المؤلفون: Elsayed LEO; Department of Basic Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., AlHarbi NA; Department of Internal Medicine, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia. Noaalharbi@pnu.edu.sa., Alqarni AM; Foundation Year of Health Colleges, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia., Eltayeb HHE; Department of Basic Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Mostafa NMM; Department of Basic Sciences, College of Medicine, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia.; Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt., Abdulrahim MM; Research and Academic Accreditation, Academic Affairs, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Zaid HIB; Out-Patient department, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia., Alanzi LM; Department of Pathology and Laboratory Medicine, King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia., Ababtain SA; Genetics Section, Research Department, Health Sciences Research Center, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Aldulaijan K; Genetics Section, Research Department, Health Sciences Research Center, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Aloyouni SY; Genetics Section, Research Department, Health Sciences Research Center, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Othman MAK; Centogene GmbH, Rostock, Germany., Alkheilewi MA; Health Support Services Centre, Ministry of Health, Riyadh, 12382, Saudi Arabia., Binduraihem AM; Genetics Section, Research Department, Health Sciences Research Center, Princess Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Alrukban HA; Pediatric Department, Division of Genetic and Metabolic, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Ahmed HY; Pediatrics department, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia., AlRadini FA; Family and Community Medicine Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia., Alahdal HM; Department of Biology, College of Science, Princes Nourah Bint Abdulrahman University, P.O. Box 84428, Riyadh, 11671, Saudi Arabia., Mushiba AM; Pediatrics department, King Abdullah bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alzaher OA; Pediatric Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.

المصدر: Human genomics [Hum Genomics] 2024 Sep 04; Vol. 18 (1), pp. 95. Date of Electronic Publication: 2024 Sep 04.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Chromosomes, Human, Pair 16*/genetics , Chromosome Deletion* , Phenotype* , Microcephaly*/genetics , Microcephaly*/pathology , Microcephaly*/complications , Dandy-Walker Syndrome*/genetics , Dandy-Walker Syndrome*/complications , Dandy-Walker Syndrome*/pathology, Humans ; Female ; DNA Copy Number Variations/genetics ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Chromosome Disorders/genetics ; Chromosome Disorders/pathology ; Child ; Male ; Saudi Arabia ; Child, Preschool ; Autistic Disorder

SCR Disease Name: 16p11.2 Deletion Syndrome

المؤلفون: Stanković A; Gynecology and Obstetrics Clinic Narodni front, Belgrade, Serbia., Toljić M; Gynecology and Obstetrics Clinic Narodni front, Belgrade, Serbia., Orlić NK; Gynecology and Obstetrics Clinic Narodni front, Belgrade, Serbia.; School of Medicine, University of Belgrade, Belgrade, Serbia., Miković Ž; Gynecology and Obstetrics Clinic Narodni front, Belgrade, Serbia.; School of Medicine, University of Belgrade, Belgrade, Serbia., Joksić I; Gynecology and Obstetrics Clinic Narodni front, Belgrade, Serbia.

المصدر: Prenatal diagnosis [Prenat Diagn] 2024 Jul; Vol. 44 (8), pp. 1008-1011. Date of Electronic Publication: 2024 May 31.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Dandy-Walker Syndrome*/genetics , Dandy-Walker Syndrome*/diagnostic imaging , Dandy-Walker Syndrome*/diagnosis , Ultrasonography, Prenatal* , Phenotype*, Humans ; Female ; Pregnancy ; Young Adult ; Heart Ventricles/diagnostic imaging ; Heart Ventricles/abnormalities ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/diagnostic imaging ; Heart Defects, Congenital/diagnosis

المؤلفون: Wee T; Department of Radiology, University of British Columbia, Vancouver, BC, Canada., Gupta N; Department of Medical Imaging, Children's Hospital of Eastern Ontario (CHEO), Ottawa, ON, Canada., Miller E; Department of Diagnostic and Interventional Radiology, University of Toronto, Toronto, ON, Canada., Pauranik A; Department of Radiology, University of British Columbia, Vancouver, BC, Canada; Department of Radiology, BC Children's Hospital, Vancouver, BC, Canada. Electronic address: Anvita.Pauranik@cw.bc.ca.

المصدر: Clinical radiology [Clin Radiol] 2024 May; Vol. 79 (5), pp. 330-337. Date of Electronic Publication: 2024 Feb 03.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Blackwell Scientific Publications Ltd Country of Publication: England NLM ID: 1306016 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-229X (Electronic) Linking ISSN: 00099260 NLM ISO Abbreviation: Clin Radiol Subsets: MEDLINE

مواضيع طبية MeSH: Dandy-Walker Syndrome*/diagnostic imaging , Dandy-Walker Syndrome*/genetics, Humans ; Child ; Magnetic Resonance Imaging/methods ; Neuroimaging ; Head

SCR Disease Name: Dandy Walker variant

المؤلفون: 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_mmh@yahoo.com.

المصدر: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 May; Vol. 63 (3), pp. 431-434.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: China (Republic : 1949- ) NLM ID: 101213819 Publication Model: Print Cited Medium: Internet ISSN: 1875-6263 (Electronic) Linking ISSN: 10284559 NLM ISO Abbreviation: Taiwan J Obstet Gynecol Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomegaly*/diagnostic imaging , Cardiomegaly*/genetics , Dandy-Walker Syndrome*/diagnostic imaging , Dandy-Walker Syndrome*/embryology , Dandy-Walker Syndrome*/genetics , Fetal Growth Retardation*/diagnosis , Fetal Growth Retardation*/diagnostic imaging , Pericardial Effusion*/diagnostic imaging , Pregnancy Trimester, First* , Pregnancy Trimester, Second* , Ultrasonography, Prenatal*/methods, Female ; Humans ; Pregnancy ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/diagnostic imaging ; False Negative Reactions ; Megalencephaly/genetics ; Noninvasive Prenatal Testing/methods ; Single Umbilical Artery/diagnostic imaging ; Triploidy

المؤلفون: Alsehli H; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. alsehlihanan@gmail.com.; Department of Obstetrics and Gynecology, King Abdulaziz Medical City, Ministry of the National Guard-Health Affairs, Riyadh, Saudi Arabia. alsehlihanan@gmail.com.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia. alsehlihanan@gmail.com., Alshahrani SM; Department of Public Health, College of Applied Medical Sciences, King Khalid University, Abha, Saudi Arabia., Alzahrani S; Department of Pediatric Neurology, King Abdullah Specialist Children Hospital, Ministry of the National Guard-Health Affairs, Riyadh, Saudi Arabia., Ababneh F; Department of Genetics and Precision Medicine, King Abdullah Specialist Children Hospital, Ministry of the National Guard-Health Affairs, Riyadh, Saudi Arabia.; King Abdulaziz Medical City, Ministry of the National Guard-Health Affairs, Riyadh, Saudi Arabia., Alharbi NM; Department of Obstetrics and Gynecology, King Abdulaziz Medical City, Ministry of the National Guard-Health Affairs, Riyadh, Saudi Arabia., Alarfaj N; Department of Obstetrics and Gynecology, King Abdulaziz Medical City, Ministry of the National Guard-Health Affairs, Riyadh, Saudi Arabia., Baarmah D; Department of Pediatrics, King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.

المصدر: Scientific reports [Sci Rep] 2024 Apr 10; Vol. 14 (1), pp. 8411. Date of Electronic Publication: 2024 Apr 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Dandy-Walker Syndrome*/diagnostic imaging , Dandy-Walker Syndrome*/epidemiology , Dandy-Walker Syndrome*/genetics , Nervous System Malformations*, Pregnancy ; Female ; Infant, Newborn ; Humans ; Retrospective Studies ; Prenatal Diagnosis ; Fetus/pathology ; Ultrasonography, Prenatal ; Magnetic Resonance Imaging

SCR Disease Name: Dandy Walker cyst

المؤلفون: Paladini D; Fetal Medicine and Surgery Unit - IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Dipartimento Universitario di Neuroscienze, Scienze Riproduttive e Odontostomatoogiche - University Federico II of Naples, Naples, Italy., Biancotto G; Fetal Medicine and Surgery Unit - IRCCS Istituto Giannina Gaslini, Genoa, Italy., Della Sala F; Fetal Medicine and Surgery Unit - IRCCS Istituto Giannina Gaslini, Genoa, Italy., Acharya PV; Paras Advanced Center for Fetal Medicine, Naranpura, Ahmedabad, Gujarat, India.

المصدر: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2024 Apr; Vol. 63 (4), pp. 497-501. Date of Electronic Publication: 2024 Mar 13.

نوع المنشور: Journal Article

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

مواضيع طبية MeSH: Dandy-Walker Syndrome*/genetics , Spinal Dysraphism*, Pregnancy ; Female ; Humans ; Retrospective Studies ; Prospective Studies ; Cranial Fossa, Posterior/diagnostic imaging ; Cranial Fossa, Posterior/abnormalities ; Ultrasonography, Prenatal/methods

المؤلفون: Alsamal M; College of Medicine, Sulaiman Al Rajhi University, P.O. Box 777, Bukaryiah, 51941, Saudi Arabia. mhdsmel@gmail.com.; Dr. Sulaiman Al Habib Medical Group, Al Qassim, Saudi Arabia. mhdsmel@gmail.com., Zitoun OA; College of Medicine, Sulaiman Al Rajhi University, P.O. Box 777, Bukaryiah, 51941, Saudi Arabia.; School of Public Health Sciences, University of Waterloo, Waterloo, ON, Canada., Abdulghani EA; Department of Pediatrics, Abdul Rahman Al-Mishari Hospital, Riyadh, Saudi Arabia., Sula I; College of Medical Applied Sciences, Sulaiman Al Rajhi University, P.O. Box 777, Bukaryiah, 51941, Saudi Arabia.

المصدر: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2024 Jan; Vol. 40 (1), pp. 257-261. Date of Electronic Publication: 2023 Aug 02.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-0350 (Electronic) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE

مواضيع طبية MeSH: Dandy-Walker Syndrome*/complications , Dandy-Walker Syndrome*/diagnostic imaging , Polycystic Kidney Diseases*/complications , Polycystic Kidney Diseases*/diagnostic imaging, Pregnancy ; Female ; Humans ; Infant, Newborn ; Encephalocele/complications ; Encephalocele/diagnostic imaging ; Syndrome ; Marriage ; Ultrasonography, Prenatal

SCR Disease Name: Meckel syndrome type 1; Dandy Walker cyst

المؤلفون: Leslie AC; University of Minnesota Medical School, Minneapolis, Minnesota, USA., Ward MP; University of Minnesota Medical School, Minneapolis, Minnesota, USA., Dobyns WB; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63416. Date of Electronic Publication: 2023 Nov 07.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

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: Dandy-Walker Syndrome*/diagnosis , Schizophrenia*/diagnostic imaging , Schizophrenia*/genetics , Psychotic Disorders* , Nervous System Malformations*, Cerebellum/*abnormalities, Humans ; Cerebellum/diagnostic imaging ; Developmental Disabilities

SCR Disease Name: Cerebellar Hypoplasia

المؤلفون: Pradhan B; Nepalese Army Institute of Health Sciences, Sanobharyang, Kathmandu, Nepal., Sharma B; Nepalese Army Institute of Health Sciences, Sanobharyang, Kathmandu, Nepal., Acharya P; Department of Paediatrics, Shree Birendra Hospital, Chhauni, Kathmandu, Nepal., Thapa S; Nepalese Army Institute of Health Sciences, Sanobharyang, Kathmandu, Nepal., Chand J; Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal., Bista S; Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.

المصدر: JNMA; journal of the Nepal Medical Association [JNMA J Nepal Med Assoc] 2024 Feb 24; Vol. 62 (270), pp. 142-144. Date of Electronic Publication: 2024 Feb 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Nepal Medical Association Country of Publication: Nepal NLM ID: 0045233 Publication Model: Electronic Cited Medium: Internet ISSN: 1815-672X (Electronic) Linking ISSN: 00282715 NLM ISO Abbreviation: JNMA J Nepal Med Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Dandy-Walker Syndrome*/complications , Dandy-Walker Syndrome*/diagnosis , Dandy-Walker Syndrome*/pathology , Meningitis*, Infant, Newborn ; Humans ; Female ; Pregnancy ; Brain/pathology ; Magnetic Resonance Imaging

SCR Disease Name: Dandy Walker cyst; Dandy Walker variant

المؤلفون: Murakami H; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. cataro531@gmail.com.; Department of Pediatric Medical Care, Gifu Prefectural General Medical Center, Gifu, Japan. cataro531@gmail.com., Enomoto Y; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan., Kumaki T; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan., Aida N; Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan., Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. kkurosawa@kcmc.jp.; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan. kkurosawa@kcmc.jp.

المصدر: Journal of human genetics [J Hum Genet] 2024 Jan; Vol. 69 (1), pp. 47-52. Date of Electronic Publication: 2023 Nov 10.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Craniosynostoses*/genetics , Dandy-Walker Syndrome*/genetics , Nanopores*, Humans ; Male ; Cerebellum/abnormalities ; Chromosome Inversion/genetics ; Transcription Factors/genetics