Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.

X-linked recessive nephrolithiasis is associated with kidney stones and renal tubular dysfunction in childhood progressing to renal failure in adulthood. The primary defect causing this renal tubular disorder is unknown and determining the chromosomal location of the mutant gene would represent an i...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Scheinman, S, Pook, M, Wooding, C, Pang, J, Frymoyer, P, Thakker, R
التنسيق:	Journal article
اللغة:	English
منشور في:	1993

مواد مشابهة

LOCALIZATION OF THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
حسب: Scheinman, S, وآخرون
منشور في: (1992)

MAPPING OF 2 HEREDITARY RENAL TUBULAR DISORDERS ASSOCIATED WITH KIDNEY-STONES, AND REFERRED TO AS DENT-DISEASE AND X-LINKED RECESSIVE NEPHROLITHIASIS, TO CHROMOSOME-XP11
حسب: Thakker, R, وآخرون
منشور في: (1994)

Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.
حسب: Reinhart, S, وآخرون
منشور في: (1995)

THE GENE CAUSING DENTS DISEASE, A RENAL FANCONI SYNDROME WITH NEPHROCALCINOSIS AND KIDNEY-STONES, IS ON THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
حسب: Thakker, R, وآخرون
منشور في: (1993)

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
حسب: Pook, M, وآخرون
منشور في: (1993)

FURTHER-STUDIES ON CONSERVED LOCI IN XP11.22-]P11.21
حسب: Boyd, Y, وآخرون
منشور في: (1993)

YAC CONTIGS AND PHYSICAL MAPPING OF XP11.23-]P11.22
حسب: Fisher, S, وآخرون
منشور في: (1994)

Clinical features of X-linked nephrolithiasis in childhood.
حسب: Langlois, V, وآخرون
منشور في: (1998)

YAC MAPPING OF THE WISKOTT-ALDRICH SYNDROME LOCUS IN XP11.31-]P11.22
حسب: Kwan, S, وآخرون
منشور في: (1993)

Prenatally detected six duplications at Xp22.33-p11.22: a case report
حسب: Xue Zhang, وآخرون
منشور في: (2023-04-01)

Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report
حسب: Halima Al-Shehhi, وآخرون
منشور في: (2019-09-01)

HEREDITARY NEPHROLITHIASIS IS ASSOCIATED WITH MUTATIONS IN AN X-LINKED CHLORIDE CHANNEL GENE
حسب: Lloyd, S, وآخرون
منشور في: (1995)

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
حسب: Christina Grau, وآخرون
منشور في: (2017-01-01)

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.
حسب: Thakker, R, وآخرون
منشور في: (1990)

A Rare Novel Copy Number Variation of Xp22.33-p11.22 Duplication is Associated with Congenital Heart Defects
حسب: Juan Zhang, وآخرون
منشور في: (2015-01-01)

A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy
حسب: Jingwei Liu, وآخرون
منشور في: (2021-03-01)

Clinical recognition of X-linked recessive nephrocalcinosis (XRN) in childhood.
حسب: Langlois, V, وآخرون
منشور في: (1997)

CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES-11 AND XP
حسب: Pook, M, وآخرون
منشور في: (1991)

LINKAGE ANALYSIS OF 3 CLONED DNA-SEQUENCES, DXS294, CDR AND DXS105, IN X-LINKED RECESSIVE HYPOPARATHYROID FAMILIES
حسب: Thakker, R, وآخرون
منشور في: (1991)

Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22.
حسب: Miller, A, وآخرون
منشور في: (1995)

CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES XP AND 11
حسب: Pook, M, وآخرون
منشور في: (1993)

Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.
حسب: Thakker, R
منشور في: (2000)

Recurrent fever of unknown origin and unexplained bacteremia in a patient with a novel 4.5 Mb microdeletion in Xp11.23-p11.22
حسب: Cho-Rong Lee, وآخرون
منشور في: (2024-08-01)

Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1
حسب: Qingming Wang, وآخرون
منشور في: (2020-05-01)

Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).
حسب: Dixon, P, وآخرون
منشور في: (1996)

EagI and NotI linking clones from human chromosomes 11 and Xp.
حسب: Pook, M, وآخرون
منشور في: (1996)

Construction of two YAC contigs in human Xp11.23-p11.22, one encompassing the loci OATL1, GATA, TFE3, and SYP, the other linking DXS255 to DXS146.
حسب: Fisher, S, وآخرون
منشور في: (1995)

MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES
حسب: Thakker, R, وآخرون
منشور في: (1989)

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
حسب: Magdalena Danyel, وآخرون
منشور في: (2019-01-01)

P362: Newborn with 4 syndromes (Down, Turner, Xp11.22 duplication and 3q duplication) characterized by G-banding, FISH, microarray and optical genome mapping
حسب: Jie Xu, وآخرون
منشور في: (2023-01-01)

Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review
حسب: Madan Gopal Choudhary, وآخرون
منشور في: (2013-01-01)

The Constitutional Balanced Translocation t(11;22)(q23;q11.2)-An Indian Account
حسب: Vandana Kamath, وآخرون
منشور في: (2019-01-01)

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement
حسب: Fang Ping, وآخرون
منشور في: (2008-07-01)

Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome
حسب: Mahsaw Mansoor, وآخرون
منشور في: (2023-03-01)

Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.
حسب: Trump, D, وآخرون
منشور في: (1996)

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
حسب: Trump, D, وآخرون
منشور في: (1998)

Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11.
حسب: Pook, M, وآخرون
منشور في: (1993)

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.
حسب: Martínez, F, وآخرون
منشور في: (2001)

Mutations in the chloride channel gene (CLCN5) are associated with hypercalciuric rickets and nephrolithiasis.
حسب: Lloyd, SE, وآخرون
منشور في: (1996)

MLL-SEPT5 Fusion Transcript in Myelodysplastic Syndrome Patient With t(11;22)(q23;q11)
حسب: Duobing Zou, وآخرون
منشور في: (2021-12-01)