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Page 1
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS. Shaheen R, et al. Genet Med. 2019 Mar;21(3):545-552. doi: 10.1038/s41436-018-0140-3. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214071 Free PMC article.
Our data show little overlap with the genetic causes of postnatal microcephaly. We also show that a broad definition of primary microcephaly -as an autosomal recessive form of nonsyndromic CM with severe postnatal deceleration of occipitofrontal circumference-is hig …
Our data show little overlap with the genetic causes of postnatal microcephaly. We also show that a broad definition of primary mi …
Investigating microcephaly.
Woods CG, Parker A. Woods CG, et al. Arch Dis Child. 2013 Sep;98(9):707-13. doi: 10.1136/archdischild-2012-302882. Epub 2013 Jun 28. Arch Dis Child. 2013. PMID: 23814088 Review.
Developmental processes reducing in utero neuron generation present at birth with 'Primary microcephaly'. 3. 'Secondary microcephaly' develops after birth and predominantly reflects dendritic or white matter diseases. 4. ...
Developmental processes reducing in utero neuron generation present at birth with 'Primary microcephaly'. 3. 'Secondary microc …
Diagnostic Approach to Primary Microcephaly.
von der Hagen M. von der Hagen M. Neuropediatrics. 2017 Jun;48(3):133-134. doi: 10.1055/s-0037-1602820. Epub 2017 May 3. Neuropediatrics. 2017. PMID: 28470649 No abstract available.
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S, Désir J, Perazzolo C, Badoer C, Jacquemin V, Soblet J, Maystadt I, Tunca Y, Blaumeiser B, Ceulemans B, Courtens W, Debray FG, Destree A, Devriendt K, Jansen A, Keymolen K, Lederer D, Loeys B, Meuwissen M, Moortgat S, Mortier G, Nassogne MC, Sekhara T, Van Coster R, Van Den Ende J, Van der Aa N, Van Esch H, Vanakker O, Verhelst H, Vilain C, Weckhuysen S, Passemard S, Verloes A, Aeby A, Deconinck N, Van Bogaert P, Pirson I, Abramowicz M. Duerinckx S, et al. Mol Genet Genomic Med. 2021 Sep;9(9):e1768. doi: 10.1002/mgg3.1768. Epub 2021 Aug 17. Mol Genet Genomic Med. 2021. PMID: 34402213 Free PMC article.
BACKGROUND: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. ...
BACKGROUND: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal …
Autosomal Recessive Primary Microcephaly (MCPH): An Update.
Zaqout S, Morris-Rosendahl D, Kaindl AM. Zaqout S, et al. Neuropediatrics. 2017 Jun;48(3):135-142. doi: 10.1055/s-0037-1601448. Epub 2017 Apr 11. Neuropediatrics. 2017. PMID: 28399591 Review.
Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopmental disorder characterized by a significantly reduced head circumference present already at birth and intellectual disability. ...
Autosomal recessive primary microcephaly (MCPH; MicroCephaly Primary Hereditary) is a genetically heterogeneous neurodevelopme …
Neurological outcome in WDR62 primary microcephaly.
Ruaud L, Drunat S, Elmaleh-Bergès M, Ernault A, Guilmin Crepon S; MCPH Consortium; El Ghouzzi V, Auvin S, Verloes A, Passemard S. Ruaud L, et al. Dev Med Child Neurol. 2022 Apr;64(4):509-517. doi: 10.1111/dmcn.15060. Epub 2021 Sep 25. Dev Med Child Neurol. 2022. PMID: 35726608 Free article.
AIM: To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 (WDR62)-related primary microcephaly. METHOD: In this observational study, we describe the developmental, neurological, cognitive, and brain imagi …
AIM: To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 (WDR62)-related p …
Molecular causes of primary microcephaly and related diseases: a report from the UNIA Workshop.
Stracker TH, Morrison CG, Gergely F. Stracker TH, et al. Chromosoma. 2020 Jun;129(2):115-120. doi: 10.1007/s00412-020-00737-6. Epub 2020 May 18. Chromosoma. 2020. PMID: 32424716 Review.
The International University of Andalucia (UNIA) Current Trends in Biomedicine Workshop on Molecular Causes of Primary Microcephaly and Related Diseases took place in Baeza, Spain, November 18-20, 2019. This meeting brought together scientists from Europe, the USA a …
The International University of Andalucia (UNIA) Current Trends in Biomedicine Workshop on Molecular Causes of Primary Microcephal …
Molecular genetics of human primary microcephaly: an overview.
Faheem M, Naseer MI, Rasool M, Chaudhary AG, Kumosani TA, Ilyas AM, Pushparaj P, Ahmed F, Algahtani HA, Al-Qahtani MH, Saleh Jamal H. Faheem M, et al. BMC Med Genomics. 2015;8 Suppl 1(Suppl 1):S4. doi: 10.1186/1755-8794-8-S1-S4. Epub 2015 Jan 15. BMC Med Genomics. 2015. PMID: 25951892 Free PMC article. Review.
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive mental retardation. ...
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present …
Microcephaly in Australian infants: A retrospective audit.
Nunez C, Morris A, Hansen M, Elliott EJ. Nunez C, et al. J Paediatr Child Health. 2022 Mar;58(3):448-458. doi: 10.1111/jpc.15739. Epub 2021 Sep 23. J Paediatr Child Health. 2022. PMID: 34553803
Of the children, 886 were ineligible and 197 were confirmed cases of microcephaly. Of cases, 73 (37%) had primary microcephaly (at birth) and 72 (37%) had severe microcephaly (OFC > -3 SD). ...
Of the children, 886 were ineligible and 197 were confirmed cases of microcephaly. Of cases, 73 (37%) had primary microcephaly …
Prenatal imaging findings in fetal Zika virus infection.
Araujo Júnior E, Carvalho FH, Tonni G, Werner H. Araujo Júnior E, et al. Curr Opin Obstet Gynecol. 2017 Apr;29(2):95-105. doi: 10.1097/GCO.0000000000000345. Curr Opin Obstet Gynecol. 2017. PMID: 28134669 Review.
Prenatal or postnatal genetic workup should be carried out to exclude cases of primary microcephaly. Follow-up should rely upon MRI and computed tomography scan as well as neuropediatrician to better define developmental outcome in survivors....
Prenatal or postnatal genetic workup should be carried out to exclude cases of primary microcephaly. Follow-up should rely upo …
89 results