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Showing results for far only mim
Search for Farronay MIM instead (1 results)
Pitt-Hopkins Syndrome.
Peippo M, Ignatius J. Peippo M, et al. Mol Syndromol. 2012 Apr;2(3-5):171-180. doi: 10.1159/000335287. Epub 2011 Dec 29. Mol Syndromol. 2012. PMID: 22670138 Free PMC article.
Pitt-Hopkins syndrome (PTHS, MIM #610954) is characterized by severe intellectual disability, typical facial features and tendency to epilepsy, panting-and-holding breathing anomaly, stereotypic movements, constipation, and high myopia. ...The cause of PTHS is de novo hapl …
Pitt-Hopkins syndrome (PTHS, MIM #610954) is characterized by severe intellectual disability, typical facial features and tendency to …
Genotype-phenotype correlations in FSHD.
Zernov N, Skoblov M. Zernov N, et al. BMC Med Genomics. 2019 Mar 13;12(Suppl 2):43. doi: 10.1186/s12920-019-0488-5. BMC Med Genomics. 2019. PMID: 30871534 Free PMC article. Review.
BACKGROUND: Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FSHD1 (MIM:158900) and F …
BACKGROUND: Facial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is …
Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.
Muzammal M, Ahmad S, Ali MZ, Khan MA. Muzammal M, et al. Ann Hum Genet. 2021 Sep;85(5):147-154. doi: 10.1111/ahg.12425. Epub 2021 Apr 21. Ann Hum Genet. 2021. PMID: 33881165 Review.
It is characterized by heterogeneous phenotypic features, that is, absence of hair on the scalp, eyelashes, and eyebrows and mild to severe intellectual disability. So far, approximately 14 families (i.e., Iranian, Pakistani, and Swiss) with APMR have been reported in the …
It is characterized by heterogeneous phenotypic features, that is, absence of hair on the scalp, eyelashes, and eyebrows and mild to severe …
Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Aubert-Mucca M, Janel C, Porquet-Bordes V, Patat O, Touraine R, Edouard T, Michot C, Tessier A, Cormier-Daire V, Attie-Bitach T, Baujat G. Aubert-Mucca M, et al. Clin Genet. 2023 Jul;104(1):114-120. doi: 10.1111/cge.14328. Epub 2023 Mar 23. Clin Genet. 2023. PMID: 36951206
The NADSYN1 gene [MIM*608285] encodes the NAD synthetase 1 enzyme involved in the final step of NAD biosynthesis, crucial for cell metabolism and organ embryogenesis. ...This condition was initially characterized as severe with perinatal lethality or developmental delay an …
The NADSYN1 gene [MIM*608285] encodes the NAD synthetase 1 enzyme involved in the final step of NAD biosynthesis, crucial for cell me …
Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD).
Fisher J, Upadhyaya M. Fisher J, et al. Neuromuscul Disord. 1997 Jan;7(1):55-62. doi: 10.1016/s0960-8966(96)00400-2. Neuromuscul Disord. 1997. PMID: 9132141 Review.
Facioscapulohumeral muscular dystrophy (FSHD; MIM 158900), is an autosomal dominant neuromuscular disorder. The disease is characterized by the weakness of the muscles of the face, upper-arm and shoulder girdle. ...In approximately 5-10% of FSHD families the disease locus …
Facioscapulohumeral muscular dystrophy (FSHD; MIM 158900), is an autosomal dominant neuromuscular disorder. The disease is characteri …
Molecular genetics of quantitative fibrinogen disorders.
Asselta R, Spena S, Duga S, Tenchini ML. Asselta R, et al. Cardiovasc Hematol Agents Med Chem. 2007 Apr;5(2):163-73. doi: 10.2174/187152507780363205. Cardiovasc Hematol Agents Med Chem. 2007. PMID: 17430139 Review.
Among congenital fibrinogen deficiencies, quantitative defects (also called type I deficiencies; i.e. congenital afibrino-genemia [CAF] and hypofibrinogenemia) are characterized by the concomitant absence or reduction of coagulant activity and immunoreactive protein, while qualit …
Among congenital fibrinogen deficiencies, quantitative defects (also called type I deficiencies; i.e. congenital afibrino-genemia [CAF] and …
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype.
Pascolini G, Agolini E, Novelli A, Majore S, Grammatico P. Pascolini G, et al. Clin Genet. 2020 Apr;97(4):672-674. doi: 10.1111/cge.13682. Epub 2020 Jan 29. Clin Genet. 2020. PMID: 31994175
We describe the second patient with the de novo p.Arg377Trp variant in ACTL6A (Actin-like 6A) (MIM#604958) and a phenotype reminiscent a disorder of the BRG1-associated factor (BAF) complex, including dysmorphic facies and acral malformations. So far, only three pat …
We describe the second patient with the de novo p.Arg377Trp variant in ACTL6A (Actin-like 6A) (MIM#604958) and a phenotype reminiscen …
Plasmonic 3D Self-Folding Architectures via Vacuum Microforming.
Yu Y, Lorenz P, Strobel C, Zajadacz J, Albert M, Zimmer K, Kirchner R. Yu Y, et al. Small. 2022 Feb;18(7):e2105843. doi: 10.1002/smll.202105843. Epub 2021 Dec 7. Small. 2022. PMID: 34874616
Here, a unique folding technique is developed, namely vacuum microforming, successfully demonstrating the self-folding of microcubes that can be completed within 30 ms, a few orders of magnitudes faster as compared to various established strategies reported so far. Simulta …
Here, a unique folding technique is developed, namely vacuum microforming, successfully demonstrating the self-folding of microcubes that ca …
Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.
Mattina T, Palumbo O, Stallone R, Pulvirenti RM, Di Dio L, Pavone P, Carella M, Pavone L. Mattina T, et al. Eur J Med Genet. 2012 Dec;55(12):747-52. doi: 10.1016/j.ejmg.2012.09.006. Epub 2012 Sep 29. Eur J Med Genet. 2012. PMID: 23032921 Review.
The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CREB binding protein gene (CREBBP, MIM 600140), whose haploinsufficiency is responsible for the Rubinstein-Taybi syndrome, and the adenylate cyclase 9 gene (ADCY9, MIM 603 …
The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CREB binding protein gene (CREBBP, MIM …
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.
Alter S, Hotz A, Jahn A, Di Donato N, Schröck E, Smitka M, von der Hagen M, Schallner J, Menschikowski M, Gillitzer C, Laass MW, Fischer J, Tzschach A. Alter S, et al. Am J Med Genet A. 2018 Dec;176(12):2862-2866. doi: 10.1002/ajmg.a.40634. Epub 2018 Dec 18. Am J Med Genet A. 2018. PMID: 30561130 Review.
ARKID syndrome is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085), a severe disorder with early lethality whose phenotypic characteristics also include ichthyosis, hearing loss, severe failure to thrive, platelet dysfunction and osteope …
ARKID syndrome is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085), a severe disorder with early …
52 results