Informacja

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

Wyszukujesz frazę ""Agenesis of Corpus Callosum"" wg kryterium: Temat


Tytuł:
Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis.
Autorzy:
Mustafa HJ; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.; Riley Children and Indiana University Health Fetal Center, Indianapolis, IN, USA.
Barbera JP; Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
Sambatur EV; Research Division, Houston Center for Maternal Fetal Medicine, Houston, TX, USA.
Pagani G; Maternal Fetal Medicine Unit, Department of Obstetrics and Gynecology, ASST-Papa Giovanni XXIII, Bergamo, Italy.
Yaron Y; Prenatal Genetic Diagnosis Unit, Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Baptiste CD; Obstetrics and Gynecology, Reproductive Genetics, Columbia University Medical Center, New York, NY, USA.
Wapner RJ; Obstetrics and Gynecology, Reproductive Genetics, Columbia University Medical Center, New York, NY, USA.
Brewer CJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Khalil A; Fetal Medicine Unit, St George's University Hospitals NHS Foundation Trust, University of London, London, UK.; Vascular Biology Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK.
Pokaż więcej
Źródło:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2024 Mar; Vol. 63 (3), pp. 312-320.
Typ publikacji:
Meta-Analysis; Systematic Review; Journal Article; Review
MeSH Terms:
Agenesis of Corpus Callosum*/diagnostic imaging
Agenesis of Corpus Callosum*/genetics
Exome Sequencing*
Female ; Humans ; Pregnancy ; Corpus Callosum
Czasopismo naukowe
Tytuł:
Calloso-adreno-scrotal agenesis associated with biallelic MAPK-activating death domain protein (MADD) variant: Further phenotypic delineation of MADD deficiency.
Autorzy:
Darouich S; Faculté de Médecine de Tunis, Université de Tunis El Manar, Tunis, Tunisia.; Unité de Pathologie Fœtale et Placentaire, CHU Habib Bougatfa, Bizerte, Tunisia.
Darouich S; Institut supérieur des Sciences Humaines de Tunis, Université de Tunis El Manar, Tunis, Tunisia.
Pokaż więcej
Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63463. Date of Electronic Publication: 2023 Nov 06.
Typ publikacji:
Case Reports
MeSH Terms:
Agenesis of Corpus Callosum*
Guanine Nucleotide Exchange Factors*/genetics
Infant, Newborn ; Humans ; Male ; Death Domain ; Death Domain Receptor Signaling Adaptor Proteins/genetics
Raport
Tytuł:
Retrospective analysis of the prognostic factors of fetal corpus callosum dysplasia.
Autorzy:
Huang R; Department of Obstetrics and Gynecology, Peking University First Hospital, Beijing, 100034, China.
Chen J; Department of Obstetrics and Gynecology, Peking University First Hospital, Beijing, 100034, China. .
Hou X; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Liu L; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Sun G; Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
Pan H; Department of Central Laboratory, Peking University First Hospital, Beijing, 100034, China.
Ma Y; Department of Central Laboratory, Peking University First Hospital, Beijing, 100034, China.
Pokaż więcej
Źródło:
BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2024 Feb 01; Vol. 24 (1), pp. 101. Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Corpus Callosum*/diagnostic imaging
Corpus Callosum*/pathology
Ultrasonography, Prenatal*
Agenesis of Corpus Callosum*
Pregnancy ; Child ; Female ; Humans ; Retrospective Studies ; Prognosis ; Fetus ; Prenatal Diagnosis
SCR Disease Name:
Partial agenesis of corpus callosum
Czasopismo naukowe
Tytuł:
Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate.
Autorzy:
Kocaaga A; Medical Genetics Department, Eskişehir City Hospital, Eskişehir Şehir Hastanesi, 71 Evler Mahallesi, Çavdarlar Sokak, TR 26080 Odunpazarı, Eskişehir, Turkiye. Electronic address: .
Bildirici Y; Department of Pediatrics, Eskişehir City Hospital, Eskişehir Şehir Hastanesi, 71 Evler Mahallesi, Çavdarlar Sokak, TR 26080 Odunpazarı, Eskişehir, Turkiye.
Yimenicioglu S; Department of Pediatric Neurology, Eskişehir City Hospital, Eskişehir Şehir Hastanesi, 71 Evler Mahallesi, Çavdarlar Sokak, TR 26080 Odunpazarı Eskişehir, Turkiye.
Karademir-Arslan NC; Department of Pediatric Neurology, Eskişehir City Hospital, Eskişehir Şehir Hastanesi, 71 Evler Mahallesi, Çavdarlar Sokak, TR 26080 Odunpazarı Eskişehir, Turkiye.
Vural C; Department of Pediatric Cardiology, Eskişehir City Hospital, Eskişehir Şehir Hastanesi, 71 Evler Mahallesi, Çavdarlar Sokak, TR 26080 Odunpazarı, Eskişehir, Turkiye.
Yildirim E; Department Neonatal Intensive Care, Eskişehir City Hospital, Eskişehir Şehir Hastanesi, 71 Evler Mahallesi, Çavdarlar Sokak, TR 26080 Odunpazarı, Eskişehir, Turkiye.
Pokaż więcej
Źródło:
Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2024 Jan; Vol. 236, pp. 108045. Date of Electronic Publication: 2023 Nov 04.
Typ publikacji:
Case Reports
MeSH Terms:
Cleft Lip*/complications
Cleft Palate*/complications
Lipoma*/complications
Lipoma*/diagnostic imaging
Lipoma*/genetics
Coloboma*
Nasal Polyps*
Skin Diseases*
Agenesis of Corpus Callosum*
Infant, Newborn ; Humans ; Male ; Magnetic Resonance Imaging
SCR Disease Name:
Median cleft lip, corpus callosum, lipoma, and skin polyps
Raport
Tytuł:
Re: Too short or too long: impact of corpus callosal measurement on prenatal counseling.
Autorzy:
Corroenne R; Department of Obstetrics, Fetal Medicine and Surgery, Necker-Enfants Malades Hospital, APHP, Paris, France.; EA FETUS 7328 and LUMIERE Platform, University of Paris, Paris, France.
Mahallati H; Department of Radiology, University of Calgary, Calgary, Alberta, Canada.
Grevent D; EA FETUS 7328 and LUMIERE Platform, University of Paris, Paris, France.; Department of Radiology, Necker-Enfants Malades Hospital, APHP, Paris, France.
Salomon LJ; Department of Obstetrics, Fetal Medicine and Surgery, Necker-Enfants Malades Hospital, APHP, Paris, France.; EA FETUS 7328 and LUMIERE Platform, University of Paris, Paris, France.
Pokaż więcej
Źródło:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2024 Jan; Vol. 63 (1), pp. 124-125.
Typ publikacji:
Letter
MeSH Terms:
Agenesis of Corpus Callosum*
Corpus Callosum*
Female ; Humans ; Pregnancy ; Counseling ; Magnetic Resonance Imaging ; Prenatal Care
Opinia redakcyjna
Tytuł:
Too short or too long: impact of corpus callosal measurement on prenatal counseling.
Autorzy:
D'Antonio F; Center for Fetal Care and High-Risk Pregnancy, Department of Obstetrics and Gynecology, University of Chieti, Chieti, Italy.
Di Mascio D; Department of Maternal and Child Health and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Mappa I; Department of Obstetrics and Gynecology, Fondazione Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.
Rizzo G; Department of Obstetrics and Gynecology, Fondazione Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.
Pokaż więcej
Źródło:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2024 Jan; Vol. 63 (1), pp. 123-124.
Typ publikacji:
Letter
MeSH Terms:
Agenesis of Corpus Callosum*
Corpus Callosum*/diagnostic imaging
Female ; Humans ; Pregnancy ; Counseling ; Magnetic Resonance Imaging ; Prenatal Care
Opinia redakcyjna
Tytuł:
Threat and adaptation: The maternal lived experience of continuing pregnancy after receiving a prenatal diagnosis of agenesis of the corpus callosum.
Autorzy:
Shakes P; Faculty of Health, Southern Cross University, PO Box 157, Lismore, NSW, 2480, Australia. Electronic address: .
Cashin A; Faculty of Health, Southern Cross University, PO Box 157, Lismore, NSW, 2480, Australia. Electronic address: .
Hurley J; Faculty of Health, Southern Cross University, Hogbin Drive, Coffs Harbour, NSW, 2450, Australia. Electronic address: .
Pokaż więcej
Źródło:
Social science & medicine (1982) [Soc Sci Med] 2023 Dec; Vol. 339, pp. 116391. Date of Electronic Publication: 2023 Nov 08.
Typ publikacji:
Journal Article
MeSH Terms:
Corpus Callosum*/diagnostic imaging
Agenesis of Corpus Callosum*/diagnostic imaging
Pregnancy ; Female ; Humans ; Ultrasonography, Prenatal/methods ; Prenatal Diagnosis ; Prognosis
Czasopismo naukowe
Tytuł:
The "cortical invagination sign": a midtrimester sonographic marker of unilateral cortical focal dysgyria in fetuses with complete agenesis of the corpus callosum.
Autorzy:
Ramirez Zegarra R; Obstetrics and Gynaecology Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy (Drs Ramirez Zegarra and Volpe, Prof Dall'Asta, Drs Chiarelli, Labadini, di Pasquo, and Ghi).
Casati D; Fetal Therapy Unit 'U. Nicolini', Department of Women, Mother and Neonate, Vittore Buzzi Children's Hospital, Milan, Italy (Drs Casati and Lanna).
Volpe N; Obstetrics and Gynaecology Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy (Drs Ramirez Zegarra and Volpe, Prof Dall'Asta, Drs Chiarelli, Labadini, di Pasquo, and Ghi).
Lanna M; Fetal Therapy Unit 'U. Nicolini', Department of Women, Mother and Neonate, Vittore Buzzi Children's Hospital, Milan, Italy (Drs Casati and Lanna).
Dall'Asta A; Obstetrics and Gynaecology Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy (Drs Ramirez Zegarra and Volpe, Prof Dall'Asta, Drs Chiarelli, Labadini, di Pasquo, and Ghi).
Chiarelli A; Obstetrics and Gynaecology Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy (Drs Ramirez Zegarra and Volpe, Prof Dall'Asta, Drs Chiarelli, Labadini, di Pasquo, and Ghi).
Ormitti F; Neuroradiology Unit, University Hospital of Parma, Parma, Italy (Dr Ormitti).
Percesepe A; Department of Medicine and Surgery, Medical Genetics, University of Parma, Italy (Prof Percesepe).
Montaguti E; Department of Obstetrics and Fetal Medicine, Policlinico di Sant'Orsola Malpighi, Bologna, Italy (Drs Montaguti, Salsi, and Prof Pilu).
Labadini C; Obstetrics and Gynaecology Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy (Drs Ramirez Zegarra and Volpe, Prof Dall'Asta, Drs Chiarelli, Labadini, di Pasquo, and Ghi).
Salsi G; Department of Obstetrics and Fetal Medicine, Policlinico di Sant'Orsola Malpighi, Bologna, Italy (Drs Montaguti, Salsi, and Prof Pilu).
di Pasquo E; Obstetrics and Gynaecology Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy (Drs Ramirez Zegarra and Volpe, Prof Dall'Asta, Drs Chiarelli, Labadini, di Pasquo, and Ghi).
Bonasoni MP; Pathology Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy (Dr Bonasoni).
Quarello E; Department of Obstetrics and Gynecology, Hospital Saint Joseph, Marseille, France (Dr Quarello).
Pilu G; Department of Obstetrics and Fetal Medicine, Policlinico di Sant'Orsola Malpighi, Bologna, Italy (Drs Montaguti, Salsi, and Prof Pilu).
Grisolia G; Department of High-Risk Pregnancy, Mantova Ospedale C. Poma, Mantua, Italy (Dr Grisolia).
Righini A; Department of Radiology and Pediatric Neuroradiology, Vittore Buzzi Children's Hospital, Milan, Italy (Prof Righini).
Ghi T; Obstetrics and Gynaecology Unit, Department of Medicine and Surgery, University of Parma, Parma, Italy (Drs Ramirez Zegarra and Volpe, Prof Dall'Asta, Drs Chiarelli, Labadini, di Pasquo, and Ghi). Electronic address: .
Pokaż więcej
Źródło:
American journal of obstetrics & gynecology MFM [Am J Obstet Gynecol MFM] 2023 Dec; Vol. 5 (12), pp. 101198. Date of Electronic Publication: 2023 Oct 20.
Typ publikacji:
Journal Article
MeSH Terms:
Corpus Callosum*/diagnostic imaging
Corpus Callosum*/pathology
Agenesis of Corpus Callosum*/diagnostic imaging
Agenesis of Corpus Callosum*/pathology
Pregnancy ; Humans ; Male ; Female ; Pregnancy Trimester, Second ; Prenatal Diagnosis ; Retrospective Studies ; Ultrasonography, Prenatal/methods ; Gestational Age ; Fetus
Czasopismo naukowe
Tytuł:
Prenatal ultrasound for the diagnosis of the agenesis of corpus callosum: a meta-analysis.
Autorzy:
Zhang Y; Department of Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
Pokaż więcej
Źródło:
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians [J Matern Fetal Neonatal Med] 2023 Dec; Vol. 36 (2), pp. 2228454.
Typ publikacji:
Meta-Analysis; Journal Article
MeSH Terms:
Agenesis of Corpus Callosum*/diagnostic imaging
Prenatal Diagnosis*/methods
Pregnancy ; Female ; Humans ; Ultrasonography, Prenatal/methods ; Magnetic Resonance Imaging/methods ; Ultrasonography
Czasopismo naukowe
Tytuł:
3D ultrasound angioscan with MV-Flow™: Enhancing fetal brain low-flow microvascular neuroimaging.
Autorzy:
Tonni G; Department of Obstetrics and Neonatology, and Researcher, Istituto di Ricovero e Cura a Carattere Scientifico, Azienda Unita' Sanitaria Locale di Reggio Emilia, Reggio Emilia, Italy.
Pinto A; Department of Obstetrics and Gynecology, Carlo Poma Hospital, Azienda Socio Sanitaria Territoriale di Mantova, Mantua, Italy.
Bianchi A; Department of Obstetrics and Gynecology, Carlo Poma Hospital, Azienda Socio Sanitaria Territoriale di Mantova, Mantua, Italy.
Pisello M; Department of Obstetrics and Gynecology, Carlo Poma Hospital, Azienda Socio Sanitaria Territoriale di Mantova, Mantua, Italy.
Grisolia G; Department of Obstetrics and Gynecology, Carlo Poma Hospital, Azienda Socio Sanitaria Territoriale di Mantova, Mantua, Italy.
Pokaż więcej
Źródło:
Journal of clinical ultrasound : JCU [J Clin Ultrasound] 2023 Nov-Dec; Vol. 51 (9), pp. 1502-1504. Date of Electronic Publication: 2023 Sep 20.
Typ publikacji:
Case Reports
MeSH Terms:
Agenesis of Corpus Callosum*
Ultrasonography, Prenatal*/methods
Female ; Pregnancy ; Humans ; Magnetic Resonance Imaging/methods ; Corpus Callosum/diagnostic imaging ; Neuroimaging ; Fetus/diagnostic imaging ; Gestational Age
Raport
Tytuł:
Neuropsychological profiles of children with agenesis of the corpus callosum: A scoping review.
Autorzy:
Wright A; Child and Adolescent Mental Health Services, NHS Forth Valley, Stirling, UK.
Booth R; Cognitive Neuroscience and Neuropsychiatry Section, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, UK.
Pokaż więcej
Źródło:
Developmental medicine and child neurology [Dev Med Child Neurol] 2023 Sep; Vol. 65 (9), pp. 1141-1149. Date of Electronic Publication: 2023 Feb 03.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Corpus Callosum*
Agenesis of Corpus Callosum*/complications
Agenesis of Corpus Callosum*/diagnosis
Adult ; Humans ; Child ; Aged ; Executive Function
Czasopismo naukowe
Tytuł:
Tolvaptan for Treatment of Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) in a Child with Corpus Callosum Agenesis.
Autorzy:
Meena AK; Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Nanda PM; Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, Room No. 3058, Teaching Block, New Delhi, 110029, India.
Sharma R; Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, Room No. 3058, Teaching Block, New Delhi, 110029, India. .
Chakrabarty B; Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Gulati S; Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Pokaż więcej
Źródło:
Indian journal of pediatrics [Indian J Pediatr] 2024 Feb; Vol. 91 (2), pp. 188-190. Date of Electronic Publication: 2023 Feb 09.
Typ publikacji:
Journal Article
MeSH Terms:
Inappropriate ADH Syndrome*/complications
Inappropriate ADH Syndrome*/drug therapy
Hyponatremia*/drug therapy
Hyponatremia*/etiology
Heart Failure*/complications
Adult ; Female ; Child ; Humans ; Tolvaptan/therapeutic use ; Agenesis of Corpus Callosum/complications ; Agenesis of Corpus Callosum/drug therapy ; Antidiuretic Hormone Receptor Antagonists/therapeutic use ; Vasopressins/therapeutic use
Czasopismo naukowe
Tytuł:
Syndrome of megalencephaly, mega corpus callosum, and complete lack of motor development: an unusual case and a literature review.
Autorzy:
Cetin EB; Department of Radiology, Rize State Hospital, Rize, Turkey. .
Bilgici MNC; Department of Radiology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
Tuncer GO; Department of Pediatric Neurology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
Karabag IS; Department of Radiology, Samsun Training and Research Hospital, Samsun, Turkey.
Aydin S; Department of Pediatric Neurology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey.
Pokaż więcej
Źródło:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2024 Jan; Vol. 40 (1), pp. 219-225. Date of Electronic Publication: 2023 Sep 09.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
Nervous System Malformations*
Megalencephaly*/complications
Megalencephaly*/diagnostic imaging
Child ; Humans ; Corpus Callosum/diagnostic imaging ; Agenesis of Corpus Callosum/complications ; Agenesis of Corpus Callosum/diagnostic imaging ; Syndrome
Czasopismo naukowe
Tytuł:
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Autorzy:
Fetta, Anna (AUTHOR)
Toni, Francesco (AUTHOR)
Pettenuzzo, Ilaria (AUTHOR)
Ricci, Emilia (AUTHOR)
Rocca, Alessandro (AUTHOR)
Gambi, Caterina (AUTHOR)
Soliani, Luca (AUTHOR)
Di Pisa, Veronica (AUTHOR)
Martini, Silvia (AUTHOR)
Sperti, Giacomo (AUTHOR)
Cagnazzo, Valeria (AUTHOR)
Accorsi, Patrizia (AUTHOR)
Bartolini, Emanuele (AUTHOR)
Battaglia, Domenica (AUTHOR)
Bernardo, Pia (AUTHOR)
Canevini, Maria Paola (AUTHOR)
Ferrari, Anna Rita (AUTHOR)
Giordano, Lucio (AUTHOR)
Locatelli, Chiara (AUTHOR)
Mancardi, Margherita (AUTHOR)
Pokaż więcej
Źródło:
Orphanet Journal of Rare Diseases. 3/8/2024, Vol. 19 Issue 1, p1-15. 15p.
Czasopismo naukowe
Tytuł:
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements.
Autorzy:
Prato, Adriana (AUTHOR)
Cirnigliaro, Lara (AUTHOR)
Maugeri, Federica (AUTHOR)
Luca, Antonina (AUTHOR)
Giuliano, Loretta (AUTHOR)
Vitiello, Giuseppina (AUTHOR)
Errichiello, Edoardo (AUTHOR)
Valente, Enza Maria (AUTHOR)
Del Giudice, Ennio (AUTHOR)
Mostile, Giovanni (AUTHOR)
Rizzo, Renata (AUTHOR)
Barone, Rita (AUTHOR)
Pokaż więcej
Źródło:
Journal of Clinical Medicine. Feb2024, Vol. 13 Issue 4, p1109. 12p.
Czasopismo naukowe
Tytuł:
Neurosonographic evaluation of corpus callosum-fastigium and tectal length in late-onset small fetuses.
Autorzy:
Tan Y; Department of Ultrasonography, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
Wang L; Department of Ultrasonography, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
Qi X; Department of Ultrasonography, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
Luo H; Department of Ultrasonography, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, China.
Pokaż więcej
Źródło:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2024 Mar; Vol. 63 (3), pp. 430-431. Date of Electronic Publication: 2024 Feb 10.
Typ publikacji:
Letter
MeSH Terms:
Corpus Callosum*/diagnostic imaging
Brain*
Pregnancy ; Humans ; Female ; Agenesis of Corpus Callosum ; Fourth Ventricle ; Fetus
Opinia redakcyjna
Tytuł:
Iatrogenic Shapiro syndrome: a case report.
Autorzy:
Ferrer Tarrés R; Neurology Department, University Hospital of Girona Doctor Josep Trueta, Avinguda de França S/N, 17007, Girona, Spain. .
Garcia Huguet M; Neurology Department, University Hospital of Girona Doctor Josep Trueta, Avinguda de França S/N, 17007, Girona, Spain.
Vera Cáceres C; Neurology Department, University Hospital of Girona Doctor Josep Trueta, Avinguda de França S/N, 17007, Girona, Spain.
Boix Lago A; Neurology Department, University Hospital of Girona Doctor Josep Trueta, Avinguda de França S/N, 17007, Girona, Spain.
Ramió Torrentà L; Neurology Department, University Hospital of Girona Doctor Josep Trueta, Avinguda de França S/N, 17007, Girona, Spain.; Neurodegeneration and Neuroiflammation research group, Biomedical Research Institute of Girona (IDIBGI), Girona, Spain.; Department of Medical Sciences, Faculty of Medicine, University of Girona, Girona, Spain.
Álvarez-Bravo G; Neurology Department, University Hospital of Girona Doctor Josep Trueta, Avinguda de França S/N, 17007, Girona, Spain.; Neurodegeneration and Neuroiflammation research group, Biomedical Research Institute of Girona (IDIBGI), Girona, Spain.; Department of Medical Sciences, Faculty of Medicine, University of Girona, Girona, Spain.
Pokaż więcej
Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Mar; Vol. 45 (3), pp. 1267-1270. Date of Electronic Publication: 2023 Dec 28.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Hypothermia*/complications
Hyperhidrosis*/complications
Female ; Humans ; Middle Aged ; Agenesis of Corpus Callosum ; Corpus Callosum/pathology ; Magnetic Resonance Imaging ; Iatrogenic Disease
SCR Disease Name:
Shapiro syndrome
Czasopismo naukowe
Tytuł:
Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype.
Autorzy:
Brabbing-Goldstein D; Raphael Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel.; Ultrasound Unit, Helen Schneider Women's Hospital, Rabin Medical Center, Petah Tikva, Israel.
Kozlova D; Department of Pathology, Rabin Medical Center, Petah Tikva, Israel.
Bazak L; Raphael Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel.
Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Gilboa Y; Ultrasound Unit, Helen Schneider Women's Hospital, Rabin Medical Center, Petah Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Marciano-Levi I; Department of Pathology, Rabin Medical Center, Petah Tikva, Israel.
Zahra J; Genetics Institute, Soroka Medical Center, Beer Sheva, Israel.
Kanengisser-Pines B; Genetics Institute, Soroka Medical Center, Beer Sheva, Israel.
Botvinik A; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Kurolap A; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Birnbaum R; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Division of Ultrasound in Obstetrics and Gynecology, Lis Maternity and Hospital for Women's Health, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Yaron Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Pokaż więcej
Źródło:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2024 Mar; Vol. 63 (3), pp. 392-398.
Typ publikacji:
Multicenter Study; Journal Article
MeSH Terms:
Hydrops Fetalis*
Cysts*
Mitochondrial Diseases*
Electron Transport Complex I/*deficiency
Female ; Pregnancy ; Humans ; Retrospective Studies ; Phenotype ; Agenesis of Corpus Callosum ; Methyltransferases ; Mitochondrial Proteins/genetics
SCR Disease Name:
Mitochondrial complex I deficiency
Czasopismo naukowe
Tytuł:
Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.
Autorzy:
Zhang X; Postgrad Training Base Jinzhou Med Univ, Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276003, PR China; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276003, PR China.
Han Y; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276003, PR China.
Yang L; Postgrad Training Base Jinzhou Med Univ, Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276003, PR China; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276003, PR China. Electronic address: .
Xu N; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276003, PR China.
Zhu L; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276003, PR China.
Qiu S; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276003, PR China.
Li Y; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276003, PR China.
Xu L; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276003, PR China.
Yu X; Department of Pediatrics, Linyi People's Hospital, Linyi, Shandong 276003, PR China.
Pokaż więcej
Źródło:
Seizure [Seizure] 2024 Jan; Vol. 114, pp. 111-120. Date of Electronic Publication: 2023 Dec 14.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
Autism Spectrum Disorder*/genetics
Autism Spectrum Disorder*/complications
Epilepsy*/complications
Nervous System Malformations*/complications
Child ; Male ; Humans ; Agenesis of Corpus Callosum/complications ; Muscle Hypotonia/complications ; Phenotype ; Nerve Tissue Proteins/genetics
Czasopismo naukowe
Tytuł:
Long-term outcome of consecutive case series of congenital isolated agenesis of corpus callosum.
Autorzy:
Lanna M; Fetal Therapy Unit 'U. Nicolini', Vittore Buzzi Children's Hospital, Milan, Italy.; Department of Women, Mother and Neonate, Vittore Buzzi Children's Hospital, University of Milan, Milan, Italy.
Scelsa B; Department of Pediatric Neurology, Vittore Buzzi Children's Hospital, University of Milan, Milan, Italy.
Cutillo G; Department of Pediatric Neurology, Vittore Buzzi Children's Hospital, University of Milan, Milan, Italy.
Amendolara M; Department of Women, Mother and Neonate, Vittore Buzzi Children's Hospital, University of Milan, Milan, Italy.
Doneda C; Department of Radiology and Neuroradiology, Vittore Buzzi Children's Hospital, University of Milan, Milan, Italy.
Balestriero M; Department of Pediatric Neurology, Vittore Buzzi Children's Hospital, University of Milan, Milan, Italy.
Faiola S; Fetal Therapy Unit 'U. Nicolini', Vittore Buzzi Children's Hospital, Milan, Italy.; Department of Women, Mother and Neonate, Vittore Buzzi Children's Hospital, University of Milan, Milan, Italy.
Casati D; Fetal Therapy Unit 'U. Nicolini', Vittore Buzzi Children's Hospital, Milan, Italy.; Department of Women, Mother and Neonate, Vittore Buzzi Children's Hospital, University of Milan, Milan, Italy.
Spaccini L; Clinical Genetic Service, Vittore Buzzi Children's Hospital, University of Milan, Milan, Italy.
Cetin I; Department of Women, Mother and Neonate, Vittore Buzzi Children's Hospital, University of Milan, Milan, Italy.
Pokaż więcej
Źródło:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2022 Oct; Vol. 60 (4), pp. 494-498.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Agenesis of Corpus Callosum*/diagnostic imaging
Agenesis of Corpus Callosum*/genetics
Corpus Callosum*/diagnostic imaging
Chloride Channels/genetics ; Comparative Genomic Hybridization ; Female ; Humans ; Magnetic Resonance Imaging ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Retrospective Studies ; Ultrasonography, Prenatal
Czasopismo naukowe

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