Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type

H. Montemarano; D. I. Bulas; R. Chandra; C. Tifft

doi:10.1007/bf02019070

Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type

Pediatric Radiology ◽

10.1007/bf02019070 ◽

1995 ◽

Vol 25 (6) ◽

pp. 469-471 ◽

Cited By ~ 10

Author(s):

H. Montemarano ◽

D. I. Bulas ◽

R. Chandra ◽

C. Tifft

Keyword(s):

Prenatal Diagnosis ◽

Kidney Disease ◽

Syndrome Type ◽

Type Ii ◽

Glomerulocystic Kidney Disease ◽

Glomerulocystic Kidney ◽

Short Rib Polydactyly Syndrome

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Majewski syndrome (short-rib polydactyly syndrome type II): prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. Case report and literature review

Congenital Anomalies ◽

10.1111/cga.12066 ◽

2014 ◽

pp. n/a-n/a

Author(s):

Gabriele Tonni ◽

Marcella Palmisano ◽

Alessandro Ventura ◽

Gianpaolo Grisolia ◽

Ave Maria Baffico ◽

...

Keyword(s):

Case Report ◽

Prenatal Diagnosis ◽

Literature Review ◽

Growth Plate ◽

Syndrome Type ◽

Type Ii ◽

Histological Features ◽

Short Rib Polydactyly Syndrome

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Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease

Human Pathology ◽

10.1016/j.humpath.2016.04.005 ◽

2016 ◽

Vol 55 ◽

pp. 24-29

Author(s):

Takashi Iijima ◽

Junichi Hoshino ◽

Koki Mise ◽

Keiichi Sumida ◽

Tatsuya Suwabe ◽

...

Keyword(s):

Kidney Disease ◽

Syndrome Type ◽

Glomerulocystic Kidney Disease ◽

Glomerulocystic Kidney

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Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2012.01.020 ◽

2012 ◽

Vol 51 (1) ◽

pp. 100-105 ◽

Cited By ~ 11

Author(s):

Chih-Ping Chen ◽

Tung-Yao Chang ◽

Chen-Yu Chen ◽

Tao-Yeuan Wang ◽

Fuu-Jen Tsai ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Molecular Analysis ◽

Syndrome Type ◽

Type Ii ◽

Imaging Findings ◽

Short Rib Polydactyly Syndrome

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PO-0786 Prenatal Diagnosis Of Glomerulocystic Kidney Disease Due To Mutation Hnf 1b. Importance Of Genetic Test

Archives of Disease in Childhood ◽

10.1136/archdischild-2014-307384.1422 ◽

2014 ◽

Vol 99 (Suppl 2) ◽

pp. A511.3-A511

Author(s):

JC Len Aguilera ◽

C Salado Marín ◽

JI Montiano Jorge ◽

G Perez de Nanclares Leal

Keyword(s):

Prenatal Diagnosis ◽

Kidney Disease ◽

Genetic Test ◽

Glomerulocystic Kidney Disease ◽

Glomerulocystic Kidney

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Prenatal diagnosis of Pfeiffer syndrome type II

Prenatal Diagnosis ◽

10.1002/pd.960 ◽

2004 ◽

Vol 24 (8) ◽

pp. 644-646 ◽

Cited By ~ 19

Author(s):

Bettina Blaumeiser ◽

Philip Loquet ◽

Wim Wuyts ◽

Markus M. Nöthen

Keyword(s):

Prenatal Diagnosis ◽

Syndrome Type ◽

Type Ii ◽

Pfeiffer Syndrome

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Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

The American Journal of Human Genetics ◽

10.1016/j.ajhg.2016.05.028 ◽

2016 ◽

Vol 99 (1) ◽

pp. 174-187 ◽

Cited By ~ 62

Author(s):

Nikhita Ajit Bolar ◽

Christelle Golzio ◽

Martina Živná ◽

Gaëlle Hayot ◽

Christine Van Hemelrijk ◽

...

Keyword(s):

Kidney Disease ◽

Autosomal Dominant ◽

Loss Of Function ◽

Glomerulocystic Kidney Disease ◽

Glomerulocystic Kidney

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Glomerulocystic Kidney Disease, Hypoplastic, Familial (GCKD, 17 cen-q21.3)

Encyclopedia of Genetics, Genomics, Proteomics and Informatics ◽

10.1007/978-1-4020-6754-9_6927 ◽

2008 ◽

pp. 802-802

Keyword(s):

Kidney Disease ◽

Glomerulocystic Kidney Disease ◽

Glomerulocystic Kidney

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Digital glomerular reconstruction in a patient with a sporadic adult form of glomerulocystic kidney disease

American Journal of Kidney Diseases ◽

10.1016/s0272-6386(00)70329-5 ◽

2000 ◽

Vol 35 (2) ◽

pp. 216-220 ◽

Cited By ~ 4

Author(s):

Jian She Liu ◽

Isao Ishikawa ◽

Yasuhito Saito ◽

Tetuya Nakazawa ◽

Naohisa Tomosugi ◽

...

Keyword(s):

Kidney Disease ◽

Adult Form ◽

Glomerulocystic Kidney Disease ◽

Glomerulocystic Kidney

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Glomerulocystic kidney disease in an adult presenting as end-stage renal failure

Nephrology Dialysis Transplantation ◽

10.1093/ndt/14.5.1276 ◽

1999 ◽

Vol 14 (5) ◽

pp. 1276-1278 ◽

Cited By ~ 3

Author(s):

E Abderrahim

Keyword(s):

Renal Failure ◽

Kidney Disease ◽

End Stage Renal Failure ◽

Glomerulocystic Kidney Disease ◽

Glomerulocystic Kidney ◽

End Stage

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Short Rib-Polydactyly Syndrome, Type II

Abnormal Skeletal Phenotypes ◽

10.1007/3-540-30361-8_103 ◽

2006 ◽

pp. 868-869

Keyword(s):

Syndrome Type ◽

Type Ii ◽

Short Rib Polydactyly Syndrome

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