Lista de obras - Boris Utsch - Dominio Público Uruguay

A hospital-based intermittent nocturnal hemodialysis program for children and adolescents

artículo científico publicado en 2010

A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

artículo científico publicado en 2002

Association of homozygous alpha-thalassaemia of the Southeast Asian type with hypospadias: still an intriguing enigma

artículo científico publicado en 2002

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

scientific article published on 01 October 2006

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

artículo científico publicado en 2007

Dysphagia due to triple A syndrome: successful treatment of achalasia by balloon dilatation

scientific article published on 01 September 2007

Epidemiological survey of 214 families with bladder exstrophy-epispadias complex

artículo científico publicado en 2008

Evidence of Oligogenic Inheritance in Nephronophthisis

article

Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias

artículo científico publicado en 2003

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization

artículo científico publicado en 2005

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease

scientific article published on 01 January 2005

Homozygous alpha-thalassemia associated with hypospadias: SEA-type deletion does not affect expression of the -14 gene and loss of the straight theta1-globin gene on 16p13.3 is compensated by its duplicate straight theta2 on chromosome 10

scientific article published on 01 July 2001

Hypercalciuria in patients with CLCN5 mutations

artículo científico publicado en 2006

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

artículo científico publicado en 2009

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

artículo científico publicado en 2006

Immature gastric teratoma of the lesser curvature in a male infant

artículo científico publicado en 2001

Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?

artículo científico publicado en 2008

Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2–q34.2 by total genome search for linkage

article

Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome

artículo científico publicado en 2007

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

artículo científico publicado en 2007

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

artículo científico publicado en 2005

Nephrotic syndrome as paraneoplastic syndrome of Hodgkin disease

artículo científico publicado en 1999

Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.

artículo científico publicado en 2002

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

artículo científico publicado en 2006

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe

artículo científico publicado en 2011

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model

artículo científico publicado en 2004

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease.

artículo científico publicado en 2006

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

artículo científico publicado en 2006

[Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)]

artículo científico publicado en 2005

Lista de obras de Boris Utsch

A hospital-based intermittent nocturnal hemodialysis program for children and adolescents

A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

Association of homozygous alpha-thalassaemia of the Southeast Asian type with hypospadias: still an intriguing enigma

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

Dysphagia due to triple A syndrome: successful treatment of achalasia by balloon dilatation

Epidemiological survey of 214 families with bladder exstrophy-epispadias complex

Evidence of Oligogenic Inheritance in Nephronophthisis

Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease

Homozygous alpha-thalassemia associated with hypospadias: SEA-type deletion does not affect expression of the -14 gene and loss of the straight theta1-globin gene on 16p13.3 is compensated by its duplicate straight theta2 on chromosome 10

Hypercalciuria in patients with CLCN5 mutations

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

Immature gastric teratoma of the lesser curvature in a male infant

Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?

Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2–q34.2 by total genome search for linkage

Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Nephrotic syndrome as paraneoplastic syndrome of Hodgkin disease

Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model

Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease.

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

[Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)]