Works matching DE "NAIL-patella syndrome"

Results: 34

Internal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome.

Published in:

Vascular & Endovascular Surgery, 2020, v. 54, n. 2, p. 175, doi. 10.1177/1538574419888345

By:

Kraus, Jacqueline;
Jahngir, Muhammad Umair;
Singh, Baljinder;
Qureshi, Adnan I.

Publication type:

Article

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

Published in:

Clinical Kidney Journal, 2015, v. 8, n. 1, p. 113, doi. 10.1093/ckj/sfu129

By:

Edwards, Noel;
Rice, Sarah J.;
Raman, Shreya;
Hynes, Ann Marie;
Srivastava, Shalabh;
Moore, Iain;
Al-Hamed, Mohamed;
Xu, Yaobo;
Santibanez-Koref, Mauro;
Thwaites, David T.;
Gale, Daniel P.;
Sayer, John A.

Publication type:

Article

Nail-patella syndrome—a novel mutation in the LMX1B gene.

Published in:

Clinical Kidney Journal, 2013, v. 6, n. 3, p. 305, doi. 10.1093/ckj/sft035

By:

Nair, Rajesh R.;
Unni, Vavullipathy N.;
Indu, Kadevalappil N.;
Nampoothiri, Sheela;
Mathew, Anil;
Kurian, George;
Vimala, Avadaiammal

Publication type:

Article

NAIL-PATELLA SYNDROME – CASE REPORT.

Published in:

2011

By:

Cristina, Stoica;
Chiriac-Babei, Gh.;
Mariana, Vasilescu;
Roxana, Matei;
Lungu, A.;
Monica, Joiteanu

Publication type:

Case Study

Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described.

Published in:

Nefrologia, 2013, v. 33, n. 4, p. 585, doi. 10.3265/Nefrologia.pre2013.Apr.12006

By:

Álvarez-Martín, Naira;
Gamundi, María J.;
Hernan, Imma;
Carballo, Miguel;
Isabel Luis-Yanes, M.;
García-Nieto, Víctor

Publication type:

Article

Radiographic findings in the nail-patella syndrome.

Published in:

2015

By:

West, James A.;
Louis, Thomas H.

Publication type:

Journal Article

Nail-patella syndrome.

Published in:

Pflügers Archiv: European Journal of Physiology, 2017, v. 469, n. 7/8, p. 927, doi. 10.1007/s00424-017-2013-z

By:

Witzgall, Ralph

Publication type:

Article

Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.

Published in:

Nephrology, 2016, v. 21, n. 9, p. 765, doi. 10.1111/nep.12666

By:

Konomoto, Takao;
Imamura, Hideaki;
Orita, Mayuko;
Tanaka, Etsuko;
Moritake, Hiroshi;
Sato, Yuji;
Fujimoto, Shouichi;
Harita, Yutaka;
Hisano, Satoshi;
Yoshiura, Koh‐ichiro;
Nunoi, Hiroyuki

Publication type:

Article

MEDICAL EPONYMS LINKED TO NAILS.

Published in:

Our Dermatology Online / Nasza Dermatologia Online, 2012, v. 3, n. 4, p. 378, doi. 10.7241/ourd.20124.91

By:

Al Aboud, Khalid

Publication type:

Article

Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report.

Published in:

2016

By:

YUBAO GONG;
CHEN YANG;
YANG LIU;
JIANGUO LIU;
XIN QI

Publication type:

Case Study

A rare case of nephrotic syndrome: 'Nailed' the diagnosis.

Published in:

Journal of Postgraduate Medicine, 2014, v. 60, n. 2, p. 179, doi. 10.4103/0022-3859.132335

By:

Agarwal, S.;
Divecha, C.;
Tullu, M. S.;
Deshmukh, C. T.

Publication type:

Article

Overlooked nail‐patella syndrome: Proteinuria identified during regular health check‐ups at 3 years of age.

Published in:

Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15804

By:

Koyama, Remina;
Umeki, Kaho;
Hashimoto, Shun;
Fujita, Masashi;
Tsugawa, Koji;
Nozu, Kandai;
Tanaka, Hiroshi

Publication type:

Article

Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome.

Published in:

Pediatrics International, 2010, v. 52, n. 5, p. 847, doi. 10.1111/j.1442-200X.2010.03216.x

By:

Gazzola Zen, Paulo Ricardo;
Machado Rosa, Rafael Fabiano;
Graziadio, Carla;
Pawelec da Silva, Alessandra;
Paskulin, Giorgio Adriano

Publication type:

Article

Consecutive successful pregnancies of a patient with nail-patella syndrome.

Published in:

Case Reports in Perinatal Medicine, 2018, v. 7, n. 2, p. N.PAG, doi. 10.1515/crpm-2018-0016

By:

Fadiloglu, Erdem;
Unal, Canan;
Orgul, Gokcen;
Tanacan, Atakan;
Beksac, Ms

Publication type:

Article

Management of patellar problems in skeletally mature patients with nail-patella syndrome.

Published in:

2017

By:

Louboutin, Lucie;
Wascher, Daniel;
Neyret, Philippe

Publication type:

journal article

Retrospective Diagnosis of Nail-patella Syndrome.

Published in:

Indian Journal of Nephrology, 2021, v. 31, n. 5, p. 485, doi. 10.4103/ijn.IJN_172_20

By:

Virani, Zaheer A.;
Rajput, Prashant;
Vora, Hepal;
Shah, Bharat V.

Publication type:

Article

Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy.

Published in:

Indian Journal of Nephrology, 2018, v. 28, n. 1, p. 76, doi. 10.4103/ijn.IJN_362_16

By:

Aboobacker, I. N.;
Krishnakumar, A.;
Narayanan, S.;
Hafeeque, B.;
Gopinathan, J. C.;
Aziz, F.

Publication type:

Article

Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.

Published in:

Pediatric Nephrology, 2024, v. 39, n. 9, p. 2627, doi. 10.1007/s00467-024-06344-2

By:

Banno, Yoshinori;
Ikemiyagi, Masako;
Hamada, Riku;
Nozu, Kandai;
Matsuoka, Kentaro;
Kamimaki, Isamu

Publication type:

Article

Simultaneous kidney and pancreas transplantation in a patient with nail-patella syndrome and insulin-dependent diabetes.

Published in:

Pediatric Nephrology, 2023, v. 38, n. 6, p. 1985, doi. 10.1007/s00467-022-05817-6

By:

Sloane, Peter;
Hunter, Janel Darcy;
Lin, Jen-Jar;
Chen, Ashton

Publication type:

Article

Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.

Published in:

Pediatric Nephrology, 2020, v. 35, n. 9, p. 1647, doi. 10.1007/s00467-020-04564-w

By:

Lei, Li;
Oh, Gia;
Sutherland, Scott;
Abra, Graham;
Higgins, John;
Sibley, Richard;
Troxell, Megan;
Kambham, Neeraja

Publication type:

Article

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.

Published in:

Pediatric Nephrology, 2017, v. 32, n. 10, p. 1845, doi. 10.1007/s00467-016-3462-x

By:

Harita, Yutaka;
Kitanaka, Sachiko;
Isojima, Tsuyoshi;
Ashida, Akira;
Hattori, Motoshi

Publication type:

Article

A Mother's Journey to Diagnose Her Daughter's Rare Disease.

Published in:

Journal of Participatory Medicine, 2013, v. 5, p. 1

By:

White, Wendy

Publication type:

Article

Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives.

Published in:

Journal of Genetic Counseling, 2019, v. 28, n. 5, p. 1011, doi. 10.1002/jgc4.1153

By:

Geerts‐Crabbé, Laura;
Antoine, Pascal;
Brugallé, Elodie;
Ghoumid, Jamal;
Bellengier, Laurence;
Edery, Patrick;
Heron, Delphine;
Manouvrier‐Hanu, Sylvie;
Fantini‐Hauwel, Carole

Publication type:

Article

Prenatal diagnosis of nail patella syndrome: A case report.

Published in:

Indian Journal of Radiology & Imaging, 2017, v. 27, n. 3, p. 329, doi. 10.4103/ijri.IJRI_438_16

By:

Padmanabhan, L. D.;
Yesodharan, D.;
Nampoothiri, S.

Publication type:

Article

A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome.

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0801-3

By:

Yan, Xiaoyi;
Lin, Jie;
Wang, Yifan;
Xuan, Junli;
Yu, Ping;
Guo, Tingwei;
Jin, Fan

Publication type:

Article

LIM Homeobox Transcription Factor 1 Beta associated nephropathy in an infant without Nail-Patella-Syndrome.

Published in:

Asian Journal of Pediatric Nephrology, 2024, v. 7, n. 2, p. 55, doi. 10.4103/ajpn.ajpn_17_24

By:

Rahman, Rehna K.;
Sankar, T Hari;
Pachat, Divya

Publication type:

Article

A case of nail-patella syndrome associated with thyrotoxicosis.

Published in:

2012

By:

Haras, M.;
Vulpoi, C.;
Onose, G.

Publication type:

Case Study

A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome.

Published in:

International Journal of Molecular Sciences, 2014, v. 15, n. 11, p. 20158, doi. 10.3390/ijms151120158

By:

Shujuan Jiang;
Jiubin Zhang;
Dan Huang;
Yuanyuan Zhang;
Xiaoliang Liu;
Yinzhao Wang;
Rong He;
Yanyan Zhao

Publication type:

Article

The role of persistent right umbilical vein in the diagnosis of fetal genetic syndromes.

Published in:

Journal of Obstetrics & Gynaecology Research, 2025, v. 51, n. 1, p. 1, doi. 10.1111/jog.16175

By:

Dizdaroğulları, Gizem Elif;
Demirci, Oya;
Ocal, Aydın;
Kahramanoğlu, Özge;
Akalın, Munip

Publication type:

Article

Median nail damage in nail-patella syndrome associated with triangular lunulae.

Published in:

British Journal of Dermatology, 2015, v. 173, n. 6, p. 1559, doi. 10.1111/bjd.13942

By:

Neri, I.;
Piccolo, V.;
Balestri, R.;
Piraccini, B.M.;
Patrizi, A.

Publication type:

Article

Nail-patella syndrome: report of 11 pediatric cases.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 9, p. 1614, doi. 10.1111/jdv.13683

By:

Figueroa ‐ Silva, O.;
Vicente, A.;
Agudo, A.;
Baliu ‐ Piqué, C.;
Gómez ‐ Armayones, S.;
Aldunce ‐ Soto, M.J.;
Inarejos Clemente, E.J.;
Navallas Irujo, M.;
Gutiérrez de la Iglesia, D.;
González ‐ Enseñat, M.A.

Publication type:

Article

Nail-patella syndrome: "nailing" the diagnosis in three generations.

Published in:

Dermatology Online Journal, 2020, v. 26, n. 7, p. 1, doi. 10.5070/d3267049557

By:

Nguyen Hoang;
Harper, Haleigh;
Syscos, Spyros;
Rickstrew, Jace;
Kaplan, David

Publication type:

Article

Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.

Published in:

2017

By:

Tomohiro Nakata;
Ryo Ishida;
Yuu Mihara;
Atsuko Fujii;
Yoshimoto Inoue;
Tetsuro Kusaba;
Tsuyoshi Isojima;
Yutaka Harita;
Chiaki Kanda;
Sachiko Kitanaka;
Keiichi Tamagaki;
Nakata, Tomohiro;
Ishida, Ryo;
Mihara, Yuu;
Fujii, Atsuko;
Inoue, Yoshimoto;
Kusaba, Tetsuro;
Isojima, Tsuyoshi;
Harita, Yutaka;
Kanda, Chiaki

Publication type:

journal article

A Dominant-Negative Mutation of Mouse <i>Lmx1b</i> Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation.

Published in:

PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004359

By:

Cross, Sally H.;
Macalinao, Danilo G.;
McKie, Lisa;
Rose, Lorraine;
Kearney, Alison L.;
Rainger, Joe;
Thaung, Caroline;
Keighren, Margaret;
Jadeja, Shalini;
West, Katrine;
Kneeland, Stephen C.;
Smith, Richard S.;
Howell, Gareth R.;
Young, Fiona;
Robertson, Morag;
van t' Hof, Rob;
John, Simon W. M.;
Jackson, Ian J.

Publication type:

Article