division of Endocrinology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
Prakash SK; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, Texas, USA.
Dowlut McElroy T; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; Pediatric and Adolescent Gynecology, Department of Surgery, Children's Mercy, Kansas City, Missouri, USA.
Howell S; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; eXtraOrdinary Kids Turner Syndrome Clinic, Children's Hospital of Colorado, Aurora, Colorado, USA.
Gutmark Little I; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Klein KO; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; University of California San Diego, Rady Children's Hospital, San Diego, California, USA.
Pinnaro CT; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; Division of Endocrinology and Diabetes, Stead Family Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA.
Ranallo K; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; Turner Syndrome Global Alliance, Overland Park, Kansas, USA.
Good M; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; Turner Syndrome Global Alliance, Overland Park, Kansas, USA.
Davis SM; Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium, USA.; eXtraOrdinary Kids Turner Syndrome Clinic, Children's Hospital of Colorado, Aurora, Colorado, USA.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 311-319. Date of Electronic Publication: 2023 Oct 12.
Typ publikacji:
Multicenter Study; Journal Article
MeSH Terms:
Turner Syndrome*/diagnosis
Turner Syndrome*/epidemiology
Turner Syndrome*/therapy
Humans ; Quality of Life ; Delivery of Health Care ; Registries ; Patient Acceptance of Health Care
Czasopismo naukowe
Tytuł:
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Autorzy:
Nriagu BN; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Williams LS; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Brewer N; Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Surrey LF; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Srinivasan AS; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Britt A; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Treat J; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Crowley TB; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
O'Connor N; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ganguly A; Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Low D; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Plastic and Reconstructive Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Queenan M; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Drivas TG; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Adams DM; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Snyder KM; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Sheppard SE; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 64-69. Date of Electronic Publication: 2023 Sep 13.
Typ publikacji:
Case Reports
MeSH Terms:
Turner Syndrome*/complications
Turner Syndrome*/genetics
Lymphatic Abnormalities*/genetics
Vascular Malformations*/complications
Vascular Malformations*/genetics
Cardiovascular Abnormalities*
Humans ; Mosaicism ; Class I Phosphatidylinositol 3-Kinases/genetics
Raport
Tytuł:
The impact of amplification on quality of life in women with Turner syndrome.
Autorzy:
Mann L; University of Kansas Medical Center, 3901 Rainbow Blvd MS 3047, 66160, Kansas City, KS, USA. .
VanLooy L; University of North Carolina Hospitals, Chapel Hill, NC, USA.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 13; Vol. 19 (1), pp. 119. Date of Electronic Publication: 2024 Mar 13.
Typ publikacji:
Journal Article
MeSH Terms:
Turner Syndrome*
Hearing Loss*
Deafness*
Adult ; Humans ; Female ; Quality of Life ; Cross-Sectional Studies ; Prospective Studies
Czasopismo naukowe
Tytuł:
Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry.
Autorzy:
Mansoorshahi S; Department of Internal Medicine, John P. and Katherine G. McGovern Medical School, University of Texas Health Science Center at Houston, 6431 Fannin Street, MSB 6.116, Houston, TX, 77030, USA.
Scurlock C; Turner Syndrome Society of the United States, 11250 West Rd, Suite G, Houston, TX, 77065, USA.
Research Registry SABOTTSSOTUS; Turner Syndrome Society of the United States, 11250 West Rd, Suite G, Houston, TX, 77065, USA.
Prakash SK; Department of Internal Medicine, John P. and Katherine G. McGovern Medical School, University of Texas Health Science Center at Houston, 6431 Fannin Street, MSB 6.116, Houston, TX, 77030, USA. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 11; Vol. 19 (1), pp. 112. Date of Electronic Publication: 2024 Mar 11.
Typ publikacji:
Journal Article
MeSH Terms:
Turner Syndrome*
Humans ; United States ; Rare Diseases ; Registries ; Surveys and Questionnaires ; Patient-Centered Care
Czasopismo naukowe
Tytuł:
Relationships among maternal monosomy X mosaicism, maternal trisomy, and discordant sex chromosome aneuploidies.
Autorzy:
Tang X; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Du Y; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Chen M; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Zhang Y; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Wang Z; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Zhang F; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Tan J; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Yin T; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China.
Wang L; Department of Prenatal Diagnosis, Lianyungang Maternal and Child Health Hospital, Lianyungang, Jiangsu 222000, People's Republic of China. Electronic address: .
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Źródło:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Feb 01; Vol. 554, pp. 117770. Date of Electronic Publication: 2024 Jan 08.
Typ publikacji:
Journal Article
MeSH Terms:
Trisomy*/diagnosis
Trisomy*/genetics
Turner Syndrome*/diagnosis
Turner Syndrome*/genetics
Sex Chromosome Disorders of Sex Development*
Female ; Humans ; Pregnancy ; Male ; Mosaicism ; DNA Copy Number Variations ; Retrospective Studies ; Sex Chromosome Aberrations ; Prenatal Diagnosis/methods ; Chromosomes, Human, X/genetics ; Aneuploidy
SCR Disease Name:
Triple X syndrome
Czasopismo naukowe
Tytuł:
Postoperative Morbidity and Interstage Hemodynamics Following Stage I Palliation in Patients with Turner Syndrome and Hypoplastic Left Heart Syndrome.
Autorzy:
Kikano S; Thomas P. Graham Jr. Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, 2200 Children's Way, Suite 5230 DOT, Nashville, TN, 37205, USA. .
Fuchs S; Thomas P. Graham Jr. Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, 2200 Children's Way, Suite 5230 DOT, Nashville, TN, 37205, USA.
Vega AC; Thomas P. Graham Jr. Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, 2200 Children's Way, Suite 5230 DOT, Nashville, TN, 37205, USA.
Kavanaugh-McHugh A; Thomas P. Graham Jr. Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, 2200 Children's Way, Suite 5230 DOT, Nashville, TN, 37205, USA.
Bichell D; Thomas P. Graham Jr. Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, 2200 Children's Way, Suite 5230 DOT, Nashville, TN, 37205, USA.
Killen SAS; Thomas P. Graham Jr. Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, 2200 Children's Way, Suite 5230 DOT, Nashville, TN, 37205, USA.
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Źródło:
Pediatric cardiology [Pediatr Cardiol] 2024 Feb; Vol. 45 (2), pp. 221-227. Date of Electronic Publication: 2023 Dec 28.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Hypoplastic Left Heart Syndrome*
Turner Syndrome*/complications
Infant, Newborn ; Humans ; Treatment Outcome ; Retrospective Studies ; Hemodynamics ; Morbidity ; Palliative Care
Czasopismo naukowe
Tytuł:
Syndrome-Specific Neuroanatomical Phenotypes in Girls With Turner and Noonan Syndromes.
Autorzy:
Siqueiros-Sanchez M; Brain Imaging, Development and Genetics Lab, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California; Division of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California.
Rai B; Brain Imaging, Development and Genetics Lab, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California; Division of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California.
Chowdhury S; Division of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California; Brain Dynamics Lab, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California.
Reiss AL; Division of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California; Department of Radiology, Stanford University School of Medicine, Stanford University, Stanford, California; Department Pediatrics, Stanford University School of Medicine, Stanford University, Stanford, California.
Green T; Brain Imaging, Development and Genetics Lab, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California; Division of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California. Electronic address: .
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Źródło:
Biological psychiatry. Cognitive neuroscience and neuroimaging [Biol Psychiatry Cogn Neurosci Neuroimaging] 2024 Feb; Vol. 9 (2), pp. 146-155. Date of Electronic Publication: 2022 Sep 07.
Typ publikacji:
Journal Article
MeSH Terms:
Noonan Syndrome*/genetics
Turner Syndrome*/genetics
Humans ; Female ; Magnetic Resonance Imaging ; Brain ; Phenotype
Czasopismo naukowe
Tytuł:
Growth Hormone Treatment to Final Height in Turner Syndrome: Systematic Review.
Autorzy:
Aversa T; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; Pediatric Unit, 'G. Martino' University Hospital, Messina, Italy.
Li Pomi A; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; Pediatric Unit, 'G. Martino' University Hospital, Messina, Italy.
Pepe G; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; Pediatric Unit, 'G. Martino' University Hospital, Messina, Italy.
Corica D; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; Pediatric Unit, 'G. Martino' University Hospital, Messina, Italy.
Messina MF; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; Pediatric Unit, 'G. Martino' University Hospital, Messina, Italy.
Coco R; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; Pediatric Unit, 'G. Martino' University Hospital, Messina, Italy.
Sippelli F; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; Pediatric Unit, 'G. Martino' University Hospital, Messina, Italy.
Ferraloro C; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; Pediatric Unit, 'G. Martino' University Hospital, Messina, Italy.
Luppino G; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; Pediatric Unit, 'G. Martino' University Hospital, Messina, Italy.
Valenzise M; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; Pediatric Unit, 'G. Martino' University Hospital, Messina, Italy.
Wasniewska MG; Department of Human Pathology of Adulthood and Childhood, University of Messina, Messina, Italy; Pediatric Unit, 'G. Martino' University Hospital, Messina, Italy. Electronic address: .
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Źródło:
Clinical therapeutics [Clin Ther] 2024 Feb; Vol. 46 (2), pp. 146-153. Date of Electronic Publication: 2023 Dec 26.
Typ publikacji:
Systematic Review; Journal Article; Review
MeSH Terms:
Human Growth Hormone*/therapeutic use
Turner Syndrome*/drug therapy
Adult ; Humans ; Female ; Body Height ; Palliative Care
Czasopismo naukowe
Tytuł:
Anti-Mullerian hormone and spontaneous puberty in a diverse US Turner syndrome clinic cohort: A cross-sectional study.
Autorzy:
Bustamante VH; Division of Endocrinology, Children's National Hospital, Washington, District of Columbia, USA.
Galetaki DM; Division of Endocrinology, Children's National Hospital, Washington, District of Columbia, USA.
Dowlut-McElroy T; Division of Gynecology, Children's National Hospital, Washington, District of Columbia, USA.
Kanakatti Shankar R; Division of Endocrinology, Children's National Hospital, Washington, District of Columbia, USA.; The George Washington University School of Medicine, Washington, District of Columbia, USA.
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Źródło:
Clinical endocrinology [Clin Endocrinol (Oxf)] 2024 Feb; Vol. 100 (2), pp. 143-148. Date of Electronic Publication: 2023 Sep 14.
Typ publikacji:
Journal Article
MeSH Terms:
Turner Syndrome*
Child ; Female ; Humans ; Anti-Mullerian Hormone ; Cross-Sectional Studies ; Gonadotropins ; Prospective Studies ; Puberty ; Retrospective Studies ; Infant ; Child, Preschool ; Adolescent ; Young Adult
Czasopismo naukowe
Tytuł:
Effects of Hormone Replacement Therapy on Bone Mineral Density in Korean Adults With Turner Syndrome.
Autorzy:
Kim S; Dream Foret Obstetrics and Gynecology, Jeju, Korea.
Kim H; Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.; Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul, Korea.
Lee I; Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul, Korea.; Department of Obstetrics and Gynecology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Choi E; Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.; Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul, Korea.
Baek J; Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.; Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul, Korea.
Lee J; Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.; Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul, Korea.
Kim HR; Department of Statistics, University of Seoul, Seoul, Korea.
Yun BH; Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.; Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul, Korea.
Choi YS; Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.; Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul, Korea.
Seo SK; Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.; Institute of Women's Life Medical Science, Yonsei University College of Medicine, Seoul, Korea. .
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Źródło:
Journal of Korean medical science [J Korean Med Sci] 2024 Jan 08; Vol. 39 (1), pp. e9. Date of Electronic Publication: 2024 Jan 08.
Typ publikacji:
Journal Article
MeSH Terms:
Turner Syndrome*/drug therapy
Adult ; Humans ; Female ; Bone Density ; Nutrition Surveys ; Retrospective Studies ; Hormone Replacement Therapy ; Chromosome Aberrations ; Republic of Korea
Czasopismo naukowe
Tytuł:
Positive non-invasive prenatal testing for Turner syndrome and low-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy associated with a favorable fetal outcome and a normal 46,XX karyotype at birth.
Autorzy:
Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_.
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Źródło:
Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Jan; Vol. 63 (1), pp. 118-119.
Typ publikacji:
Journal Article
MeSH Terms:
Amniocentesis*
Turner Syndrome*/diagnosis
Turner Syndrome*/genetics
Pregnancy ; Infant, Newborn ; Female ; Humans ; Mosaicism ; Karyotyping ; Karyotype ; Comparative Genomic Hybridization ; Trisomy
Czasopismo naukowe
Tytuł:
Growth hormone therapy is associated with improved uterine dimensions in girls with Turner syndrome prior to oestrogen replacement.
Autorzy:
Mondal S; Department of Endocrinology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.
Gargari P; Department of Endocrinology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.
Nagendra L; Department of Endocrinology, JSS Medical College and Hospital, JSS Academy of Higher Education and Research, Mysore, Karnataka, India.
Mandal S; Department of Radiology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.
Kumar RC; Department of Radiology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.
Shah P; Department of Radiology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.
Haldar M; Healthworld Hospitals, Durgapur, West Bengal, India.
Chowdhury S; Department of Endocrinology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.
Mukhopadhyay S; Department of Endocrinology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India.
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Źródło:
Clinical endocrinology [Clin Endocrinol (Oxf)] 2024 Jan; Vol. 100 (1), pp. 66-75. Date of Electronic Publication: 2023 Aug 09.
Typ publikacji:
Journal Article
MeSH Terms:
Human Growth Hormone*/therapeutic use
Turner Syndrome*/drug therapy
Female ; Humans ; Body Height ; Cross-Sectional Studies ; Estrogen Replacement Therapy ; Growth Hormone/therapeutic use ; Uterus ; Child, Preschool ; Child ; Adolescent
Czasopismo naukowe
Tytuł:
Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.
Autorzy:
Elmerdahl Frederiksen L; Childhood Cancer Research Group, Danish Cancer Society Research Center, Copenhagen, Denmark.
Ølgaard SM; Center For Fetal Diagnostics, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Roos L; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Petersen OB; Center of Fetal Medicine, Department of Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Rode L; Center of Fetal Medicine, Department of Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Hartwig T; Department of Obstetrics and Gynecology, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.
Ekelund CK; Center of Fetal Medicine, Department of Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Vogel I; Center For Fetal Diagnostics, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.; Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark.
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Corporate Authors:
Danish Central Cytogenetics Registry Study Group
Źródło:
Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2024 Feb; Vol. 103 (2), pp. 351-359. Date of Electronic Publication: 2023 Nov 20.
Typ publikacji:
Journal Article
MeSH Terms:
Down Syndrome*/epidemiology
Down Syndrome*/genetics
Down Syndrome*/diagnosis
Chromosome Disorders*/diagnosis
Chromosome Disorders*/epidemiology
Chromosome Disorders*/genetics
Turner Syndrome*
Female ; Pregnancy ; Humans ; Maternal Age ; Trisomy/genetics ; Prenatal Diagnosis ; Cohort Studies ; Triploidy ; Aneuploidy ; Sex Chromosome Aberrations ; Trisomy 18 Syndrome/epidemiology ; Fetus ; Mosaicism ; Denmark/epidemiology
Czasopismo naukowe
Tytuł:
Experience of copy number variation sequencing applied in spontaneous abortion.
Autorzy:
Dai YF; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No.18 Daoshan Road, Fuzhou, Fujian, 350001, China.; Fujian Provincial Key Laboratory for Prenatal diagnosis and Birth Defect, No.18 Daoshan Road, Fuzhou, 350001, Fujian, China.
Wu XQ; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No.18 Daoshan Road, Fuzhou, Fujian, 350001, China.; Fujian Provincial Key Laboratory for Prenatal diagnosis and Birth Defect, No.18 Daoshan Road, Fuzhou, 350001, Fujian, China.
Huang HL; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No.18 Daoshan Road, Fuzhou, Fujian, 350001, China.; Fujian Provincial Key Laboratory for Prenatal diagnosis and Birth Defect, No.18 Daoshan Road, Fuzhou, 350001, Fujian, China.
He SQ; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No.18 Daoshan Road, Fuzhou, Fujian, 350001, China.; Fujian Provincial Key Laboratory for Prenatal diagnosis and Birth Defect, No.18 Daoshan Road, Fuzhou, 350001, Fujian, China.
Guo DH; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No.18 Daoshan Road, Fuzhou, Fujian, 350001, China.; Fujian Provincial Key Laboratory for Prenatal diagnosis and Birth Defect, No.18 Daoshan Road, Fuzhou, 350001, Fujian, China.
Li Y; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No.18 Daoshan Road, Fuzhou, Fujian, 350001, China.; Fujian Provincial Key Laboratory for Prenatal diagnosis and Birth Defect, No.18 Daoshan Road, Fuzhou, 350001, Fujian, China.
Lin N; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No.18 Daoshan Road, Fuzhou, Fujian, 350001, China. .; Fujian Provincial Key Laboratory for Prenatal diagnosis and Birth Defect, No.18 Daoshan Road, Fuzhou, 350001, Fujian, China. .
Xu LP; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No.18 Daoshan Road, Fuzhou, Fujian, 350001, China. .; Fujian Provincial Key Laboratory for Prenatal diagnosis and Birth Defect, No.18 Daoshan Road, Fuzhou, 350001, Fujian, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Jan 08; Vol. 17 (1), pp. 15. Date of Electronic Publication: 2024 Jan 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Abortion, Spontaneous*/genetics
Turner Syndrome*
Pregnancy ; Humans ; Female ; DNA Copy Number Variations ; Trisomy/genetics ; Chromosome Aberrations
Czasopismo naukowe
Tytuł:
Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network.
Autorzy:
Huang SD; Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.; eXtraOrdinary Kids Turner Syndrome Clinic, Children's Hospital Colorado, Aurora, Colorado, USA.; Department of Genetics, Human Genetics and Genetic Counseling, Stanford University School of Medicine, Stanford, California, USA.
Bamba V; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Bothwell S; Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.
Fechner PY; Department of Pediatrics, Division of Endocrinology at Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.
Furniss A; ACCORDS, University of Colorado, Aurora, Colorado, USA.
Ikomi C; Division of Endocrinology, Nemours Children's Health, Wilmington, Delaware, USA.
Nahata L; Division of Endocrinology, Nationwide Children's Hospital, Columbus, Ohio, USA.
Nokoff NJ; Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.
Pyle L; Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.; Department of Biostatistics and Informatics, Colorado School of Public Health, Aurora, Colorado, USA.
Seyoum H; Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.; eXtraOrdinary Kids Turner Syndrome Clinic, Children's Hospital Colorado, Aurora, Colorado, USA.
Davis SM; Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.; eXtraOrdinary Kids Turner Syndrome Clinic, Children's Hospital Colorado, Aurora, Colorado, USA.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63495. Date of Electronic Publication: 2023 Dec 08.
Typ publikacji:
Journal Article
MeSH Terms:
Electronic Health Records*
Turner Syndrome*/diagnosis
Turner Syndrome*/genetics
Humans ; Child ; Female ; Phenotype ; Algorithms ; Estradiol
Czasopismo naukowe

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