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
1984 1
1989 1
1995 1
1997 1
1998 1
1999 1
2000 1
2001 1
2010 2
2011 2
2017 2
2018 2
2021 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Elliptocytosis 2"
Page 1
Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.
Shome DK, Das P, Akbar GA, Taha S, Radhi A, Al-Saad K, Helmy R. Shome DK, et al. Ann Hematol. 2023 Sep;102(9):2343-2351. doi: 10.1007/s00277-023-05337-9. Epub 2023 Jul 4. Ann Hematol. 2023. PMID: 37400730
Hereditary elliptocytosis (HE) and pyropoikilocytosis (HPP) are considered a group of hemolytic anemias (HE/HPP) due to inherited abnormalities of erythrocyte membrane proteins with a worldwide distribution. ...The present study aimed to identify significant molecul …
Hereditary elliptocytosis (HE) and pyropoikilocytosis (HPP) are considered a group of hemolytic anemias (HE/HPP) due to inheri …
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.
Basel-Vanagaite L, Pillar N, Isakov O, Smirin-Yosef P, Lagovsky I, Orenstein N, Salmon-Divon M, Tamary H, Zaft T, Bazak L, Meyerovitch J, Pelli T, Botchan S, Farberov L, Weissglas-Volkov D, Shomron N. Basel-Vanagaite L, et al. Gene. 2017 Mar 30;606:47-52. doi: 10.1016/j.gene.2017.01.001. Epub 2017 Jan 9. Gene. 2017. PMID: 28089922
In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. Recently, mutations in AMMECR1 were reported in two ma …
In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with …
Red cell membrane polypeptides under normal conditions and in genetic disorders.
Delaunay J. Delaunay J. Transfus Clin Biol. 1995;2(4):207-16. doi: 10.1016/s1246-7820(05)80086-2. Transfus Clin Biol. 1995. PMID: 8542017 Review.
It has been established that many congenital haemolytic anaemias result from mutations altering the above-mentioned genes. We will provide two examples. Hereditary elliptocytosis stems from an array of mutations located at, or near the head-to-head self-association …
It has been established that many congenital haemolytic anaemias result from mutations altering the above-mentioned genes. We will provide t …
Fetal anemia of unknown cause--a diagnostic challenge.
Amann C, Geipel A, Müller A, Heep A, Ritgen J, Stressig R, Kozlowski P, Gembruch U, Berg C. Amann C, et al. Ultraschall Med. 2011 Dec;32 Suppl 2:E134-40. doi: 10.1055/s-0031-1281756. Epub 2011 Dec 9. Ultraschall Med. 2011. PMID: 22161617
In the remaining 15 cases, the cause of fetal anemia was unknown at the time of first and second transfusion, and could only be ascertained in the further course of pregnancy, in the postnatal period or was ultimately left in doubt. In all cases markedly elevated peak syst …
In the remaining 15 cases, the cause of fetal anemia was unknown at the time of first and second transfusion, and could only be ascertained …
Three Novel Spectrin Variants in Jaundiced Neonates.
Christensen RD, Agarwal AM, Yaish HM, Reading NS, O'Brien EA, Prchal JT. Christensen RD, et al. Clin Pediatr (Phila). 2018 Jan;57(1):19-26. doi: 10.1177/0009922816687326. Epub 2017 Jan 15. Clin Pediatr (Phila). 2018. PMID: 28090778
In each case, we identified novel mutations in either SPTA1 or SPTB. Correlating erythrocyte morphology, clinical course, and computational analysis, we submit that each of the 3 variants is a probable pathogenic cause of the hereditary hemolytic conditions in these …
In each case, we identified novel mutations in either SPTA1 or SPTB. Correlating erythrocyte morphology, clinical course, and computa …
Accurate light microscopic diagnosis of South-East Asian ovalocytosis.
Nixon CP, Satyagraha AW, Baird GL, Harahap AR, Panggalo LV, Ekawati LL, Sutanto I, Syafruddin D, Kevin Baird J. Nixon CP, et al. Int J Lab Hematol. 2018 Dec;40(6):655-662. doi: 10.1111/ijlh.12900. Epub 2018 Jul 13. Int J Lab Hematol. 2018. PMID: 30006977 Free PMC article. Clinical Trial.
Generalized mixed modeling was used to estimate the sensitivity, specificity, positive predictive value, and negative predictive value of light microscopy vs "gold standard" PCR. RESULTS: Among red cell morphologic parameters evaluated, knizocytes, rather than ovalo …
Generalized mixed modeling was used to estimate the sensitivity, specificity, positive predictive value, and negative predictive …
Risk factors, complications, and outcomes of gallstones in children: a single-center review.
Bogue CO, Murphy AJ, Gerstle JT, Moineddin R, Daneman A. Bogue CO, et al. J Pediatr Gastroenterol Nutr. 2010 Mar;50(3):303-8. doi: 10.1097/MPG.0b013e3181b99c72. J Pediatr Gastroenterol Nutr. 2010. PMID: 20118803
CONCLUSIONS: The data suggest that clinically silent gallstones in children and infants are associated with low rates of complications and can be managed conservatively, unless complications occur. Patients with sickle cell disease, spherocytosis, and elliptocytosis had hi …
CONCLUSIONS: The data suggest that clinically silent gallstones in children and infants are associated with low rates of complications and c …
Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).
Vitelli F, Piccini M, Caroli F, Franco B, Malandrini A, Pober B, Jonsson J, Sorrentino V, Renieri A. Vitelli F, et al. Genomics. 1999 Feb 1;55(3):335-40. doi: 10.1006/geno.1998.5666. Genomics. 1999. PMID: 10049589
We recently described a novel contiguous gene deletion syndrome (AMME) in Xq22.3 that includes Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E). While the Alport syndrome is due to deletion of the COL4A5 gene, no other genes are k …
We recently described a novel contiguous gene deletion syndrome (AMME) in Xq22.3 that includes Alport syndrome (A), mental retardation (M), …
A Novel alpha-Spectrin Pathogenic Variant in Trans to alpha-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome.
Suzuki T, Togawa T, Kanno H, Ogura H, Yamamoto T, Sugiura T, Kouwaki M, Saitoh S. Suzuki T, et al. J Pediatr Hematol Oncol. 2021 Mar 1;43(2):e250-e254. doi: 10.1097/MPH.0000000000001796. J Pediatr Hematol Oncol. 2021. PMID: 32287101
Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. ...This is the first report of molecular confirmation of coexisting hereditary pyropoikilocytosis and Gilbert syndrome and …
Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, …
Isochromosome 14q in refractory anemia.
Boavida MG, Ambrósio P, Dhermy D, Silva C, Correia ME Jr. Boavida MG, et al. Cancer Genet Cytogenet. 1997 Sep;97(2):155-6. doi: 10.1016/s0165-4608(96)00334-2. Cancer Genet Cytogenet. 1997. PMID: 9283599
We present a case of refractory anemia (MDS-RA) with the uncommon features of marked elliptocytosis and schistocytosis in the peripheral blood and isochromosome 14q. The analysis of the clinical outcome of this case and of others of myelodysplastic (MDS)/myeloproliferative …
We present a case of refractory anemia (MDS-RA) with the uncommon features of marked elliptocytosis and schistocytosis in the periphe …
16 results