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Wyszukujesz frazę ""Microcephaly"" wg kryterium: Temat


Starter badań:

Tytuł:
Microcephaly with a disproportionate hippocampal reduction, stem cell loss and neuronal lipid droplet symptoms in Trappc9 KO mice.
Autorzy:
Aljuraysi S; Department of Biochemistry, Cell and Systems Biology, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK; Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Platt M; Department of Molecular and Clinical Cancer Medicine, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK; Centre for Preclinical Imaging, University of Liverpool, Liverpool, UK.
Pulix M; Department of Biochemistry, Cell and Systems Biology, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK.
Poptani H; Department of Molecular and Clinical Cancer Medicine, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK; Centre for Preclinical Imaging, University of Liverpool, Liverpool, UK. Electronic address: .
Plagge A; Department of Biochemistry, Cell and Systems Biology, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, UK; Centre for Preclinical Imaging, University of Liverpool, Liverpool, UK. Electronic address: .
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Źródło:
Neurobiology of disease [Neurobiol Dis] 2024 Mar; Vol. 192, pp. 106431. Date of Electronic Publication: 2024 Feb 07.
Typ publikacji:
Journal Article
MeSH Terms:
Microcephaly*/genetics
Microcephaly*/metabolism
Animals ; Female ; Humans ; Male ; Mice ; Diffusion Tensor Imaging ; Lipid Droplets ; Mice, Knockout ; Neurons/metabolism
Czasopismo naukowe
Tytuł:
A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.
Autorzy:
Fellows BJ; Department of Biochemistry, University of Otago, Dunedin, New Zealand.
Tolezano GC; Human Genome and Stem Cell Research Center, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.
Pires SF; Human Genome and Stem Cell Research Center, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.
Ruegg MSG; Department of Biochemistry, University of Otago, Dunedin, New Zealand.
Knapp KM; Department of Biochemistry, University of Otago, Dunedin, New Zealand.
Krepischi ACV; Human Genome and Stem Cell Research Center, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.
Bicknell LS; Department of Biochemistry, University of Otago, Dunedin, New Zealand.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63468. Date of Electronic Publication: 2023 Nov 08.
Typ publikacji:
Case Reports
MeSH Terms:
Kinetochores*/metabolism
Kinetochores*/pathology
Microcephaly*/genetics
Microcephaly*/pathology
Humans ; Cell Cycle Proteins/genetics ; Microtubule-Associated Proteins/genetics ; Mutation
Raport
Tytuł:
A Zika virus protein expression screen in Drosophila to investigate targeted host pathways during development.
Autorzy:
Link N; Department of Neurobiology, University of Utah, Salt Lake City, UT, 84112, USA.; Howard Hughes Medical Institute, Baylor College of Medicine (BCM), Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, BCM, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.
Harnish JM; Department of Molecular and Human Genetics, BCM, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.
Hull B; Department of Molecular and Human Genetics, BCM, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; Postbaccalaureate Research Education Program (PREP), Houston, TX, 77030, USA.
Gibson S; Department of Molecular and Human Genetics, BCM, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.
Dietze M; Department of Neurobiology, University of Utah, Salt Lake City, UT, 84112, USA.
Mgbike UE; Department of Neurobiology, University of Utah, Salt Lake City, UT, 84112, USA.
Medina-Balcazar S; Department of Molecular and Human Genetics, BCM, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.
Shah PS; Department of Chemical Engineering, Department of Microbiology and Molecular Genetics, University of California, Davis, CA, 95616, USA.
Yamamoto S; Department of Molecular and Human Genetics, BCM, Houston, TX, 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; Postbaccalaureate Research Education Program (PREP), Houston, TX, 77030, USA.; Department of Neuroscience, BCM, Houston, TX, 77030, USA.; Development, Disease Models & Therapeutics Graduate Program, BCM, Houston, TX, 77030, USA.
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Źródło:
Disease models & mechanisms [Dis Model Mech] 2024 Feb 01; Vol. 17 (2). Date of Electronic Publication: 2024 Feb 28.
Typ publikacji:
Journal Article
MeSH Terms:
Zika Virus*/metabolism
Zika Virus Infection*
Microcephaly*/epidemiology
Microcephaly*/etiology
Animals ; Drosophila ; Drosophila melanogaster
Czasopismo naukowe
Tytuł:
Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.
Autorzy:
Liu J; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, People's Republic of China.
Liu Q; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, People's Republic of China.
Zhao J; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, People's Republic of China.
Lin S; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, People's Republic of China. Electronic address: .
Zhou Y; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, People's Republic of China. Electronic address: .
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Źródło:
European journal of obstetrics, gynecology, and reproductive biology [Eur J Obstet Gynecol Reprod Biol] 2024 Feb; Vol. 293, pp. 57-66. Date of Electronic Publication: 2023 Dec 12.
Typ publikacji:
Journal Article
MeSH Terms:
Microcephaly*/diagnostic imaging
Microcephaly*/genetics
Humans ; Pregnancy ; Female ; Retrospective Studies ; Chromosome Aberrations ; Fetus/diagnostic imaging ; Genetic Counseling ; Prenatal Diagnosis/methods ; Ultrasonography, Prenatal
Czasopismo naukowe
Tytuł:
Novel PNKP mutations associated with reduced DNA single-strand break repair and severe microcephaly, seizures, and developmental delay.
Autorzy:
Thuresson AC; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
Brazina J; Genome Damage and Stability Centre, University of Sussex, Brighton, UK.
Akram T; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
Albrecht J; Department of Pediatrics, Falun Hospital, Falun, Sweden.
Dahl N; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
Soussi Zander C; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
Caldecott KW; Genome Damage and Stability Centre, University of Sussex, Brighton, UK.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2295. Date of Electronic Publication: 2023 Nov 02.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
DNA Repair Enzymes*/genetics
DNA Repair Enzymes*/metabolism
Microcephaly*/genetics
Microcephaly*/pathology
Humans ; Mutation ; Seizures/genetics ; DNA ; Phosphoric Monoester Hydrolases/genetics ; Phosphotransferases (Alcohol Group Acceptor)/genetics ; Phosphotransferases (Alcohol Group Acceptor)/metabolism
Czasopismo naukowe
Tytuł:
Cohen syndrome combined with psychiatric symptoms: a case report.
Autorzy:
Li X; Shandong Mental Health Center, Shandong University, Mail Code: 250014, 49# Wenhua Eastern Road, Jinan, Shandong Province, P.R. China.
Qi S; Shandong Mental Health Center, Shandong University, Mail Code: 250014, 49# Wenhua Eastern Road, Jinan, Shandong Province, P.R. China.
Li W; Shandong Mental Health Center, Shandong University, Mail Code: 250014, 49# Wenhua Eastern Road, Jinan, Shandong Province, P.R. China.
Liu X; Shandong Mental Health Center, Shandong University, Mail Code: 250014, 49# Wenhua Eastern Road, Jinan, Shandong Province, P.R. China.
Xue Z; Shandong Mental Health Center, Shandong University, Mail Code: 250014, 49# Wenhua Eastern Road, Jinan, Shandong Province, P.R. China.
Yu T; Shandong Mental Health Center, Shandong University, Mail Code: 250014, 49# Wenhua Eastern Road, Jinan, Shandong Province, P.R. China. .
Xun G; Shandong Mental Health Center, Shandong University, Mail Code: 250014, 49# Wenhua Eastern Road, Jinan, Shandong Province, P.R. China. .
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Źródło:
BMC psychiatry [BMC Psychiatry] 2024 Mar 04; Vol. 24 (1), pp. 180. Date of Electronic Publication: 2024 Mar 04.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Microcephaly*/diagnosis
Microcephaly*/genetics
Obesity*
Intellectual Disability*
Myopia*
Muscle Hypotonia*
Retinal Degeneration*
Fingers/*abnormalities
Child ; Humans ; Child, Preschool ; Adult ; Documentation ; Developmental Disabilities
SCR Disease Name:
Cohen syndrome
Czasopismo naukowe
Tytuł:
Loss-of-function of kinesin-5 KIF11 causes microcephaly, chorioretinopathy, and developmental disorders through chromosome instability and cell cycle arrest.
Autorzy:
Zhou Y; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China.
Xu MF; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China.
Chen J; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China.
Zhang JL; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China.
Wang XY; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China.
Huang MH; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China.
Wei YL; Medical Research Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, 350001, China; College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, 350122, China.
She ZY; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China. Electronic address: .
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Źródło:
Experimental cell research [Exp Cell Res] 2024 Mar 01; Vol. 436 (1), pp. 113975. Date of Electronic Publication: 2024 Feb 16.
Typ publikacji:
Journal Article
MeSH Terms:
Facies*
Lymphedema*
Microcephaly*/genetics
Retinal Diseases*
Retinal Dysplasia*
Animals ; Cell Cycle Checkpoints/genetics ; Chromosomal Instability ; Developmental Disabilities ; Kinesins/genetics ; Kinesins/metabolism ; Phenotype ; Zebrafish/genetics ; Zebrafish/metabolism
SCR Disease Name:
Lymphedema, microcephaly and chorioretinopathy syndrome
Czasopismo naukowe
Tytuł:
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Autorzy:
Tolezano GC; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil.
Bastos GC; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil.
da Costa SS; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil.
Freire BL; Unidade de Endocrinologia Genética (LIM25), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 455 Avenida Doutor Arnaldo, São Paulo, SP, 01246-903, Brazil.
Homma TK; Unidade de Endocrinologia Genética (LIM25), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 455 Avenida Doutor Arnaldo, São Paulo, SP, 01246-903, Brazil.
Honjo RS; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 647 Avenida Doutor Enéas Carvalho de Aguiar, São Paulo, SP, 05403-900, Brazil.
Yamamoto GL; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil.; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 647 Avenida Doutor Enéas Carvalho de Aguiar, São Paulo, SP, 05403-900, Brazil.
Passos-Bueno MR; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil.
Koiffmann CP; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil.
Kim CA; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 647 Avenida Doutor Enéas Carvalho de Aguiar, São Paulo, SP, 05403-900, Brazil.
Vianna-Morgante AM; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil.
de Lima Jorge AA; Unidade de Endocrinologia Genética (LIM25), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 455 Avenida Doutor Arnaldo, São Paulo, SP, 01246-903, Brazil.
Bertola DR; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil.; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 647 Avenida Doutor Enéas Carvalho de Aguiar, São Paulo, SP, 05403-900, Brazil.
Rosenberg C; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil.
Krepischi ACV; Department of Genetics and Evolutionary Biology, Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, 106 Rua do Matão, São Paulo, SP, 05508-090, Brazil. .; Institute of Biosciences, University of São Paulo, 277 Rua do Matão, São Paulo, SP, 05508-090, Brazil. .
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Mar; Vol. 54 (3), pp. 1181-1212. Date of Electronic Publication: 2022 Dec 11.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Microcephaly*/genetics
Autism Spectrum Disorder*
Humans ; Brazil ; DNA Copy Number Variations/genetics ; Databases, Factual ; Syndrome
Czasopismo naukowe
Tytuł:
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
Autorzy:
Furukawa S; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Nomura T; Department of Pediatrics, Kawaguchi Municipal Medical Center, Saitama, Japan.
Sumitomo N; Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
Yoneno S; Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63453. Date of Electronic Publication: 2023 Oct 23.
Typ publikacji:
Case Reports
MeSH Terms:
Microcephaly*/diagnosis
Microcephaly*/genetics
Migraine with Aura*
Male ; Humans ; Hypokinesia ; Sodium-Potassium-Exchanging ATPase/genetics ; Hemiplegia ; Syndrome
Raport
Tytuł:
MFSD2A frameshift variant in Kerry Hill sheep with microcephaly.
Autorzy:
Rudd Garces G; Institute of Animal Breeding and Genetics, Justus Liebig University Giessen, Giessen, Germany.
Letko A; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Häfliger IM; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Müller J; Institute for Veterinary Pathology, Justus Liebig University Giessen, Giessen, Germany.
Herden C; Institute for Veterinary Pathology, Justus Liebig University Giessen, Giessen, Germany.; Center for Mind, Brain and Behavior, Justus Liebig University Giessen, Giessen, Germany.
Nesseler A; Landeslabor Hessen, Giessen, Germany.
Wagner H; Veterinary Clinic for Reproduction and Neonatology, Justus Liebig University, Giessen, Germany.
Schmidt MJ; Clinic for Small Animals, Neurosurgery, Neuroradiology and Clinical Neurology, Justus Liebig University Giessen, Giessen, Germany.
Drögemüller C; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Lühken G; Institute of Animal Breeding and Genetics, Justus Liebig University Giessen, Giessen, Germany.
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Źródło:
Animal genetics [Anim Genet] 2024 Feb; Vol. 55 (1), pp. 152-157. Date of Electronic Publication: 2023 Nov 03.
Typ publikacji:
Journal Article
MeSH Terms:
Microcephaly*/genetics
Microcephaly*/veterinary
Microcephaly*/metabolism
Symporters*/genetics
Sheep Diseases*/genetics
Humans ; Sheep/genetics ; Animals ; Brain/metabolism ; Blood-Brain Barrier/metabolism ; Blood-Brain Barrier/pathology ; Frameshift Mutation ; Sheep, Domestic/genetics ; Sheep, Domestic/metabolism ; Animals, Domestic/genetics ; Pedigree
Czasopismo naukowe
Tytuł:
Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases.
Autorzy:
Cabet S; Pediatric and Fetal Imaging Department, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.; Institut NeuroMyoGène, CNRS UMR5292, INSERM U1028, Claude Bernard Lyon 1 University, Lyon, France.; Multidisciplinary Center for Prenatal Diagnosis, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.
Putoux A; Multidisciplinary Center for Prenatal Diagnosis, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.
Lesca G; Institut NeuroMyoGène, CNRS UMR5292, INSERM U1028, Claude Bernard Lyon 1 University, Lyon, France.; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.
Lesage A; Department of Medical Imaging, CHU Sainte-Justine, Montréal, QC, Canada.
Massoud M; Department of Gynecology and Obstetrics, Multidisciplinary Center for Prenatal Diagnosis, CHLS, Hospices Civils de Lyon, Lyon, France.
Guibaud L; Pediatric and Fetal Imaging Department, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.; Multidisciplinary Center for Prenatal Diagnosis, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.
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Corporate Authors:
Collaborators
Źródło:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2024 Feb; Vol. 63 (2), pp. 271-275. Date of Electronic Publication: 2024 Jan 11.
Typ publikacji:
Case Reports
MeSH Terms:
Microcephaly*/diagnostic imaging
Polymicrogyria*
Nervous System Malformations*
Lissencephaly*
Child ; Female ; Pregnancy ; Humans ; Retrospective Studies ; Prenatal Diagnosis ; Magnetic Resonance Imaging/methods ; Ultrasonography, Prenatal/methods
SCR Disease Name:
Microcephaly with Simplified Gyral Pattern
Raport
Tytuł:
Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.
Autorzy:
Sarli A; Gorgan Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran.
Al Sudani ZM; Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran.
Vaghefi F; Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran.
Motallebi F; Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran.
Khosravi T; Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran.
Rezaie N; Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran.
Oladnabi M; Gorgan Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran. .; Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran. .; Ischemic Disorders Research Center, Golestan University of Medical Sciences, Gorgan, Iran. .
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Źródło:
Molecular biology reports [Mol Biol Rep] 2024 Jan 22; Vol. 51 (1), pp. 181. Date of Electronic Publication: 2024 Jan 22.
Typ publikacji:
Journal Article
MeSH Terms:
Microcephaly*/genetics
Cognitive Dysfunction*
Male ; Humans ; Iran ; Consanguinity ; Mutant Proteins ; Mutation/genetics
Czasopismo naukowe
Tytuł:
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
Autorzy:
Li N; Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China; Shanghai Key Laboratory of Embryo Original Diseases, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China; Faculty of Medical Laboratory Science, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Xu Y; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Chen H; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Lin J; Shanghai Key Laboratory of Embryo Original Diseases, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China.
AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh, 11533, Saudi Arabia.
Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Texas Children's Hospital, Houston, TX, 77030, USA; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
Li G; Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China; Shanghai Key Laboratory of Embryo Original Diseases, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China.
Gofin Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Texas Children's Hospital, Houston, TX, 77030, USA.
Bekheirnia N; Texas Children's Hospital, Houston, TX, 77030, USA; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, 11533, Saudi Arabia.
Chen L; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Chang G; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Tang J; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Yao R; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China; Faculty of Medical Laboratory Science, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Yu T; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China; Faculty of Medical Laboratory Science, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Wang X; Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Fu W; Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Fu Q; Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China; Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai, 200127, China.
Shen Y; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.
Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Texas Children's Hospital, Houston, TX, 77030, USA. Electronic address: .
Wang J; Shanghai Key Laboratory of Embryo Original Diseases, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200030, China; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China; Faculty of Medical Laboratory Science, College of Health Science and Technology, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China; Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai, 200127, China. Electronic address: .
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Źródło:
EBioMedicine [EBioMedicine] 2024 Jan; Vol. 99, pp. 104940. Date of Electronic Publication: 2023 Dec 27.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/genetics
Microcephaly*/genetics
Child ; Humans ; Cell Cycle/genetics ; Centrioles/genetics ; Centrioles/metabolism ; Proteins/metabolism
Czasopismo naukowe
Tytuł:
A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro).
Autorzy:
Grosch S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Kehrer M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Bevot A; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2310. Date of Electronic Publication: 2023 Oct 30.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Microcephaly*/genetics
Microcephaly*/pathology
Neurodevelopmental Disorders*/genetics
Nervous System Malformations*
Deafness*
Humans ; Female ; Middle Aged ; Virulence
Czasopismo naukowe
Tytuł:
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.
Autorzy:
Aoki S; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, 431-3192, Japan.; Advanced Research Facilities & Services, Preeminent Medical Photonics Education & Research Center, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Watanabe K; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, 431-3192, Japan.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
Konishi Y; Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan.
Kubota K; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.; Division of Clinical Genetics, Gifu University Hospital, Gifu, Japan.
Kobayashi E; Department of Pediatrics, Gifu Prefectural General Medical Center, Gifu, Japan.
Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, 431-3192, Japan. .
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu, 431-3192, Japan. .
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Źródło:
Neurogenetics [Neurogenetics] 2024 Jan; Vol. 25 (1), pp. 3-11. Date of Electronic Publication: 2023 Oct 26.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Microcephaly*/genetics
Arthrogryposis*/genetics
Neurodevelopmental Disorders*/genetics
Nervous System Malformations*
Intellectual Disability*/genetics
Male ; Humans ; Cerebellum
Czasopismo naukowe
Tytuł:
Growth charts in DYRK1A syndrome.
Autorzy:
Lanvin PL; Service de génétique médicale, CHU de Nantes, Nantes, France.
Goronflot T; Pôle Hospitalo-Universitaire 11: Santé Publique, Clinique des données, CHU Nantes, Nantes Université, Nantes, France.; INSERM, CIC 1413, Nantes, France.
Isidor B; Service de génétique médicale, CHU de Nantes, Nantes, France.; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
Nizon M; Service de génétique médicale, CHU de Nantes, Nantes, France.; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
Durand B; Service de génétique médicale, CHU de Strasbourg, Strasbourg, France.
El Chehadeh S; Service de génétique médicale, CHU de Strasbourg, Strasbourg, France.
Geneviève D; Reference Centre AD SOOR, AnDDI-RARE, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.; Université Montpellier, INSERM U1183, Montpellier, France.
Ruault V; Reference Centre AD SOOR, AnDDI-RARE, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.
Fradin M; Service de génétique médicale, CHU de Rennes, Rennes, France.
Pasquier L; Service de génétique médicale, CHU de Rennes, Rennes, France.
Thévenon J; Service de génétique médicale, CHU de Grenoble, Grenoble, France.
Delobel B; Service de génétique médicale, GH de l'Institut Catholique de Lille, Lille, France.
Burglen L; Service de neuropédiatrie et génétique, APHP Armand-Trousseau, Paris, France.
Afenjar A; Service de neuropédiatrie et génétique, APHP Armand-Trousseau, Paris, France.
Faivre L; Centre de référence Anomalies du Développement et Syndromes Malformatifs et FHU TRANSLAD, CHU de Dijon, Dijon, France.; Équipe GAD, INSERM UMR 1231, Université de Bourgogne, Dijon, France.
Francannet C; Service de génétique médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.
Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France.; INSERM U1245, FHU G4 Génomique, Rouen, France.
Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Rouen, France.; INSERM U1245, FHU G4 Génomique, Rouen, France.
Mercier S; Service de génétique médicale, CHU de Nantes, Nantes, France.; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
Héron D; Service de génétique médicale, APHP Pitié-Salpêtrière, Paris, France.
Lehalle D; Service de génétique médicale, APHP Pitié-Salpêtrière, Paris, France.
Mignot C; Service de génétique médicale, APHP Pitié-Salpêtrière, Paris, France.
Marey I; Service de génétique médicale, CHU de Grenoble, Grenoble, France.
Charles P; Service de génétique médicale, APHP Pitié-Salpêtrière, Paris, France.
Moutton S; Maison de santé protestante de Bordeaux Bagatelle, Talence, France.
Bézieau S; Service de génétique médicale, CHU de Nantes, Nantes, France.; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Filadelfia, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Strasbourg, France.; CNRS UMR 7104-INSERM U1258 Illkirch-Graffenstaden, Illkirch-Graffenstaden, France.
Willems M; Reference Centre AD SOOR, AnDDI-RARE, Arnaud de Villeneuve Hospital and University of Montpellier, Montpellier, France.; INSERM U1298, INM, Montpellier, France.
Vincent M; Service de génétique médicale, CHU de Nantes, Nantes, France.; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 9-16. Date of Electronic Publication: 2023 Sep 22.
Typ publikacji:
Journal Article
MeSH Terms:
Microcephaly*/diagnosis
Microcephaly*/genetics
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Male ; Female ; Child ; Humans ; Growth Charts ; Syndrome ; Body Mass Index ; Body Height/genetics
Czasopismo naukowe
Tytuł:
Delineating the phenotype of PNPLA8-related mitochondriopathies.
Autorzy:
Abdel-Hamid MS; Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Abdel-Ghafar SF; Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
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Źródło:
Clinical genetics [Clin Genet] 2024 Jan; Vol. 105 (1), pp. 92-98. Date of Electronic Publication: 2023 Sep 06.
Typ publikacji:
Journal Article
MeSH Terms:
Microcephaly*/genetics
Cerebellar Ataxia*/genetics
Humans ; Adult ; Child ; Phenotype ; Mutation, Missense ; Basal Ganglia
Czasopismo naukowe
Tytuł:
Oral conditions of children with microcephaly associated with congenital Zika syndrome: a cross-sectional study.
Autorzy:
Silva LVO; Universidade Federal de Minas Gerias - UFMG, School of Dentistry, Department of Oral Surgery, Pathology, and Clinical Dentistry, Belo Horizonte, MG, Brazil.
Arruda JAA; Universidade Federal de Minas Gerias - UFMG, School of Dentistry, Department of Oral Surgery, Pathology, and Clinical Dentistry, Belo Horizonte, MG, Brazil.
Hashizume LN; Universidade Federal do Rio Grande do Sul - UFRGS, School of Dentistry, Department of Social and Preventive Dentistry, Porto Alegre, RS, Brazil.
Abreu MHNG; Universidade Federal de Minas Gerias - UFMG, School of Dentistry, Department of Social and Preventive Dentistry, Belo Horizonte, MG, Brazil.
Borges-Oliveira AC; Universidade Federal de Minas Gerias - UFMG, School of Dentistry, Department of Social and Preventive Dentistry, Belo Horizonte, MG, Brazil.
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Źródło:
Brazilian oral research [Braz Oral Res] 2024 Mar 11; Vol. 38, pp. e020. Date of Electronic Publication: 2024 Mar 11 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Microcephaly*
Dental Caries*
Zika Virus Infection*
Malocclusion*
Zika Virus*
Child ; Female ; Humans ; Child, Preschool ; Cross-Sectional Studies
Czasopismo naukowe
Tytuł:
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.
Autorzy:
Walimbe AS; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.
Machol K; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Kralik SF; Department of Radiology, Baylor College of Medicine, Houston, TX, 77030, USA.
Mizerik EA; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Gofin Y; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Genetics Institute, Meir Medical Center, Kfar Saba, Israel.
Bekheirnia MR; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Emrick LT; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Scaglia F; Texas Children's Hospital, Houston, TX, 77030, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .; BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong SAR, China. .
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Źródło:
BMC neurology [BMC Neurol] 2024 Mar 04; Vol. 24 (1), pp. 87. Date of Electronic Publication: 2024 Mar 04.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Microcephaly*/genetics
Mitochondrial Diseases*/genetics
Arginine-tRNA Ligase*/genetics
Humans ; Male ; Child ; Muscle Hypotonia ; Phenotype ; Seizures
Czasopismo naukowe
Tytuł:
Population-based surveillance for birth defects potentially related to Zika virus infection including 3-year mortality and developmental outcomes, and Early Intervention Program service use-New York City, 2016 birth cohort.
Autorzy:
McVeigh KH; Division of Family and Child Health, New York City Department of Health and Mental Hygiene, Queens, New York, USA.
Tseyang T; Division of Family and Child Health, New York City Department of Health and Mental Hygiene, Queens, New York, USA.
Vachon ME; Division of Family and Child Health, New York City Department of Health and Mental Hygiene, Queens, New York, USA.
Moraes A; Division of Family and Child Health, New York City Department of Health and Mental Hygiene, Queens, New York, USA.
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Źródło:
Birth defects research [Birth Defects Res] 2024 Mar; Vol. 116 (3), pp. e2320.
Typ publikacji:
Journal Article
MeSH Terms:
Zika Virus Infection*/epidemiology
Zika Virus*
Pregnancy Complications, Infectious*
Microcephaly*/epidemiology
Infant, Newborn ; Infant ; Pregnancy ; Female ; Child ; Humans ; Child, Preschool ; New York City ; Birth Cohort ; Early Medical Intervention
Czasopismo naukowe

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