1 |
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
6
61
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Vodopiutz J...Zenker M
|
26123727 |
2015 |
2 |
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
6
61
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Jinks RN...Strauss KA
|
26070982 |
2015 |
3 |
Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.
6
61
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Ben-Omran T...Tropepe V
|
25873735 |
2015 |
4 |
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
61
6
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Colin E...Antignac C
|
25466283 |
2014 |
5 |
Late-onset nephrotic syndrome and severe cerebellar atrophy in Galloway-Mowat syndrome.
61
6
|
Steiss JO...Hahn A
|
16217710 |
2005 |
6 |
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
6
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Nicolas E...Delague V
|
20531441 |
2010 |
7 |
A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.
6
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Delague V...Claustres M
|
12030328 |
2002 |
8 |
New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family.
6
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Megarbane A...Urtizberea A
|
11391656 |
2001 |
9 |
Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series.
61
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Sinha R...Mandal K
|
31655822 |
2020 |
10 |
Fetal phenotype of Galloway-Mowat syndrome 3 caused by a specific OSGEP variant.
61
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Yang Y...Li DZ
|
31564459 |
2019 |
11 |
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
61
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Arrondel C...Mollet G
|
31481669 |
2019 |
12 |
WDR73-related galloway mowat syndrome with collapsing glomerulopathy.
61
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El Younsi M...M'rad R
|
30315938 |
2019 |
13 |
Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
61
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Domingo-Gallego A...Ars E
|
30975089 |
2019 |
14 |
Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.
61
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Lin PY...Tsai JD
|
30558655 |
2018 |
15 |
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
61
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Fujita A...Miyake N
|
30427554 |
2018 |
16 |
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.
61
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Braun DA...Hildebrandt F
|
30079490 |
2018 |
17 |
Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations.
61
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Wang PZT...Filler G
|
30141175 |
2018 |
18 |
A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.
61
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Hyun HS...Cheong HI
|
30053862 |
2018 |
19 |
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
61
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Al-Rakan MA...Alfadhel M
|
29929488 |
2018 |
20 |
Nephrotic syndrome: Novel monogenic causes of Galloway-Mowat syndrome.
61
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Carney EF
|
28890537 |
2017 |
21 |
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
61
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Braun DA...Hildebrandt F
|
28805828 |
2017 |
22 |
Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent.
61
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Naidu GD...Gangadhar T
|
28937085 |
2017 |
23 |
An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway.
61
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Mathiowetz AJ...Campellone KG
|
28720660 |
2017 |
24 |
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
61
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Rosti RO...Gleeson JG
|
28280135 |
2017 |
25 |
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
61
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Jiang C...Wu L
|
27983999 |
2017 |
26 |
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
61
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Rosti RO...Gleeson JG
|
27001912 |
2016 |
27 |
Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.
61
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Zeybek C...Gok F
|
27403357 |
2016 |
28 |
Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome.
61
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Krishnamurthy S...Zenker M
|
22144119 |
2012 |
29 |
Galloway-Mowat syndrome: neurologic features in two sibling pairs.
61
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Ekstrand JJ...Stafstrom CE
|
22759691 |
2012 |
30 |
Diffuse mesangial sclerosis - Report of two cases.
61
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Vankalakunti M...Ballal SH
|
23087559 |
2012 |
31 |
Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report.
61
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Malaki M...Rafeey M
|
24829636 |
2012 |
32 |
Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings.
61
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Chen CP...Wang W
|
21791310 |
2011 |
33 |
Neuropathological homology in true Galloway-Mowat syndrome.
61
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Keith J...Robitaille Y
|
21233460 |
2011 |
34 |
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature.
61
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Pezzella M...Minetti C
|
20083416 |
2010 |
35 |
Recurrence of Galloway Mowat syndrome and associated prenatal imaging findings.
61
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Horton AL...Strauss RA
|
19177459 |
2009 |
36 |
Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.
61
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Dietrich A...Zenker M
|
18594871 |
2008 |
37 |
Galloway-Mowat syndrome.
61
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Akhtar N...Hafeez F
|
18798594 |
2008 |
38 |
Collapsing glomerulopathy in Galloway-Mowat syndrome: a case report and review of the literature.
61
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Sartelet H...Doco-Fenzy M
|
18276083 |
2008 |
39 |
Anesthetic management of a patient with Galloway-Mowat syndrome.
61
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Bailey A...Georges L
|
17897280 |
2007 |
40 |
Perinatal imaging findings of Galloway-Mowat syndrome.
61
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Chen CP...Wang W
|
18019379 |
2007 |
41 |
Recurrent Galloway Mowat syndrome associated with abnormal prenatal sonographic findings.
61
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Chen CP...Wang W
|
16719284 |
2006 |
42 |
Prenatal magnetic resonance imaging of Galloway-Mowat syndrome.
61
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Chen CP...Wang W
|
15966048 |
2005 |
43 |
Late-onset growth restriction in Galloway-Mowat syndrome: a case report.
61
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Kang L...Lin SJ
|
15712336 |
2005 |
44 |
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome.
61
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Zenker M...Neumann LM
|
15372515 |
2004 |
45 |
Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome.
61
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Shiihara T...Hayasaka K
|
12693786 |
2003 |
46 |
Podocyte proteins in Galloway-Mowat syndrome.
61
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Srivastava T...Alon US
|
11793093 |
2001 |
47 |
Galloway-Mowat syndrome: a glomerular basement membrane disorder?
61
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Lin CC...Shih CS
|
11519896 |
2001 |
48 |
Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay.
61
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de Vries BB...Winter RM
|
11310991 |
2001 |
49 |
A stepwise approach to the treatment of early onset nephrotic syndrome.
61
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Licht C...Querfeld U
|
11045390 |
2000 |
50 |
Additional findings in Galloway-Mowat syndrome.
61
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Kucharczuk K...Kaplan BS
|
10805469 |
2000 |