Authors : Yang M; Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics ; Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/diagnostic imaging ; Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/genetics

Source: Journal of clinical laboratory analysis [J Clin Lab Anal] 2022 May; Vol. 36 (5), pp. e24440. Date of Electronic Publication: 2022 Apr 18.Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium:

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Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey

Authors : Rolf W. Stottmann; Farrah Jackson; Howard M. Saal

Subjects: Adult; Male; Pediatrics

Source: Am J Med Genet A

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EFTUD2 , The Gene Responsible For Mandibulofacial Dysostosis With Microcephaly (MFDM), Is Required For Implantation And Craniofacial Development In Mouse

Authors : Marie-Claude Beauchamp; Loydie Jerome Majewska; Jacek Majewski

Subjects: Pathology; medicine.medical_specialty; Microcephaly

Source: The FASEB Journal. 33

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Academic Journal

Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome.

Authors : Zhao J; Department of Obstetrics, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, China.; Yang L

Subjects: Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/diagnosis ; Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/genetics ; Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/Mandibulofacial Dysostosis*/pathologyAcrofacial dysostosis, Nager type

Source: Journal of clinical laboratory analysis [J Clin Lab Anal] 2020 Sep; Vol. 34 (9), pp. e23426. Date of Electronic Publication: 2020 Jun 14.Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium:

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'Mandibulofacial dysostosis with microcephaly' caused byEFTUD2mutations: Expanding the phenotype

Authors : Emily H. Turner; Michael L. Cunningham; Sarah Park

Subjects: Male; Microcephaly; DNA Mutational Analysis

Source: American Journal of Medical Genetics Part A. 161:108-113

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Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts theHOXD gene cluster

Authors : Steven B. Bleyl; Arthur R. Brothman; David A. Stevenson

Subjects: Hearing loss; Chromosomal translocation; Biology

Source: American Journal of Medical Genetics Part A. :1053-1059

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Academic Journal

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.

Authors : Zhang C; Graduate School of Peking, Union Medical College, Beijing, China.; National Research Institute for Family Planning, National Human Genetic Resources Center, Beijing, China.

Subjects: Mandibulofacial Dysostosis/Mandibulofacial Dysostosis/Mandibulofacial Dysostosis/*genetics ; Mutation/Mutation/Mutation/*genetics ; Nuclear Proteins/Nuclear Proteins/Nuclear Proteins/*genetics

Source: Journal of clinical laboratory analysis [J Clin Lab Anal] 2021 Jan; Vol. 35 (1), pp. e23567. Date of Electronic Publication: 2020 Sep 09.Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium:

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Spliceosomopathies: Diseases and mechanisms

Authors : Jean Pierre Saint-Jeannet; Casey Griffin

Subjects: 0301 basic medicine; Spliceosome; Biology

Source: Dev Dyn

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Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes

Authors : Bruce M. Carlson; Nuntigar Sonsuwan; Chumpol Ngamphiw

Subjects: Male; Cephalometry; DNA Mutational Analysis

Source: Clinical Otolaryngology. 45:695-702

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نتائج البحث

فلترة النتائج

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2

A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey

EFTUD2 , The Gene Responsible For Mandibulofacial Dysostosis With Microcephaly (MFDM), Is Required For Implantation And Craniofacial Development In Mouse

Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome.

'Mandibulofacial dysostosis with microcephaly' caused byEFTUD2mutations: Expanding the phenotype

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts theHOXD gene cluster

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.

Spliceosomopathies: Diseases and mechanisms

Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes

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