المؤلفون: Stephens SB; Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Division of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA., Benjamin RH; Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Lopez KN; Division of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA., Anderson BR; Division of Pediatric Cardiology, New York-Presbyterian and Columbia University Irving Medical Center, New York, New York, USA., Lin AE; Department of Pediatrics, Medical Genetics Unit, Mass General for Children and Harvard University School of Medicine, Boston, Massachusetts, USA., Shumate CJ; Texas Department of State Health Services, Austin, Texas, USA., Nembhard WN; Arkansas Center for Birth Defects Research and Prevention and Arkansas Reproductive Health Monitoring System, Fay Boozman College of Public Health, Department of Epidemiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Morris SA; Division of Pediatric Cardiology, Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA., Agopian AJ; Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.

المصدر: Birth defects research [Birth Defects Res] 2024 Aug; Vol. 116 (8), pp. e2393.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE

مواضيع طبية MeSH: Heart Defects, Congenital*/epidemiology , Heart Defects, Congenital*/classification , Registries*, Humans ; Infant, Newborn ; Female ; Congenital Abnormalities/epidemiology ; Congenital Abnormalities/classification ; Infant ; Texas/epidemiology ; Outcome Assessment, Health Care/methods ; Male ; Infant Mortality/trends

المؤلفون: Stanley KJ; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Kalbfleisch KJ; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Moran OM; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Chaturvedi RR; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Roifman M; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., Chen X; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Manshaei R; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Martin N; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., McDermott S; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., McNiven V; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada., Myles-Reid D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., Nield LE; Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Schwartz MLB; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Shannon P; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada., Silver R; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., Somerville C; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada., Teitelbaum R; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., Zahavich L; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Bassett AS; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; The Dalglish Family 22q Clinic, University Health Network, Toronto, ON, Canada.; Department of Psychiatry, University of Toronto, Toronto, ON, Canada.; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Kim RH; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Fred A. Litwin Family Centre in Genetic Medicine, Department of Medicine, University Health Network, Toronto, ON, Canada., Mital S; Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Ted Rogers Centre for Heart Research, Toronto, ON, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, ON, Canada., Jobling RK; Ted Rogers Centre for Heart Research Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.; Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada. rebekah.jobling@sickkids.ca.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul; Vol. 32 (7), pp. 795-803. Date of Electronic Publication: 2024 May 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Receptor, Notch1*/genetics , Heart Defects, Congenital*/genetics , Heart Defects, Congenital*/pathology , Phenotype* , Pedigree*, Humans ; Male ; Female ; Adult ; Adolescent ; Child, Preschool ; Child ; Middle Aged ; Aged ; Mutation ; Ectodermal Dysplasia/genetics ; Ectodermal Dysplasia/pathology ; Ectodermal Dysplasia/diagnosis ; Limb Deformities, Congenital/genetics ; Limb Deformities, Congenital/pathology ; Limb Deformities, Congenital/diagnosis ; Scalp Dermatoses/congenital

SCR Disease Name: Adams Oliver syndrome

المؤلفون: Zepeda-Olmos PM; División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico.; Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada 950, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico., Robles-Espinoza K; División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico.; Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada 950, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico., Esparza-García E; Unidad Médica de Alta Especialidad, Hospital de Pediatría del Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Belisario Domínguez 735, La Perla, Guadalajara 44360, Jalisco, Mexico., Magaña-Torres MT; División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Independencia Oriente, Guadalajara 44340, Jalisco, Mexico.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 29; Vol. 25 (17). Date of Electronic Publication: 2024 Aug 29.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Ectromelia*/genetics , Hand Deformities, Congenital*/genetics , Thumb*/abnormalities, Humans ; Infant ; Male ; Abnormalities, Multiple/genetics ; Congenital Abnormalities ; Genetic Association Studies ; Hedgehog Proteins/genetics ; Mandibulofacial Dysostosis ; Mutation ; Phenotype ; Polydactyly/genetics ; Tibia/abnormalities ; Toes/abnormalities

SCR Disease Name: Patterson Stevenson syndrome; Triphalangeal Thumb; Tibia, Hypoplasia of, with Polydactyly

المؤلفون: Camporesi A; Division of Pediatric Anesthesia and Intensive Care, Vittore Buzzi Children's Hospital, Milan, Italy.; Department of Anesthesia and Critical Care, IRCCS San Raffaele Scientific Institute, Milan, Italy., Silvani P; Division of Pediatric Anesthesia and Intensive Care, Vittore Buzzi Children's Hospital, Milan, Italy.; Department of Anesthesia and Critical Care, IRCCS San Raffaele Scientific Institute, Milan, Italy.

المصدر: Paediatric anaesthesia [Paediatr Anaesth] 2024 Aug; Vol. 34 (8), pp. 818. Date of Electronic Publication: 2024 May 07.

نوع المنشور: Letter

بيانات الدورية: Publisher: Arnette-Blackwell Country of Publication: France NLM ID: 9206575 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-9592 (Electronic) Linking ISSN: 11555645 NLM ISO Abbreviation: Paediatr Anaesth Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple* , Hand Deformities, Congenital* , Intellectual Disability* , Micrognathism*, Humans ; Apnea ; Face/abnormalities ; Upper Extremity Deformities, Congenital ; Neck/abnormalities ; Anesthesia Recovery Period ; Anesthesia/adverse effects ; Anesthesia/methods ; Child

SCR Disease Name: Coffin-Siris syndrome

المؤلفون: Achiron R; Department of Obstetrics and Gynecology, Fetal Medicine Unit, Chaim Sheba Medical Center, Ramat-Gan, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Har-Toov J; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Kivilevitch Z; Department of Obstetrics and Gynecology, Fetal Medicine Unit, Chaim Sheba Medical Center, Ramat-Gan, Israel.

المصدر: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2024 May; Vol. 63 (5), pp. 709-711.

نوع المنشور: Letter; Case Reports

بيانات الدورية: Publisher: John Wiley & Sons, Ltd Country of Publication: England NLM ID: 9108340 Publication Model: Print Cited Medium: Internet ISSN: 1469-0705 (Electronic) Linking ISSN: 09607692 NLM ISO Abbreviation: Ultrasound Obstet Gynecol Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/genetics , Abnormalities, Multiple*/diagnostic imaging , Azygos Vein*/abnormalities , Azygos Vein*/diagnostic imaging , Heart Defects, Congenital*/genetics , Heart Defects, Congenital*/diagnostic imaging , T-Box Domain Proteins*/genetics, Adult ; Female ; Humans ; Pregnancy ; Heart Septal Defects, Atrial/genetics ; Heart Septal Defects, Atrial/diagnostic imaging ; Heart Septal Defects, Atrial/surgery ; Lower Extremity Deformities, Congenital/genetics ; Lower Extremity Deformities, Congenital/diagnostic imaging ; Mutation ; Ultrasonography, Prenatal ; Upper Extremity Deformities, Congenital/genetics ; Upper Extremity Deformities, Congenital/diagnostic imaging

SCR Disease Name: Holt-Oram syndrome

المؤلفون: Hambraeus M; Institution of Clinical Sciences, Lund University, Department of Pediatric Surgery, Skane University Hospital Lund, 221 85 Lund, Sweden. Electronic address: mette.hambraeus@skane.se., Börjesson A; Institution of Clinical Sciences, Lund University, Department of Pediatric Surgery, Skane University Hospital Lund, 221 85 Lund, Sweden., Ekmark AN; Institution of Clinical Sciences, Lund University, Department of Pediatric Surgery, Skane University Hospital Lund, 221 85 Lund, Sweden., Tofft L; Institution of Clinical Sciences, Lund University, Department of Pediatric Surgery, Skane University Hospital Lund, 221 85 Lund, Sweden., Arnbjörnsson E; Institution of Clinical Sciences, Lund University, Department of Pediatric Surgery, Skane University Hospital Lund, 221 85 Lund, Sweden., Stenström P; Institution of Clinical Sciences, Lund University, Department of Pediatric Surgery, Skane University Hospital Lund, 221 85 Lund, Sweden.

المصدر: Journal of pediatric surgery [J Pediatr Surg] 2024 Oct; Vol. 59 (10), pp. 161575. Date of Electronic Publication: 2024 May 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Saunders Country of Publication: United States NLM ID: 0052631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-5037 (Electronic) Linking ISSN: 00223468 NLM ISO Abbreviation: J Pediatr Surg Subsets: MEDLINE

مواضيع طبية MeSH: Anal Canal*/abnormalities , Esophageal Atresia*/epidemiology , Esophageal Atresia*/surgery , Esophageal Atresia*/diagnosis , Anorectal Malformations*/epidemiology , Limb Deformities, Congenital*/epidemiology, Humans ; Female ; Male ; Retrospective Studies ; Cross-Sectional Studies ; Infant, Newborn ; Trachea/abnormalities ; Esophagus/abnormalities ; Esophagus/surgery ; Abnormalities, Multiple/epidemiology ; Infant ; Registries ; Spine/abnormalities ; Heart Defects, Congenital/epidemiology ; Heart Defects, Congenital/diagnosis ; Child, Preschool ; Kidney/abnormalities

SCR Disease Name: VACTERL association

المؤلفون: Monier I; Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France. Electronic address: isabelle.monier@inserm.fr., Hachem S; Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France., Goffinet F; Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France; Port-Royal Maternity Unit, Groupe hospitalier Cochin Broca Hôtel-Dieu, AP-HP, Université Paris, FHU Prema, Paris, France., Martinez-Marin A; Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France., Khoshnood B; Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France., Lelong N; Université Paris Cité, Centre of Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team (EPOPé), INSERM, INRA, Paris, France.

المصدر: Journal of gynecology obstetrics and human reproduction [J Gynecol Obstet Hum Reprod] 2024 Jun; Vol. 53 (6), pp. 102780. Date of Electronic Publication: 2024 Mar 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Masson SAS Country of Publication: France NLM ID: 101701588 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2468-7847 (Electronic) Linking ISSN: 24687847 NLM ISO Abbreviation: J Gynecol Obstet Hum Reprod Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Abnormalities*/epidemiology , Registries*/statistics & numerical data , Prenatal Diagnosis*/statistics & numerical data, Humans ; Female ; Paris/epidemiology ; Pregnancy ; Infant, Newborn ; Prevalence ; Male ; Infant Mortality/trends ; Heart Defects, Congenital/epidemiology ; Infant ; Population Surveillance ; Hypospadias/epidemiology ; Stillbirth/epidemiology ; Kidney/abnormalities ; Kidney Diseases/congenital

SCR Disease Name: Hereditary renal agenesis

المؤلفون: Zheng J; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China., Gu M; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China., Xiao S; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China., Li C; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China., Mi H; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China.; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China., Xu X; Department of Pediatrics, The First People's Hospital of Yunnan Province, 157 Jinbi Road, Xishan District, Kunming, 650032, Yunnan Province, China. laoshu_008@163.com.; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China. laoshu_008@163.com.

المصدر: BMC pediatrics [BMC Pediatr] 2024 May 06; Vol. 24 (1), pp. 309. Date of Electronic Publication: 2024 May 06.

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

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense* , Abnormalities, Multiple*/genetics , Carrier Proteins*/genetics , Hand Deformities, Congenital* , Nails, Malformed*, Humans ; Female ; Infant, Newborn ; Nuclear Proteins/genetics ; Intellectual Disability/genetics ; Craniofacial Abnormalities/genetics ; Craniofacial Abnormalities/complications ; Clubfoot/genetics ; Phenotype ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/complications ; Degrons

SCR Disease Name: Schinzel-Giedion syndrome

المؤلفون: Bergamasco MI; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and., Vanyai HK; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and., Garnham AL; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and., Geoghegan ND; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and., Vogel AP; Centre for Neurosciences of Speech, University of Melbourne, Parkville, Victoria, Australia.; Redenlab Inc., Melbourne, Australia., Eccles S; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and., Rogers KL; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and., Smyth GK; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; School of Mathematics and Statistics, University of Melbourne, Parkville, Victoria, Australia., Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and., Hannan AJ; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.; Department of Anatomy and Physiology, University of Melbourne, Parkville, Victoria, Australia., Thomas T; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and., Voss AK; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and.

المصدر: The Journal of clinical investigation [J Clin Invest] 2024 Apr 01; Vol. 134 (7). Date of Electronic Publication: 2024 Apr 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/drug therapy , Abnormalities, Multiple*/genetics , Acetylcarnitine*/pharmacology , Acetylcarnitine*/therapeutic use , Congenital Hypothyroidism* , Craniofacial Abnormalities*/drug therapy , Craniofacial Abnormalities*/genetics , Histone Acetyltransferases*/antagonists & inhibitors , Histone Acetyltransferases*/genetics , Histone Acetyltransferases*/metabolism , Intellectual Disability*/drug therapy , Intellectual Disability*/genetics , Joint Instability*, Animals ; Humans ; Mice ; Acetylation ; Blepharophimosis ; Chromatin ; Exons ; Facies ; Heart Defects, Congenital ; Histones/genetics

SCR Disease Name: Young Simpson syndrome

المؤلفون: Lashkarbolouk N; Golestan University of Medical Sciences, Gorgan, Iran.; Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, Iran., Mazandarani M; Golestan University of Medical Sciences, Gorgan, Iran.; Endocrinology and Metabolism Research Center, Tehran University of Medical Sciences, Tehran, Iran., Azari AA; Taleghani Pediatric Hospital, Golestan University of Medical Sciences, Gorgan, Iran., Ghorbani S; Golestan University of Medical Sciences, Gorgan, Iran., Shahkar L; Taleghani Pediatric Hospital, Golestan University of Medical Sciences, Gorgan, Iran. lobatshahkar@yahoo.com.

المصدر: BMC pediatrics [BMC Pediatr] 2024 Jul 06; Vol. 24 (1), pp. 435. Date of Electronic Publication: 2024 Jul 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Cystic Adenomatoid Malformation of Lung, Congenital*/diagnostic imaging , Cystic Adenomatoid Malformation of Lung, Congenital*/diagnosis , Cystic Adenomatoid Malformation of Lung, Congenital*/epidemiology, Humans ; Retrospective Studies ; Iran/epidemiology ; Female ; Male ; Infant ; Child, Preschool ; Lung/abnormalities ; Lung/diagnostic imaging ; Pulmonary Emphysema/congenital ; Pulmonary Emphysema/diagnostic imaging ; Pulmonary Emphysema/epidemiology ; Pulmonary Emphysema/diagnosis ; Child ; Bronchopulmonary Sequestration/diagnostic imaging ; Bronchopulmonary Sequestration/epidemiology ; Lung Diseases/congenital ; Lung Diseases/epidemiology ; Lung Diseases/diagnostic imaging ; Lung Diseases/diagnosis ; Bronchogenic Cyst/diagnostic imaging ; Bronchogenic Cyst/epidemiology ; Bronchogenic Cyst/diagnosis ; Bronchogenic Cyst/congenital ; Infant, Newborn ; Prevalence

SCR Disease Name: Congenital lobar emphysema