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searching for Holoprosencephaly 24 found (87 total)

alternate case: holoprosencephaly

CDON (1,093 words) [view diff] exact match in snippet view article find links to article

signaling pathway. Mutations in CDON gene has been associated with Holoprosencephaly which is structural anomaly of the brain, in which the developing
Micrognathism (318 words) [view diff] exact match in snippet view article find links to article
Martínez-Frías, ML; Martín, M; Pardo, M; Torres, M; Cohen MM, Jr (1993). "Holoprosencephaly and hypognathia with two proboscides: report of a case and review
Pr/set domain 15 (255 words) [view diff] exact match in snippet view article find links to article
function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly https://doi.org/10.1126/sciadv.aax9852 GRCh38: Ensembl release 89:
SIM2 (2,091 words) [view diff] exact match in snippet view article find links to article
"Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to
Yim–Ebbin syndrome (254 words) [view diff] exact match in snippet view article find links to article
Donnai, D. (1994). "Bilateral brachial amelia with facial clefts and holoprosencephaly". Clinical Dysmorphology. 3 (3): 266–269. doi:10.1097/00019605-199407000-00015
MNX1 (913 words) [view diff] exact match in snippet view article find links to article
(1995). "A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36". Nat. Genet. 11 (1): 93–5. doi:10.1038/ng0995-93.
Stephen W. Scherer (2,021 words) [view diff] exact match in snippet view article find links to article
Genome Project. Through collaborative research, genes causative in holoprosencephaly, renal carcinoma, Williams syndrome, sacral agenesis, citrullinemia
GDF1 (544 words) [view diff] exact match in snippet view article find links to article
NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly". Mol. Genet. Metab. 98 (1–2): 225–34. doi:10.1016/j.ymgme.2009.05
CTBP1 (2,206 words) [view diff] exact match in snippet view article find links to article
terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIF". J. Biol. Chem. 275 (50): 39762–6. doi:10.1074/jbc
7-Dehydrocholesterol reductase (1,376 words) [view diff] exact match in snippet view article find links to article
Waye JS, Porter FD (Sep 2001). "Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype". American Journal of Medical
EAPP (539 words) [view diff] exact match in snippet view article find links to article
PMID 15489334. Kamnasaran D, Chen CP, Devriendt K, et al. (2005). "Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential
PPP2R3C (397 words) [view diff] exact match in snippet view article find links to article
gamma". Kamnasaran D, Chen CP, Devriendt K, et al. (2005). "Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential
PPP2R3C (397 words) [view diff] exact match in snippet view article find links to article
gamma". Kamnasaran D, Chen CP, Devriendt K, et al. (2005). "Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential
Neuron-derived orphan receptor 1 (1,256 words) [view diff] exact match in snippet view article find links to article
2004). "Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1". Human Mutation
Lanosterol synthase (2,504 words) [view diff] exact match in snippet view article find links to article
human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)". Human Genetics. 105 (5): 489–95. doi:10.1007/s004390051135
List of diseases (A) (1,915 words) [view diff] exact match in snippet view article
total intestinal Aggressive fibromatosis Aging Agnathia Agnathia holoprosencephaly situs inversus Agnosia, primary visual Agoraphobia Agraphia Agyria
Development of the endocrine system (3,002 words) [view diff] exact match in snippet view article find links to article
(October 2011). "Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction". J Clin
List of OMIM disorder codes (18,858 words) [view diff] exact match in snippet view article find links to article
deficiency; 253270; HLCS Holoprosencephaly-2; 157170; SIX3 Holoprosencephaly-3; 142945; SHH Holoprosencephaly-4; 142946; TGIF Holoprosencephaly-5; 609637; ZIC2
STIL (1,014 words) [view diff] exact match in snippet view article find links to article
chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly". Cytogenet. Genome Res. 97 (1–2): 62–7. doi:10.1159/000064057. PMID 12438740
HDAC1 (5,654 words) [view diff] exact match in snippet view article find links to article
terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIF". The Journal of Biological Chemistry. 275 (50):
List of diseases (M) (2,459 words) [view diff] exact match in snippet view article
immunodeficiency Microcephaly with spastic q­riplegia Microcephaly, holoprosencephaly, and intrauterine growth retardation Microcephaly, primary autosomal
DKK1 (2,024 words) [view diff] exact match in snippet view article find links to article
and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly". Cytogenetics and Cell Genetics. 89 (3–4): 220–4. doi:10.1159/000015618
FBXW11 (2,984 words) [view diff] exact match in snippet view article find links to article
Sistermans EA, Brunner HG, Geurts van Kessel A, de Vries BB (2006). "Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing
List of events in NHGRI history (5,167 words) [view diff] exact match in snippet view article find links to article
Don and Linda Carter Foundation sponsor the first NIH Conference on Holoprosencephaly. May 2000 – Scientists in Japan and Germany report in the May 18 issue