المؤلفون: Hoover-Fong JE, Schulze KJ, Alade AY, Bober MB, Gough E, Hashmi SS, Hecht JT, Legare JM, Little ME, Modaff P, Pauli RM, Rodriguez-Buritica DF, Serna ME, Smid C, Liu C, McGready J

المصدر: Yearbook of Paediatric Endocrinology.

مصطلحات موضوعية: General Economics, Econometrics and Finance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e2d55e519656bee2a5104202074e0268
https://doi.org/10.1530/ey.19.5.8

المؤلفون: Hoover-Fong JE; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, 733 N. Broadway Suite 579, Baltimore, MD, 21205, USA. jhoover2@jhmi.edu., Schulze KJ; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, 733 N. Broadway Suite 579, Baltimore, MD, 21205, USA.; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Alade AY; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, 733 N. Broadway Suite 579, Baltimore, MD, 21205, USA.; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Bober MB; Nemours/AI duPont Hospital for Children, Wilmington, DE, USA., Gough E; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, 733 N. Broadway Suite 579, Baltimore, MD, 21205, USA.; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Hashmi SS; McGovern Medical School, University of Texas Health, Houston, TX, USA., Hecht JT; McGovern Medical School, University of Texas Health, Houston, TX, USA.; School of Dentistry, University of Texas Health, Houston, TX, USA., Legare JM; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Little ME; Nemours/AI duPont Hospital for Children, Wilmington, DE, USA., Modaff P; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Pauli RM; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Rodriguez-Buritica DF; McGovern Medical School, University of Texas Health, Houston, TX, USA., Serna ME; McGovern Medical School, University of Texas Health, Houston, TX, USA., Smid C; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Children's Wisconsin and Medical College of Wisconsin, Milwaukee, WI, USA., Liu C; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, 733 N. Broadway Suite 579, Baltimore, MD, 21205, USA., McGready J; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, 733 N. Broadway Suite 579, Baltimore, MD, 21205, USA.; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.

المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Dec 23; Vol. 16 (1), pp. 522. Date of Electronic Publication: 2021 Dec 23.

نوع المنشور: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

مواضيع طبية MeSH: Achondroplasia*/genetics , Body Height*, Child ; Cohort Studies ; Growth Charts ; Humans ; Infant ; Retrospective Studies

المؤلفون: Hoover-Fong JE; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA. jhoover2@jhmi.edu., Alade AY; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; AYA: Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Hashmi SS; McGovern Medical School, University of Texas Health, Houston, TX, USA., Hecht JT; McGovern Medical School, University of Texas Health, Houston, TX, USA.; School of Dentistry, University of Texas Health, Houston, TX, USA., Legare JM; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Little ME; Nemours/A.I. duPont Hospital for Children, Wilmington, DE, USA., Liu C; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., McGready J; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Modaff P; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Pauli RM; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Rodriguez-Buritica DF; McGovern Medical School, University of Texas Health, Houston, TX, USA., Schulze KJ; Greenberg Center for Skeletal Dysplasias, Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA., Serna ME; McGovern Medical School, University of Texas Health, Houston, TX, USA., Smid CJ; University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Children's Wisconsin & Medical College of Wisconsin, Milwaukee, WI, USA., Bober MB; Nemours/A.I. duPont Hospital for Children, Wilmington, DE, USA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Aug; Vol. 23 (8), pp. 1498-1505. Date of Electronic Publication: 2021 May 18.

نوع المنشور: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Achondroplasia*/diagnostic imaging , Achondroplasia*/epidemiology , Achondroplasia*/genetics , Osteochondrodysplasias*, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Polysomnography ; Prospective Studies ; Retrospective Studies ; United States/epidemiology ; Young Adult

المؤلفون: Legare JM; 1Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Liu C; 2Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, and., Pauli RM; 1Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Alade AY; 3Department of Epidemiology, Johns Hopkins University, Baltimore, Maryland., Hashmi SS; 4McGovern Medical School at University of Texas Health, Houston, Texas., Campbell JW; 5A. I. duPont Hospital for Children, Thomas Jefferson University, Wilmington, Delaware; and., Smid CJ; 1Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.; 6Children's Wisconsin, Medical College of Wisconsin, Milwaukee, Wisconsin., Modaff P; 1Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin., Little ME; 5A. I. duPont Hospital for Children, Thomas Jefferson University, Wilmington, Delaware; and., Rodriguez-Buritica DF; 4McGovern Medical School at University of Texas Health, Houston, Texas., Serna ME; 4McGovern Medical School at University of Texas Health, Houston, Texas., Hecht JT; 4McGovern Medical School at University of Texas Health, Houston, Texas., Hoover-Fong JE; 2Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, and., Bober MB; 5A. I. duPont Hospital for Children, Thomas Jefferson University, Wilmington, Delaware; and.

المصدر: Journal of neurosurgery. Pediatrics [J Neurosurg Pediatr] 2021 Jun 04; Vol. 28 (2), pp. 229-235. Date of Electronic Publication: 2021 Jun 04 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association of Neurological Surgeons Country of Publication: United States NLM ID: 101463759 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1933-0715 (Electronic) Linking ISSN: 19330707 NLM ISO Abbreviation: J Neurosurg Pediatr Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Legare JM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Pauli RM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Hecht JT; Department of Pediatrics, McGovern Medical School at UT Health, Houston, Texas, USA., Bober MB; Department of Pediatrics, A. l. duPont Hospital for Children, Thomas Jefferson University, Wilmington, Delaware, USA., Smid CJ; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Department of Genetics, Children's Wisconsin; Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Modaff P; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Little ME; Department of Pediatrics, A. l. duPont Hospital for Children, Thomas Jefferson University, Wilmington, Delaware, USA., Rodriguez-Buritica DF; Department of Pediatrics, McGovern Medical School at UT Health, Houston, Texas, USA., Serna ME; Department of Pediatrics, McGovern Medical School at UT Health, Houston, Texas, USA., Alade AY; Department of Epidemiology, Johns Hopkins University, Baltimore, Maryland, USA., Liu C; Greenberg Center for Skeletal Dysplasias, McKusick Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Hoover-Fong JE; Greenberg Center for Skeletal Dysplasias, McKusick Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Hashmi SS; Department of Pediatrics, McGovern Medical School at UT Health, Houston, Texas, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Apr; Vol. 185 (4), pp. 1168-1174. Date of Electronic Publication: 2021 Jan 26.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Achondroplasia/*epidemiology , Craniosynostoses/*epidemiology , Osteochondrodysplasias/*epidemiology , Seizures/*epidemiology, Achondroplasia/diagnosis ; Achondroplasia/pathology ; Adult ; Craniosynostoses/diagnosis ; Craniosynostoses/pathology ; Diabetes Mellitus/diagnosis ; Diabetes Mellitus/genetics ; Diabetes Mellitus/pathology ; Female ; Humans ; Male ; Mutation/genetics ; Osteochondrodysplasias/diagnosis ; Osteochondrodysplasias/pathology ; Phenotype ; Seizures/diagnosis ; Seizures/pathology ; Young Adult

المؤلفون: Hoover-Fong J; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetics, Johns Hopkins University, Baltimore, Maryland., Alade AY; Greenberg Center for Skeletal Dysplasias, Johns Hopkins University, Baltimore, Maryland., Ain M; Department of Orthopedics, Johns Hopkins University, Baltimore, Maryland., Berkowitz I; Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University, Baltimore, Maryland., Bober M; Division of Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware., Carter E; Center for Skeletal Dysplasias, Hospital for Special Surgeries, New York, New York., Hecht J; Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas., Hoerschemeyer D; Department of Orthopedic Surgery, University of Missouri-Columbia, Columbia, Missouri., Krakow D; Department of Orthopaedic Surgery, Ronald Reagan UCLA Medical Center, Los Angeles, California., MacCarrick G; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland., Mackenzie WG; Department of Orthopedic Surgery, Alfred I duPont Hospital for Children, Wilmington, Delaware., Mendoza R; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Okenfuss E; Regional Skeletal Dysplasia Program, Kaiser Permanente Genetics, Oakland, California., Popplewell D; Regional Skeletal Dysplasia Program, Kaiser Permanente Genetics, Oakland, California., Raggio C; Center for Skeletal Dysplasias, Hospital for Special Surgeries, New York, New York., Schulze K; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland., McGready J; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jan; Vol. 182 (1), pp. 150-161. Date of Electronic Publication: 2019 Nov 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Blood Pressure/*physiology , Dwarfism/*physiopathology , Hypertension/*physiopathology , Obesity/*physiopathology, Adult ; Aged ; Arm/physiology ; Dwarfism/complications ; Dwarfism/epidemiology ; Female ; Humans ; Hypertension/complications ; Hypertension/epidemiology ; Male ; Middle Aged ; Obesity/complications ; Obesity/epidemiology ; Prevalence ; Risk Factors

المؤلفون: Hashmi SS; Department of Pediatrics, McGovern Medical School at UTHealth, Houston, Texas., Gamble C; Cook Children's Genetics, Cook Children's Medical Center, Fort Worth, Texas., Hoover-Fong J; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland., Alade AY; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland., Pauli RM; Midwest Regional Bone Dysplasia Clinic, University of Wisconsin-Madison, Madison, Wisconsin., Modaff P; Midwest Regional Bone Dysplasia Clinic, University of Wisconsin-Madison, Madison, Wisconsin., Carney M; Department of Pediatrics, Division of Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Brown C; Department of Pediatrics, Division of Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Bober MB; Department of Pediatrics, Division of Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Hecht JT; Department of Pediatrics, McGovern Medical School at UTHealth, Houston, Texas.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Nov; Vol. 176 (11), pp. 2359-2364. Date of Electronic Publication: 2018 Oct 01.

نوع المنشور: Journal Article; Multicenter Study

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Achondroplasia/*mortality, Adolescent ; Adult ; Cause of Death ; Child ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Infant ; Male ; Young Adult

المؤلفون: Hoover-Fong J; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland., McGready J; Department of Biostatistics, Johns Hopkins University, Baltimore, Maryland.; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland., Schulze K; Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland.; Center for Human Nutrition, Department of International Health, Johns Hopkins University, Baltimore, Maryland., Alade AY; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland., Scott CI; AI DuPont Hospital for Children, Sidney Kimmel Medical College, Thomas Jefferson University, Wilmington, Delaware.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2017 May; Vol. 173 (5), pp. 1226-1230. Date of Electronic Publication: 2017 Apr 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Age Factors* , Body Height*, Achondroplasia/*epidemiology , Achondroplasia/*physiopathology, Adolescent ; Anthropometry ; Body Weight ; Child ; Child, Preschool ; Electronic Health Records ; Female ; Humans ; Infant ; Infant, Newborn ; Longitudinal Studies ; Male