Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43 - Wikidata - wikimedia - TriplyDB

Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43

Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43

http://www.wikidata.org/entity/Q24539037

about

A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.Homozygosity mapping of the Achromatopsia locus in the Pingelapese Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12 Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.Current status of linkage studies in hereditary prostate cancer.Molecular basis of autosomal recessive diseases among the Palestinian Arabs.Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.A genome-wide homozygosity association study identifies runs of homozygosity associated with rheumatoid arthritis in the human major histocompatibility complex.Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.Kenny-Caffey syndrome type 1 in an Egyptian girl Anesthetic management of a case of Sanjad-Sakati syndrome Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening Sanjad-Sakati Syndrome in Omani children Genetic Variants Associated with Circulating Parathyroid Hormone.The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.Neurological manifestations in children with Sanjad-Sakati syndrome.Hypoparathyroidism-retardation-dysmorphism syndrome.Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome.Novel human, mouse and xenopus genes encoding a member of the RAS superfamily of low-molecular-weight GTP-binding proteins and its downregulation in W/WV mouse jejunum.Case report: Management of severe posterior open bite due to primary failure of eruption.Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.

P2860

Q24533422-9586B4A6-452B-4209-A958-5DB8231BF44B Q24540079-F4EE1FC2-2CAD-41CE-B736-E9FB060A8651 Q28301779-2CB1E936-25FE-4BB5-9233-D97294BC4301 Q30274621-1DB6353D-6C72-458A-8676-114AEFBDEF75 Q34078544-C4ED30C2-E80B-4AB7-B6CB-330BC79C9696 Q34125582-8D46E67E-46DA-4064-97BA-ED92A6E6F128 Q34155302-BF33B2B2-E5A5-4AE2-863A-29E30E5C7FEB Q34247086-6B4A8728-C6D4-4373-9D33-25C79800D9B8 Q34254861-6FCE5706-6D0D-472C-8188-55C110DA75FF Q34329661-41FD7308-0940-48B8-BEF2-70E447915395 Q36331686-5907BBD7-37DA-45DF-8EC0-3D9A23AF7022 Q37300170-ABC12568-C7EA-4BEC-8CFE-36DA725EE01F Q37587505-D27C9A86-4978-49E6-8458-2631997FD97C Q38682993-F256D173-546B-4CCA-8B8A-4409EB2BCA82 Q38785985-9A1C7B39-FC68-4429-A2D6-9AC884EA4A3E Q39385414-AA937A78-3161-4756-AF1C-B0F5817368BE Q41931858-D5F770CB-059A-483C-AAF3-4F5C4F7B2231 Q42287422-7D707C67-B432-46F3-A03B-B51CBB2A3D72 Q43025350-235AB7F8-B763-43EA-BA8E-9087D2A03E4A Q44733981-B021A059-F105-4B10-A337-521DC178F828 Q51769519-B7F9F459-B95B-4841-A51D-0344A66DE4CE Q52176345-A277B8A6-D3CF-478B-AEA1-9CFCC197EC6F

P2860

Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43

http://www.wikidata.org/entity/Q24539037

description

1998 nî lūn-bûn

@nan

1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

1998 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

1998年の論文

@ja

1998年論文

@yue

1998年論文

@zh-hant

1998年論文

@zh-hk

1998年論文

@zh-mo

1998年論文

@zh-tw

1998年论文

@wuu

name

Homozygosity and linkage-diseq ...... interval on chromosome 1q42-43

@ast

Homozygosity and linkage-diseq ...... interval on chromosome 1q42-43

@en

Homozygosity and linkage-diseq ...... interval on chromosome 1q42-43

@nl

type

label

Homozygosity and linkage-diseq ...... interval on chromosome 1q42-43

@ast

Homozygosity and linkage-diseq ...... interval on chromosome 1q42-43

@en

Homozygosity and linkage-diseq ...... interval on chromosome 1q42-43

@nl

prefLabel

Homozygosity and linkage-diseq ...... interval on chromosome 1q42-43

@ast

Homozygosity and linkage-diseq ...... interval on chromosome 1q42-43

@en

Homozygosity and linkage-diseq ...... interval on chromosome 1q42-43

@nl

P1433

Q24539037-E5B1D4D2-FAEB-41B7-AB8F-C8E38D9825DB

P1476

Q24539037-2D1DC9B9-2024-4DC0-99C6-9C606514DCC5

P2093

Q24539037-2749F282-2E5D-4EBC-A38E-6C8F970F41A9

Q24539037-2BE8A783-498B-4E4D-A44A-1E3BF8A78EF2

Q24539037-35007F4A-DC27-42F8-81DF-FAF4C8B63C52

Q24539037-516757BE-16A6-4E37-BBF5-35F8E1173A09

Q24539037-D71CA2A3-3018-482B-8EC8-18EAFB2F8550

Q24539037-DA732384-AF87-411F-A948-158694B1B054

P2860

Q24539037-104E5EBB-92F9-4622-B0BC-20F7C1A32914

Q24539037-29CDB082-B472-47B4-8CF6-35A4948608AA

Q24539037-2CC01A3D-B901-4593-B2DA-408B029E3C26

Q24539037-31D21A58-A843-43B5-BCAF-B82B82FD975E

Q24539037-338E6C00-F84C-4CAB-80AF-B7221C6333D5

Q24539037-37DD3869-D70E-4B9F-8F01-BCAEE06F5FEC

Q24539037-51F8539B-4D85-4B49-B9A7-667B81361A65

Q24539037-73C0B052-84E8-4968-B055-7B3101282658

Q24539037-7AADF8A2-1645-4B43-972B-0DA0A1F7AF46

Q24539037-7CC78ABB-ACA4-476A-B89F-538AA021CC34

P304

Q24539037-3155EB0D-979A-45A8-899F-C9413591FDB4

P31

Q24539037-DFECA39F-594D-4E97-AFBE-F2D6ECE3DA45

P3181

Q24539037-ED564FFF-EBE6-4A0D-9DBA-EC1EFE0A5C62

P356

Q24539037-AAF242CB-DDA5-491F-B932-89069AFD5490

P407

Q24539037-55ECC0A0-B40E-43BB-8B15-B48FE0C488F2

P433

Q24539037-CCA2B2DC-F834-441E-A1FD-31375CA84B12

P478

Q24539037-EC9C8F9F-9D34-46AC-9E29-14D0731F6666

P50

Q24539037-292E8C7A-D7DB-451A-B975-D4745EB2EAA0

P577

Q24539037-B4A70DD4-9A9D-42D5-A5CD-63D17AF927FF

P5875

Q24539037-97BE9DD5-6388-49A2-8CDB-0AF6D7570851

P698

Q24539037-4413E016-42CE-47DE-A25C-3EFF9FE00672

P921

Q24539037-7E586D5A-C28A-43F8-937B-0B162E261C92

P932

Q24539037-AC58526E-AD0C-44C9-A37A-B6735E8AF8DE

P3181

P356

P1433

American Journal of Human Genetics

P1476

Homozygosity and linkage-diseq ...... interval on chromosome 1q42-43

@en

P2093

A Kanis

http://www.w3.org/2001/XMLSchema#string

R Carmi

http://www.w3.org/2001/XMLSchema#string

R Gorodischer

http://www.w3.org/2001/XMLSchema#string

R Parvari

http://www.w3.org/2001/XMLSchema#string

S Shalitin

http://www.w3.org/2001/XMLSchema#string

V C Sheffield

http://www.w3.org/2001/XMLSchema#string

P2860

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia

Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

Strategies for multilocus linkage analysis in humans

Positional cloning of the APECED gene

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

P304

163-9

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

3193027

http://www.w3.org/2001/XMLSchema#string

P356

10.1086/301915

http://www.w3.org/2001/XMLSchema#string

P407

P433

1

http://www.w3.org/2001/XMLSchema#string

P478

63

http://www.w3.org/2001/XMLSchema#string

P50

Eli Hershkovitz

P577

1998-07-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

13649142

http://www.w3.org/2001/XMLSchema#string

P698

9634513

http://www.w3.org/2001/XMLSchema#string

P921

P932

1377236

http://www.w3.org/2001/XMLSchema#string