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searching for X-linked mental retardation 85 found (97 total)

alternate case: x-linked mental retardation

PHF8 (966 words) [view diff] exact match in snippet view article find links to article

Kremer H, Heineman-de Boer JA, Ropers HH, Mariman EC (Jul 1999). "X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3". American
Alpha-thalassemia mental retardation syndrome (1,005 words) [view diff] exact match in snippet view article find links to article
mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome, is an X-linked recessive
Smith–Fineman–Myers syndrome (1,078 words) [view diff] exact match in snippet view article find links to article
ATRX is a gene disease that is associated with other forms of X-linked mental retardation like Alpha-thalassemia/mental retardation syndrome, Carpenter
Lujan–Fryns syndrome (4,169 words) [view diff] exact match in snippet view article find links to article
; Koulischer, L.; Battin, J. (1993). "Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review". Genetic
Aristaless related homeobox (978 words) [view diff] exact match in snippet view article find links to article
B, Stevenson R, Lubs H (1992). "Nomenclature guidelines for X-linked mental retardation". Am. J. Med. Genet. 43 (1–2): 383–91. doi:10.1002/ajmg.1320430159
Warkany syndrome 1 (222 words) [view diff] exact match in snippet view article find links to article
X-linked mental retardation has been removed from the OMIM database. Furthermore, this condition is no longer mentioned in a more recent review of X-linked
Fragile X syndrome (6,137 words) [view diff] no match in snippet view article find links to article
Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males with FXS is under 55
Snyder–Robinson syndrome (771 words) [view diff] exact match in snippet view article find links to article
understood. The syndrome has also been referred to as Snyder–Robinson X-linked mental retardation syndrome (MRXSSR) and spermine synthase deficiency. SRS exclusively
IL1RAPL1 (815 words) [view diff] exact match in snippet view article find links to article
receptor family highly expressed in hippocampus and involved in X-linked mental retardation". Nat Genet. 23 (1): 25–31. doi:10.1038/12623. PMID 10471494
KDM5C (852 words) [view diff] exact match in snippet view article find links to article
in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation". American Journal of Human Genetics. 76 (2): 227–36. doi:10
ATRX (1,709 words) [view diff] exact match in snippet view article find links to article
Inherited mutations of the ATRX gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATR-X)
FTSJ1 (663 words) [view diff] exact match in snippet view article find links to article
novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation". Am J Hum Genet. 75 (2): 305–9. doi:10.1086/422507. PMC 1216064
SOX3 (1,503 words) [view diff] exact match in snippet view article find links to article
have been associated with X-linked hypopituitarism (XH) and X-linked mental retardation. Patients with XH are male, have short stature, exhibit a mild
AFF2 (1,184 words) [view diff] exact match in snippet view article find links to article
(FRAXE). FRAXE is one of the most common forms of non-syndromic X-linked mental retardation. The gene is also known as FMR2 (Fragile Mental Retardation 2)
OPHN1 (1,164 words) [view diff] exact match in snippet view article find links to article
1998). "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation". Nature. 392 (6679): 923–6. Bibcode:1998Natur.392..923B. doi:10
ARHGEF6 (1,626 words) [view diff] exact match in snippet view article find links to article
nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation". Nature Genetics. 26 (2): 247–250. doi:10.1038/80002. PMID 11017088
PQBP1 (1,543 words) [view diff] exact match in snippet view article find links to article
binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly". American Journal of Human
AP1S2 (1,028 words) [view diff] exact match in snippet view article find links to article
Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation". American Journal of Human Genetics. 79 (6): 1119–24. doi:10
Wilson–Turner syndrome (2,222 words) [view diff] exact match in snippet view article find links to article
is seen in less than one in one million people. The study of X-linked mental retardation began in 1943 when Martin and Bell reported a family exhibiting
ZMYM3 (538 words) [view diff] exact match in snippet view article find links to article
"Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1". Human Molecular Genetics. 5 (7): 887–97. doi:10.1093/hmg/5
PHD finger (894 words) [view diff] exact match in snippet view article find links to article
la Torre-Ubieta L, Huarte M, Qi HH, et al. (March 2007). "The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases"
PAK3 (1,004 words) [view diff] exact match in snippet view article find links to article
mutation in PAK3 gene has been associated with nonsyndromic X-linked mental retardation. GRCh38: Ensembl release 89: ENSG00000077264 - Ensembl, May 2017
Sodium- and chloride-dependent creatine transporter 1 (814 words) [view diff] exact match in snippet view article find links to article
PMID 11326334. Hahn KA, Salomons GS, Tackels-Horne D, et al. (2002). "X-linked mental retardation with seizures and carrier manifestations is caused by a mutation
HMG20B (916 words) [view diff] exact match in snippet view article find links to article
WS, Speicher DW, Shiekhattar R (February 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
ACSL4 (2,026 words) [view diff] exact match in snippet view article find links to article
Plauchu H, Edery P (Sep 2003). "Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24". Am J Med Genet A. 122A (1): 37–41
CHD4 (1,316 words) [view diff] exact match in snippet view article find links to article
Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
GSE1 (376 words) [view diff] exact match in snippet view article find links to article
WS, Speicher DW, Shiekhattar R (February 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
GDI1 (1,223 words) [view diff] exact match in snippet view article find links to article
Oostra BA, Ropers HH, Mariman EC (1996). "A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28". Am. J. Med
Demethylase (3,812 words) [view diff] exact match in snippet view article find links to article
(found on the X-chromosome) have also been found in patients with X-linked mental retardation. Depletion of KDM5C homologs in D. rerio have shown brain-patterning
Jean-Louis Mandel (1,973 words) [view diff] exact match in snippet view article find links to article
13, 2997–3006 (2004). Mandel, J.-L. & Chelly, J. Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the
DHHC domain (2,147 words) [view diff] exact match in snippet view article find links to article
mutations within the DHHC domain of ZDHHC9 were identified in X-linked mental retardation associated with a Marfanoid Habitus. A potential link of ZDHHC11
List of genetic disorders (769 words) [view diff] case mismatch in snippet view article find links to article
org. Retrieved 2018-03-01. "OMIM Entry - # 300263 - SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD". omim.org. Retrieved 2019-04-16. "OMIM Entry
CUL4B (2,934 words) [view diff] exact match in snippet view article find links to article
engineered Cul4b mutant mouse as a potential model for human X-linked mental retardation". Human Molecular Genetics. 21 (19): 4270–85. doi:10.1093/hmg/dds261
ZDHHC9 (471 words) [view diff] case mismatch in snippet view article find links to article
Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus". Am. J. Hum. Genet. 80 (5):
Creatine transporter defect (1,689 words) [view diff] case mismatch in snippet view article find links to article
Lubs, Herbert A.; Jakobs, Cornelis; Olson, Rick L. (2002). "X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation
Bromodomain and WD repeat-containing protein 3 (347 words) [view diff] case mismatch in snippet view article find links to article
Smith R, et al. (2007). "Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly". Am. J. Hum. Genet. 81 (2): 367–74
HSD17B10 (1,903 words) [view diff] exact match in snippet view article find links to article
dehydrogenase X (HSD10) deficiency, formerly MHBD deficiency, and X-linked mental retardation, choreoathetosis, and abnormal behavior (MRXS10), respectively
Renin receptor (800 words) [view diff] exact match in snippet view article find links to article
"A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor". Hum
PLP2 (547 words) [view diff] exact match in snippet view article find links to article
functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation". Genome Res. 17 (5): 641–648. doi:10.1101/gr.5336307. PMC 1855181
PHF21A (553 words) [view diff] exact match in snippet view article find links to article
Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
Zinc finger protein 674 (139 words) [view diff] exact match in snippet view article find links to article
area of chromosome X that has been implicated in nonsyndromic X-linked mental retardation. Alternative splicing results in multiple transcript variants
ZNF41 (536 words) [view diff] exact match in snippet view article find links to article
with cognitive deficits: identification of a new candidate for X-linked mental retardation". Am. J. Hum. Genet. 73 (6): 1341–54. doi:10.1086/380309. PMC 1180399
Douglas Higgs (916 words) [view diff] exact match in snippet view article find links to article
"Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)". Cell. 80 (6): 837–845.
UBE2A (1,041 words) [view diff] exact match in snippet view article find links to article
encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome". Am. J. Hum. Genet. 79 (3): 549–55. doi:10.1086/507047
ARHGAP26 (983 words) [view diff] exact match in snippet view article find links to article
(1998). "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation". Nature. 392 (6679): 923–6. doi:10.1038/31940. PMID 9582072
RPS6KA3 (1,366 words) [view diff] exact match in snippet view article find links to article
Mulley JC (July 1994). "Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22". American Journal of Medical Genetics.
ZNF217 (962 words) [view diff] exact match in snippet view article find links to article
Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
RCOR1 (1,128 words) [view diff] exact match in snippet view article find links to article
Y, Lane WS, Speicher DW, Shiekhattar R (2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
PHOX2A (1,022 words) [view diff] exact match in snippet view article find links to article
(2002). "Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy". Nat. Genet. 30 (4): 441–5. doi:10.1038/ng862.
X-linked recessive inheritance (1,768 words) [view diff] exact match in snippet view article find links to article
syndrome; facial deformities, cleft palate, hearing loss Siderius X-linked mental retardation syndrome; cleft lip and palate with mental retardation and facial
Helicase (6,265 words) [view diff] exact match in snippet view article find links to article
10.010. PMID 15037234. Ropers HH, Hamel BC (January 2005). "X-linked mental retardation". Nat. Rev. Genet. 6 (1): 46–57. doi:10.1038/nrg1501. PMID 15630421
SMS (gene) (894 words) [view diff] exact match in snippet view article
S2CID 32198336. Arena JF, Schwartz C, Ouzts L, et al. (1996). "X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage
Christianson syndrome (350 words) [view diff] exact match in snippet view article find links to article
Stevenson RE, Undlien DE, Strømme P (2008) SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman
NLGN4X (685 words) [view diff] exact match in snippet view article find links to article
Gomot M, Blanc R, David A, Moizard MP, et al. (March 2004). "X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene,
KDM5D (1,080 words) [view diff] exact match in snippet view article find links to article
Whetstine JR, Bonni A, Roberts TM, Shi Y (March 2007). "The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases"
JARID1B (1,066 words) [view diff] exact match in snippet view article find links to article
(April 2006). "Novel JARID1C/SMCX mutations in patients with X-linked mental retardation". Human Mutation. 27 (4): 389. doi:10.1002/humu.9420. PMID 16541399
ZMYM2 (960 words) [view diff] exact match in snippet view article find links to article
WS, Speicher DW, Shiekhattar R (February 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
PBDC1 (2,580 words) [view diff] exact match in snippet view article find links to article
where CXorf26 is located, Xq13.3, has known associations to X-linked mental retardation. The third gene located upstream of CXorf26 is ATRX, which encodes
CHD3 (1,393 words) [view diff] exact match in snippet view article find links to article
Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
GRIA3 (2,070 words) [view diff] exact match in snippet view article find links to article
gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation". Genomics. 62 (3): 356–68. doi:10.1006/geno.1999.6032. PMID 10644433
ACSL1 (1,306 words) [view diff] exact match in snippet view article find links to article
encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation". Nature Genetics. 30 (4): 436–40. doi:10.1038/ng857. PMID 11889465
KDM5A (1,597 words) [view diff] exact match in snippet view article find links to article
LR (Apr 2006). "Novel JARID1C/SMCX mutations in patients with X-linked mental retardation". Human Mutation. 27 (4): 389. doi:10.1002/humu.9420. PMID 16541399
GTF2I (1,671 words) [view diff] exact match in snippet view article find links to article
Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
BCL11A (1,667 words) [view diff] exact match in snippet view article find links to article
PMID 27707736. Kuo TY, Hong CJ, Chien HL, Hsueh YP (August 2010). "X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching
Weatherall Institute of Molecular Medicine (1,124 words) [view diff] exact match in snippet view article find links to article
"Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)". Cell. 80 (6): 837–845.
Rho family of GTPases (3,182 words) [view diff] exact match in snippet view article find links to article
signaling. After the cloning of various genes implicated in X-linked mental retardation, three genes that have effects on Rho signaling were identified
MTA2 (2,057 words) [view diff] exact match in snippet view article find links to article
Lane WS, Speicher DW, Shiekhattar R (Feb 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
RBBP4 (2,213 words) [view diff] exact match in snippet view article find links to article
Y, Lane WS, Speicher DW, Shiekhattar R (2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
List of diseases (P) (1,912 words) [view diff] no match in snippet view article
disorder Placenta neoplasm Placental abruption Plagiocephaly X linked mental retardation Plague Plague, bubonic Plague, meningeal Plague, pharyngeal Plague
ZC4H2 deficiency (846 words) [view diff] exact match in snippet view article find links to article
Miles, Judith H.; Carpenter, Nancy J. (1991-02-01). "Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21
Wieacker syndrome (1,415 words) [view diff] exact match in snippet view article find links to article
2021-04-26. Miles, Judith H.; Carpenter, Nancy J. (1991). "Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21
B K Thelma (936 words) [view diff] exact match in snippet view article find links to article
anti-Parkinsonian, anti-rheumatoid drugs Identification of new gene(s) for X-linked mental retardation and Parkinson's disease Unraveling genome signatures with implication
Intellectual disability (9,918 words) [view diff] exact match in snippet view article find links to article
de Jager F, van den Helm B, Kremer H, et al. (July 1999). "X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3". American
SIN3A (3,125 words) [view diff] exact match in snippet view article find links to article
WS, Speicher DW, Shiekhattar R (February 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
List of diseases (M) (2,463 words) [view diff] no match in snippet view article
retardation epilepsy Mental retardation gynecomastia obesity X linked Mental retardation hip luxation G6PD variant Mental retardation hypocupremia
Chromatin remodeling (5,072 words) [view diff] exact match in snippet view article find links to article
Arginine Methyltransferases (PRMT). ATRX-syndrome (α-thalassemia X-linked mental retardation) and α-thalassemia myelodysplasia syndrome are caused by mutations
MECP2 (3,507 words) [view diff] exact match in snippet view article find links to article
mutations are associated with some cases of moderate to severe X-linked mental retardation. Mutations in the gene have also been found in males with severe
HDAC1 (5,790 words) [view diff] exact match in snippet view article find links to article
WS, Speicher DW, Shiekhattar R (February 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
Histone deacetylase 2 (4,531 words) [view diff] exact match in snippet view article find links to article
WS, Speicher DW, Shiekhattar R (February 2003). "A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing
PAK1 (5,207 words) [view diff] exact match in snippet view article find links to article
(April 2012). "PAK in Alzheimer disease, Huntington disease and X-linked mental retardation". Cellular Logistics. 2 (2): 117–125. doi:10.4161/cl.21602. PMC 3490962
Surveyor nuclease assay (3,170 words) [view diff] exact match in snippet view article find links to article
detect germline mutations in human genes. For example, ATRX for X-linked mental retardation, and the HBB gene linked to β-thalassemia. The assay has also
Cleft lip and cleft palate (10,311 words) [view diff] exact match in snippet view article find links to article
de Jager F, van den Helm B, Kremer H, et al. (July 1999). "X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3". American
List of human clusters of differentiation (464 words) [view diff] exact match in snippet view article find links to article
CD231 Tetraspanin-7 - TSPAN7. The associated gene is linked to X-linked mental retardation and neuropsychiatric diseases such as Huntington's chorea, fragile
Sex differences in human physiology (10,370 words) [view diff] exact match in snippet view article find links to article
X-linked ichythyosis Becker muscular dystrophy Non-specific X-linked mental retardation X-linked dominant disorders include: Xg blood group vitamin D
List of OMIM disorder codes (18,861 words) [view diff] exact match in snippet view article find links to article
COL11A2 Stiff skin syndrome; 184900; FBN1 Stocco dos Santos X-linked mental retardation syndrome; 300434; SHROOM4 Stomach cancer; 137215; KRAS Stomatocytosis