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searching for Alpha-thalassemia 18 found (59 total)

ATRX (1,758 words) [view diff] exact match in snippet view article find links to article

X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATR-X) syndrome. These mutations have been shown to cause diverse

Smith–Fineman–Myers syndrome (1,049 words) [view diff] exact match in snippet view article find links to article

is associated with other forms of X-linked mental retardation like Alpha-thalassemia/mental retardation syndrome, Carpenter syndrome, Juberg-Marsidi syndrome

Isosthenuria (265 words) [view diff] exact match in snippet view article find links to article

Chicago, 2009. Gupta AK, Kirchner KA, Nicholson R, et al. Effects of alpha-thalassemia and sickle polymerization tendency on the urine-concentrating defect

List of diseases (X) (279 words) [view diff] no match in snippet view article

X-linked adrenoleukodystrophy X-linked agammaglobulinemia X-linked alpha thalassemia mental retardation syndrome (ATR-X) X-linked dominance X-linked ichthyosis

Biorepository (957 words) [view diff] case mismatch in snippet view article find links to article

such as Huntington Disease, Cystic Fibrosis, Fragile X Syndrome, Alpha-Thalassemia, and Muenke Syndrome. Biobank Biological database Gene bank Genetic

Chromosome 16 (1,672 words) [view diff] exact match in snippet view article find links to article

apparatus protein 1 HBAP1: Hemoglobin, alpha pseudogene 1 HBHR, ATR1: Alpha-thalassemia/mental retardation syndrome, type 1 HIRIP3: encoding protein HIRA-interacting

Helicase (6,919 words) [view diff] exact match in snippet view article find links to article

genital abnormalities, seizures, limited language use and ability, and alpha-thalassemia. The phenotype seen in ATR-X suggests that the mutation of ATRX gene

PBDC1 (2,603 words) [view diff] no match in snippet view article find links to article

mutated causes an X-linked mental retardation syndrome along with alpha thalassemia syndrome; both are known to cause changes in the DNA methylation patterns

X-linked intellectual disability (1,927 words) [view diff] no match in snippet view article find links to article

and microcephaly with pontine and cerebellar hypoplasia X-linked alpha thalassemia mental retardation syndrome Following is a list of genes located on

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

Alpha-methylacetoacetic aciduria; 203750; ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX Alpha-thalassemia mental retardation syndrome; 301040;

Wei-Shau Hu (559 words) [view diff] exact match in snippet view article find links to article

She studied the mechanisms of DNA recombination that lead to human alpha-thalassemia in James Shen's laboratory. Under Howard Martin Temin's guidance,

Inclusion bodies (2,550 words) [view diff] no match in snippet view article find links to article

by supravital staining with basic dyes. Hemoglobin H inclusions – alpha thalassemia, greenish-blue inclusion bodies appear in many red blood cells after

Microtia (3,070 words) [view diff] no match in snippet view article find links to article

also feature of many conditions and syndromes: 46,XY sex reversal 4 Alpha thalassemia-X-linked intellectual disability syndrome Autosomal recessive faciodigitogenital

Tharu people (5,217 words) [view diff] no match in snippet view article find links to article

(1991). "Protection against Malaria Morbidity – Near Fixation of the Alpha Thalassemia Gene in a Nepalese Population". American Journal of Human Genetics

Tran To Nga (1,333 words) [view diff] exact match in snippet view article find links to article

defects. She herself suffers from breast cancer, type 2 diabetes, alpha-thalassemia, and recurrent tuberculosis, pathologies caused by dioxin. In her

High-resolution melting analysis (2,573 words) [view diff] exact match in snippet view article find links to article

Suanta S, Saetung R, Sanguansermsri T (June 2008). "Detection of alpha-thalassemia-1 Southeast Asian type using real-time gap-PCR with SYBR Green1 and

List of syndromes (4,155 words) [view diff] exact match in snippet view article find links to article

syndrome Alopecia contractures dwarfism mental retardation syndrome Alpha-thalassemia mental retardation syndrome Alport syndrome Alström syndrome Alvarez'

List of eponymous medical signs (113 words) [view diff] exact match in snippet view article find links to article

death in some stillborns Loss of all four alpha-globin genes (total alpha-thalassemia) leads to severely anemic stillborn babies with small amounts of an