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 Custom Filters

Results by year

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

Year Number of Results
1994 1
2001 1
2003 1
2009 1
2010 1
2020 1
2021 1
2022 1
2024 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

6 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Seckel syndrome 8"
Page 1
Acute myeloid leukaemia in a patient with Seckel syndrome.
Hayani A, Suarez CR, Molnar Z, LeBeau M, Godwin J. Hayani A, et al. J Med Genet. 1994 Feb;31(2):148-9. doi: 10.1136/jmg.31.2.148. J Med Genet. 1994. PMID: 8182723 Free PMC article.
We report a female patient with Seckel syndrome who developed acute myeloid leukaemia at the age of 26 years. Analysis of bone marrow chromosomes showed an abnormal clone with abnormalities involving multiple chromosomes, including monosomy 7, trisomy 8, tris …
We report a female patient with Seckel syndrome who developed acute myeloid leukaemia at the age of 26 years. Analysis of bone …
Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review.
Monteiro A, Cortez GM, Granja MF, Agnoletto GJ, Kranich J, Padilha MVR, Aldana P, Hanel R. Monteiro A, et al. J Neurointerv Surg. 2021 Feb;13(2):171-176. doi: 10.1136/neurintsurg-2020-016069. Epub 2020 Jun 10. J Neurointerv Surg. 2021. PMID: 32522788
The majority of patients were aged 18 years (70.8%), with a mean age of 16.2 years at presentation. Median aneurysm size was 3 (IQR 1.8-6) mm, and the most frequent locations were the internal carotid (37.3%) and middle cerebral arteries (23.8%). ...Twenty-tw …
The majority of patients were aged 18 years (70.8%), with a mean age of 16.2 years at presentation. Median aneurysm size was 3 (IQR 1 …
Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.
Nerakh G, Vineeth VS, Tallapaka K, Nair L, Dalal A, Aggarwal S. Nerakh G, et al. Am J Med Genet A. 2022 Jul;188(7):2139-2146. doi: 10.1002/ajmg.a.62725. Epub 2022 Mar 17. Am J Med Genet A. 2022. PMID: 35298084
We report a patient with microcephalic primordial dwarfism with predominant Meier-Gorlin syndrome phenotype with ichthyosis and disabling multiple joint deformities in addition to classic features of the syndrome. ...Whole exome sequencing revealed a pathogenic homo …
We report a patient with microcephalic primordial dwarfism with predominant Meier-Gorlin syndrome phenotype with ichthyosis and disab …
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. Willems M, et al. J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29. J Med Genet. 2010. PMID: 19643772 Free article.
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short stature, and pronounced microc …
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong …
IGF type 1 receptor ligand binding characteristics are altered in a subgroup of children with intrauterine growth retardation.
Ducos B, Cabrol S, Houang M, Perin L, Holzenberger M, Le Bouc Y. Ducos B, et al. J Clin Endocrinol Metab. 2001 Nov;86(11):5516-24. doi: 10.1210/jcem.86.11.7985. J Clin Endocrinol Metab. 2001. PMID: 11701730 Clinical Trial.
Group 1 included subjects with normal receptor binding function (Kd = 0.36 nM; Bmax = 8.2 sites/cell) and normal levels of circulating IGF-I. Group 2 comprised children with low receptor affinity (Kd = 0.56 nM) and increased receptor number (Bmax = 14.7 sites/cell). ...We …
Group 1 included subjects with normal receptor binding function (Kd = 0.36 nM; Bmax = 8.2 sites/cell) and normal levels of circulatin …
Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients.
Bobabilla-Morales L, Corona-Rivera A, Corona-Rivera JR, Buenrostro C, García-Cobián TA, Corona-Rivera E, Cantú-Garza JM, García-Cruz D. Bobabilla-Morales L, et al. Am J Med Genet A. 2003 Dec 1;123A(2):148-52. doi: 10.1002/ajmg.a.20341. Am J Med Genet A. 2003. PMID: 14598338
Seckel syndrome (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal growth retardation, microcephaly, typical facial appearance with beak-like protrusion, and severe mental retardation. ...Clinical and cytogenetic findings suppor …
Seckel syndrome (SS) is an autosomal recessive entity characterized by proportionate pre- and post-natal growth retardation, m …