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...

Disgrifiad llawn

Manylion Llyfryddiaeth
Prif Awduron:	Scheinman, S, Pook, M, Wooding, C, Pang, J, Frymoyer, P, Thakker, R
Fformat:	Journal article
Iaith:	English
Cyhoeddwyd:	1993

Eitemau Tebyg

LOCALIZATION OF THE GENE CAUSING X-LINKED RECESSIVE NEPHROLITHIASIS TO THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
gan: Scheinman, S, et al.
Cyhoeddwyd: (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
gan: Thakker, R, et al.
Cyhoeddwyd: (1994)

Characterization of carrier females and affected males with X-linked recessive nephrolithiasis.
gan: Reinhart, S, et al.
Cyhoeddwyd: (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)
gan: Thakker, R, et al.
Cyhoeddwyd: (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.
gan: Pook, M, et al.
Cyhoeddwyd: (1993)

FURTHER-STUDIES ON CONSERVED LOCI IN XP11.22-]P11.21
gan: Boyd, Y, et al.
Cyhoeddwyd: (1993)

YAC CONTIGS AND PHYSICAL MAPPING OF XP11.23-]P11.22
gan: Fisher, S, et al.
Cyhoeddwyd: (1994)

Clinical features of X-linked nephrolithiasis in childhood.
gan: Langlois, V, et al.
Cyhoeddwyd: (1998)

YAC MAPPING OF THE WISKOTT-ALDRICH SYNDROME LOCUS IN XP11.31-]P11.22
gan: Kwan, S, et al.
Cyhoeddwyd: (1993)

Prenatally detected six duplications at Xp22.33-p11.22: a case report
gan: Xue Zhang, et al.
Cyhoeddwyd: (2023-04-01)

Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report
gan: Halima Al-Shehhi, et al.
Cyhoeddwyd: (2019-09-01)

HEREDITARY NEPHROLITHIASIS IS ASSOCIATED WITH MUTATIONS IN AN X-LINKED CHLORIDE CHANNEL GENE
gan: Lloyd, S, et al.
Cyhoeddwyd: (1995)

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
gan: Christina Grau, et al.
Cyhoeddwyd: (2017-01-01)

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.
gan: Thakker, R, et al.
Cyhoeddwyd: (1990)

A Rare Novel Copy Number Variation of Xp22.33-p11.22 Duplication is Associated with Congenital Heart Defects
gan: Juan Zhang, et al.
Cyhoeddwyd: (2015-01-01)

A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy
gan: Jingwei Liu, et al.
Cyhoeddwyd: (2021-03-01)

Clinical recognition of X-linked recessive nephrocalcinosis (XRN) in childhood.
gan: Langlois, V, et al.
Cyhoeddwyd: (1997)

CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES-11 AND XP
gan: Pook, M, et al.
Cyhoeddwyd: (1991)

LINKAGE ANALYSIS OF 3 CLONED DNA-SEQUENCES, DXS294, CDR AND DXS105, IN X-LINKED RECESSIVE HYPOPARATHYROID FAMILIES
gan: Thakker, R, et al.
Cyhoeddwyd: (1991)

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

CONSTRUCTION AND ANALYSIS OF LINKING LIBRARIES FROM CHROMOSOMES XP AND 11
gan: Pook, M, et al.
Cyhoeddwyd: (1993)

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

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

Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1
gan: Qingming Wang, et al.
Cyhoeddwyd: (2020-05-01)

Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).
gan: Dixon, P, et al.
Cyhoeddwyd: (1996)

EagI and NotI linking clones from human chromosomes 11 and Xp.
gan: Pook, M, et al.
Cyhoeddwyd: (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.
gan: Fisher, S, et al.
Cyhoeddwyd: (1995)

MAPPING OF THE X-LINKED IDIOPATHIC HYPOPARATHYROID GENE TO XQ26-XQ27 BY LINKAGE STUDIES
gan: Thakker, R, et al.
Cyhoeddwyd: (1989)

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
gan: Magdalena Danyel, et al.
Cyhoeddwyd: (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
gan: Jie Xu, et al.
Cyhoeddwyd: (2023-01-01)

Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review
gan: Madan Gopal Choudhary, et al.
Cyhoeddwyd: (2013-01-01)

The Constitutional Balanced Translocation t(11;22)(q23;q11.2)-An Indian Account
gan: Vandana Kamath, et al.
Cyhoeddwyd: (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
gan: Fang Ping, et al.
Cyhoeddwyd: (2008-07-01)

Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome
gan: Mahsaw Mansoor, et al.
Cyhoeddwyd: (2023-03-01)

Construction of a YAC contig and an STS map spanning 3.6 megabase pairs in Xp22.1.
gan: Trump, D, et al.
Cyhoeddwyd: (1996)

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27.
gan: Trump, D, et al.
Cyhoeddwyd: (1998)

Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11.
gan: Pook, M, et al.
Cyhoeddwyd: (1993)

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.
gan: Martínez, F, et al.
Cyhoeddwyd: (2001)

Mutations in the chloride channel gene (CLCN5) are associated with hypercalciuric rickets and nephrolithiasis.
gan: Lloyd, SE, et al.
Cyhoeddwyd: (1996)

MLL-SEPT5 Fusion Transcript in Myelodysplastic Syndrome Patient With t(11;22)(q23;q11)
gan: Duobing Zou, et al.
Cyhoeddwyd: (2021-12-01)