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Literature DB >> 1640526

The urofacial (Ochoa) syndrome revisited.

B Ochoa¹.

Abstract

Entities: Disease

Mesh：

Year: 1992 PMID： 1640526 DOI： 10.1016/s0022-5347(17)36659-4

Source DB: PubMed Journal: J Urol ISSN： 0022-5347 Impact factor: 7.450

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Cited

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8 in total

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

Authors: C Y Wang; B Hawkins-Lee; B Ochoa; R D Walker; J X She
Journal: Am J Hum Genet Date: 1997-06 Impact factor: 11.025

Review 2. Dysfunctional voiding syndromes and vesicoureteral reflux.

Authors: Y L Homsy
Journal: Pediatr Nephrol Date: 1994-02 Impact factor: 3.714

3. Mutations in HPSE2 cause urofacial syndrome.

Authors: Sarah B Daly; Jill E Urquhart; Emma Hilton; Edward A McKenzie; Richard A Kammerer; Malcolm Lewis; Bronwyn Kerr; Helen Stuart; Dian Donnai; David A Long; Berk Burgu; Ozgu Aydogdu; Murat Derbent; Sixto Garcia-Minaur; Willie Reardon; Blanca Gener; Stavit Shalev; Rupert Smith; Adrian S Woolf; Graeme C Black; William G Newman
Journal: Am J Hum Genet Date: 2010-06-11 Impact factor: 11.025

4. Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

Authors: Junfeng Pang; Shu Zhang; Ping Yang; Bobbilynn Hawkins-Lee; Jixin Zhong; Yushan Zhang; Bernardo Ochoa; Jose A G Agundez; Marie-Antoinette Voelckel; Richard B Fisher; Weikuan Gu; Wen-Cheng Xiong; Lin Mei; Jin-Xiong She; Cong-Yi Wang
Journal: Am J Hum Genet Date: 2010-06-11 Impact factor: 11.025

The urofacial (Ochoa) syndrome revisited.

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

Review 2. Dysfunctional voiding syndromes and vesicoureteral reflux.

3. Mutations in HPSE2 cause urofacial syndrome.

4. Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

Review 5. Contemporary and emerging drug treatments for urinary incontinence in children.

Review 6. Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated.

Review 7. Pediatric overactive bladder syndrome: pathophysiology and management.

8. Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes?