Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2008 1
2009 1
2013 1
2015 2
2016 2
2017 2
2018 1
2019 2
2020 2
2021 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
Page 1
Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome.
Hagiwara H, Matsumoto H, Uematsu K, Zaha K, Sekinaka Y, Miyake N, Matsumoto N, Nonoyama S. Hagiwara H, et al. Brain Dev. 2021 Feb;43(2):337-342. doi: 10.1016/j.braindev.2020.09.007. Epub 2020 Oct 12. Brain Dev. 2021. PMID: 33059947
BACKGROUND: Microcephalic osteodysplastic primordial dwarfism type I (MOPD I, also known as Taybi-Linder syndrome) is a rare genetic disorder associated with severe intrauterine growth retardation, short stature, microcephaly, brain anomalies, s …
BACKGROUND: Microcephalic osteodysplastic primordial dwarfism type I (MOPD I, also known as Taybi-Linder syndrom …
Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II.
Fukuzawa R, Sato S, Sullivan MJ, Nishimura G, Hasegawa T, Matsuo N. Fukuzawa R, et al. Am J Med Genet. 2002 Nov 15;113(1):93-6. doi: 10.1002/ajmg.10716. Am J Med Genet. 2002. PMID: 12400072
Microcephalic osteodysplastic primordial "dwarfism" (MOPD) is a group of disorders similar to Seckel syndrome. Three subtypes (types I-III) have been reported. We report here the first autopsy case of MOPD type II. The patient was a Japanese gir …
Microcephalic osteodysplastic primordial "dwarfism" (MOPD) is a group of disorders similar to Seckel syndrome. T …
Consequences of Centrosome Dysfunction During Brain Development.
Nano M, Basto R. Nano M, et al. Adv Exp Med Biol. 2017;1002:19-45. doi: 10.1007/978-3-319-57127-0_2. Adv Exp Med Biol. 2017. PMID: 28600781 Review.
As one of the most structurally complex organs in our body, the brain is particularly susceptible to centrosome dysfunction. Autosomal recessive primary microcephaly (MCPH), primordial dwarfism disease Seckel syndrome (SCKS) and microcephalic osteod …
As one of the most structurally complex organs in our body, the brain is particularly susceptible to centrosome dysfunction. Autosomal reces …
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Khatri D, Putoux A, Cologne A, Kaltenbach S, Besson A, Bertiaux E, Guguin J, Fendler A, Dupont MA, Benoit-Pilven C, Qebibo L, Ahmed-Elie S, Audebert-Bellanger S, Blanc P, Rambaud T, Castelle M, Cornen G, Grotto S, Guët A, Guibaud L, Michot C, Odent S, Ruaud L, Sacaze E, Hamel V, Bordonné R, Leutenegger AL, Edery P, Burglen L, Attié-Bitach T, Mazoyer S, Delous M. Khatri D, et al. Proc Natl Acad Sci U S A. 2023 Feb 28;120(9):e2102569120. doi: 10.1073/pnas.2102569120. Epub 2023 Feb 21. Proc Natl Acad Sci U S A. 2023. PMID: 36802443 Free PMC article.
Its noncoding gene, RNU4ATAC, has been found mutated in Taybi-Linder (TALS/microcephalic osteodysplastic primordial dwarfism type 1), Roifman (RFMN), and Lowry-Wood (LWS) syndromes. These rare developmental disorders, whose physiopatholog …
Its noncoding gene, RNU4ATAC, has been found mutated in Taybi-Linder (TALS/microcephalic osteodysplastic primordial …
The smallest of the small.
Hall JG. Hall JG. Gene. 2013 Oct 1;528(1):55-7. doi: 10.1016/j.gene.2013.03.081. Epub 2013 Apr 10. Gene. 2013. PMID: 23583796
Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) II has recently been defined as a PCNT gene defect. ...
Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) II has recently been defined as a PCNT gene defect. ...
Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient.
Terlemez A, Altunsoy M, Celebi H. Terlemez A, et al. J Istanb Univ Fac Dent. 2015 Jan 31;49(1):41-46. doi: 10.17096/jiufd.73283. eCollection 2015. J Istanb Univ Fac Dent. 2015. PMID: 28955524 Free PMC article.
Majewski osteodysplastic primordial dwarfism type II (MOPD II) is an unusual autosomal recessive inherited form of primordial dwarfism, which is characterized by a small head diameter at birth, but which also progresses to severe microcephaly, p …
Majewski osteodysplastic primordial dwarfism type II (MOPD II) is an unusual autosomal recessive inherited form of prim …
Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1.
Tibelius A, Marhold J, Zentgraf H, Heilig CE, Neitzel H, Ducommun B, Rauch A, Ho AD, Bartek J, Krämer A. Tibelius A, et al. J Cell Biol. 2009 Jun 29;185(7):1149-57. doi: 10.1083/jcb.200810159. Epub 2009 Jun 22. J Cell Biol. 2009. PMID: 19546241 Free PMC article.
Primary microcephaly, Seckel syndrome, and microcephalic osteodysplastic primordial dwarfism type II (MOPD II) are disorders exhibiting marked microcephaly, with small brain sizes reflecting reduced neuron production during fetal l …
Primary microcephaly, Seckel syndrome, and microcephalic osteodysplastic primordial dwarfism type II ( …
Microcephalic osteodyplastic primordial dwarfism type II: case report with unique oral findings and a new mutation in the pericentrin gene.
Ghosh S, Garg M, Gupta S, Choudhary M, Chandra M. Ghosh S, et al. Oral Surg Oral Med Oral Pathol Oral Radiol. 2020 Feb;129(2):e204-e211. doi: 10.1016/j.oooo.2019.08.019. Epub 2019 Sep 3. Oral Surg Oral Med Oral Pathol Oral Radiol. 2020. PMID: 31606423
OBJECTIVE: Microcephalic osteodysplastic dwarfism (MOPD) type II (OMIM 210720) is a rare autosomal recessive form of primordial dwarfism, characterized by intrauterine and postnatal growth restriction, microcephaly, distinctive facial fea …
OBJECTIVE: Microcephalic osteodysplastic dwarfism (MOPD) type II (OMIM 210720) is a rare autosomal recessive for …
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
Farach LS, Little ME, Duker AL, Logan CV, Jackson A, Hecht JT, Bober M. Farach LS, et al. Am J Med Genet A. 2018 Feb;176(2):465-469. doi: 10.1002/ajmg.a.38581. Epub 2017 Dec 19. Am J Med Genet A. 2018. PMID: 29265708 Free PMC article.
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteod …
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism …
14 results