Works matching DE "POTTER'S syndrome"

Results: 200

Agenesis of gallbladder — our experience and a review of literature.

Published in:

Indian Journal of Surgery, 2009, v. 71, n. 4, p. 188, doi. 10.1007/s12262-009-0066-8

By:

Chowbey, P. K.;
Dey, A.;
Khullar, R.;
Sharma, A.;
Soni, V.;
Baijal, M.;
Mittal, T.

Publication type:

Article

Prevalence of the palmaris longus through clinical evaluation.

Published in:

Surgical & Radiologic Anatomy, 2010, v. 32, n. 4, p. 357, doi. 10.1007/s00276-009-0573-0

By:

Erić, Mirela;
Krivokuća, Dragan;
Savović, Slobodan;
Lekšan, Igor;
Vučinić, Nikola

Publication type:

Article

Adrenal gland hypertrophy in a case of homolateral renal agenesis: case report with special emphasis on adrenal blood supply.

Published in:

Surgical & Radiologic Anatomy, 2009, v. 31, n. 6, p. 471, doi. 10.1007/s00276-008-0453-z

By:

Peltier, Johann;
Demondion, Xavier;
Baroncini, Marc;
Wavreille, Guillaume;
Fontaine, Christian;
Drizencko, Antoine;
Mauroy, Brigitte;
Le Gars, Daniel;
Francke, Jean-Paul

Publication type:

Article

A further case of renal tubular dysgenesis surviving the neonatal period.

Published in:

2009

By:

Uematsu, Mitsugu;
Sakamoto, Osamu;
Ohura, Toshihiro;
Shimizu, Nobuhiko;
Satomura, Kenichi;
Tsuchiya, Shigeru

Publication type:

journal article

Abnormal urethra formation in mouse models of Split-hand/split-foot malformation type 1 and type 4.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 36, doi. 10.1038/sj.ejhg.5201925

By:

Suzuki, Kentaro;
Haraguchi, Ryuma;
Ogata, Tsutomu;
Barbieri, Ottavia;
Alegria, Olinda;
Vieux-Rochas, Maxence;
Nakagata, Naomi;
Ito, Masataka;
Mills, Alea A.;
Kurita, Takeshi;
Levi, Giovanni;
Yamada, Gen

Publication type:

Article

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 971, doi. 10.1038/sj.ejhg.5201635

By:

Titomanlio, Luigi;
Giurgea, Irina;
Baumann, Clarisse;
Elmaleh, Monique;
Sachs, Philippe;
Chalard, François;
Aboura, Azzedine;
Verloes, Alain

Publication type:

Article

A Cognitive Behavioural Model and Therapy for Utero-Vaginal Agenesis (Mayer-Rokitansky-Küster-Hauser Syndrome: MRKH).

Published in:

Behavioural & Cognitive Psychotherapy, 2009, v. 37, n. 4, p. 449, doi. 10.1017/S1352465809990051

By:

Heller-Boersma, Jacoline G.;
Edmonds, D. Keith;
Schmidt, Ulrike H.

Publication type:

Article

Agenesia vesicular y colangitis, una asociación infrecuente: reporte de caso.

Published in:

Cirugía y Cirujanos, 2021, v. 89, p. 64, doi. 10.24875/CIRU.21000244

By:

González-Covarrubias, Agustín;
Pineda-Tapia, Irais P.;
Becerril-Hernández, José D.;
Gil-Vargas, Manuel

Publication type:

Article

Bladder Agenesis Associated with Crossed Fused Renal Ectopia and Vertebral Anomalies: A Rare Entity.

Published in:

2016

By:

Lalfakzuala Sailo, Stephen;
Sailo, Laltanpuii

Publication type:

Case Study

Acute Infection of a Documented Seminal Vesicle Cyst via Hematogenous Seeding.

Published in:

2013

By:

Palmer, William C.;
Patel, Neal C.;
Renew, Johnathan R.;
Bridges, Mellena D.;
Stancampiano, Fernando F.

Publication type:

Case Study

OHVIRA: Uterus didelphys, blind hemivagina and ipsilateral renal agenesis: Advantage MRI.

Published in:

Journal of Human Reproductive Sciences, 2012, v. 5, n. 1, p. 67, doi. 10.4103/0974-1208.97811

By:

Bajaj, Sunil K.;
Misra, Ritu;
Thukral, Brij B.;
Gupta, Rohini

Publication type:

Article

Uterus didelphys with unilateral obstructed hemivagina with hematometrocolpos and hematosalpinx with ipsilateral renal agenesis.

Published in:

Journal of Human Reproductive Sciences, 2009, v. 2, n. 2, p. 87, doi. 10.4103/0974-1208.57230

By:

Jindal, Gaurav;
Kachhawa, Satish;
Meena, G. L.;
Dhakar, Gopal

Publication type:

Article

Right lung agenesis.

Published in:

African Journal of Paediatric Surgery, 2008, v. 5, n. 2, p. 102, doi. 10.4103/0189-6725.44189

By:

Kumar, B.;
Kandpal, D. K.;
Sharma, C.;
Sinha, D. D.

Publication type:

Article

Congenital urethral hypoplasia with urethral fistula without imperforate anus: Report of two cases.

Published in:

African Journal of Paediatric Surgery, 2008, v. 5, n. 1, p. 37, doi. 10.4103/0189-6725.41635

By:

Kumar, Basant;
Sharma, Shyam B.;
Agrawal, Leela D.

Publication type:

Article

MINIMALLY INVASIVE MANAGEMENT OF ZINNER'S SYNDROME.

Published in:

Medicina (Buenos Aires), 2021, v. 81, n. 6, p. 1073

By:

RICO, LUIS;
VITAGLIANO, GONZALO;
AMERI, CARLOS;
BLAS, LEANDRO;
MANUEL BUJALDON, JUAN

Publication type:

Article

Complete unilateral leg duplication with ipsilateral renal agenesis.

Published in:

Acta Paediatrica, 2007, v. 96, n. 3, p. 464, doi. 10.1111/j.1651-2227.2007.00127.x

By:

Lilje, Christian;
Finger, Leron J.;
Ascuitto, Robert J.

Publication type:

Article

POTTER SYNDROME, A RARE ENTITY WITH HIGH RECURRENCE RISK IN WOMEN WITH RENAL MALFORMATIONS - CASE REPORT AND A REVIEW OF THE LITERATURE.

Published in:

2017

By:

Rolea, George;
Marginean, Claudiu;
Sasaran, Vladut Stefan;
Marginean, Cristian Dan;
Melit, Lorena Elena

Publication type:

Case Study

Zinner syndrome - a case study of a rare triad of abnormalities in an adolescent patient.

Published in:

2019

By:

NOCUŃ-WASILEWSKA, Karolina;
ZWOLIŃSKA, Danuta;
KILIŚ-PSTRUSIŃSKA, Katarzyna;
SZEWCZYK, Paweł;
POLAK-JONKISZ, Dorota

Publication type:

Case Study

5-YEAR OLD MALE WITH AN INTERHEMISPHERIC FRONTAL MASS.

Published in:

2009

By:

Bertolino, Laura Aón;
Lépore, Pía;
Carassai, Mónica;
González, Roberto;
Sevlever, Gustavo;
Riudavets, Miguel A.

Publication type:

Letter

ATRESIA OF THE GALLBLADDER.

Published in:

American Journal of Gastroenterology (Springer Nature), 1961, v. 36, n. 1, p. 78

By:

Bair, Robert C.;
Miller, Joseph M.

Publication type:

Article

Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.

Published in:

Nature Genetics, 2003, v. 34, n. 2, p. 209, doi. 10.1038/ng1168

By:

Vrontou, Sophia;
Petrou, Petros;
Meyer, Barbara I;
Galanopoulos, Vassilis K;
Imai, Kenji;
Yanagi, Masayuki;
Chowdhury, Kamal;
Scambler, Peter J;
Chalepakis, Georges

Publication type:

Article

Kabuki make-up syndrome with unilateral renal agenesis.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 3, p. 298

By:

Rosti, Rasim Özgür;
Kayserili, Hülya

Publication type:

Article

The Prevalence of Agenesis of Palmaris Longus Muscle amongst Students in Two Lagos-Based Medical Schools.

Published in:

International Journal of Morphology, 2010, v. 28, n. 3, p. 849, doi. 10.4067/S0717-95022010000300029

By:

Enye, L. A.;
Saalu, L. C.;
Osinubi, A. A.

Publication type:

Article

Agenesia del Tercer Molar en una Etnia Originaria del Norte de Chile: Aymaras.

Published in:

International Journal of Morphology, 2009, v. 27, n. 1, p. 151

By:

García-Hernández, Fernando;
Varas, Víctor Javier Beltrán

Publication type:

Article

Agenesia del Tercer Molar en una Etnia Originaria del Norte de Chile: Atacameños o Lican Antai.

Published in:

International Journal of Morphology, 2008, v. 26, n. 3, p. 583

By:

García-Hernández, Fernando;
,1Beltrán Varas, Víctor Javier

Publication type:

Article

Aphallia, Lung Agenesis and Multiple Defects of Blastogenesis.

Published in:

Fetal & Pediatric Pathology, 2011, v. 30, n. 1, p. 22, doi. 10.3109/15513815.2010.494698

By:

Gérard-Blanluet, Marion;
Lambert, Véronique;
Khung-Savatovsky, Suonavy;
Perrin-Sabourin, Laurence;
Passemard, Sandrine;
Baumann, Clarisse;
Delezoide, Anne-Lise;
Verloes, Alain

Publication type:

Article

CAUDAL DYSPLASIA SYNDROME AND SIRENOMELIA: ARE THEY PART OF A SPECTRUM?

Published in:

Fetal & Pediatric Pathology, 2009, v. 28, n. 3, p. 109, doi. 10.1080/15513810902772383

By:

Bruce, Jocelyn H.;
Romaguera, Rita L.;
Rodriguez, Maria M.;
González-Quintero, Víctor H.;
Azouz, E. Michel

Publication type:

Article

UMBILICAL CORD LENGTH IN URINARY TRACT ABNORMALITIES ASSOCIATED WITH OLIGOHYDRAMNIOS: EVIDENCE REGARDING DEVELOPMENTAL PATHOGENESIS.

Published in:

Fetal & Pediatric Pathology, 2006, v. 25, n. 5, p. 233, doi. 10.1080/15513810601123326

By:

Izumi, Kosuke;
Jones, Kenneth Lyons;
Kosaki, Kenjiro;
Benirschke, Kurt

Publication type:

Article

DEVELOPMENTAL RENAL PATHOLOGY: ITS PAST, PRESENT, AND FUTURE.

Published in:

Fetal & Pediatric Pathology, 2004, v. 23, n. 4, p. 211, doi. 10.1080/15227950490923453

By:

Rodriguez, Maria M.

Publication type:

Article

Potter's syndrome -- a fatal constellation of anomalies.

Published in:

2014

By:

Manoj, M. G.;
Kakkar, S.

Publication type:

Image

Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00119-5

By:

Ikeda, Shoko;
Akamatsu, Chika;
Ijuin, Akifumi;
Nagashima, Ami;
Sasaki, Megumi;
Mochizuki, Akihiko;
Nagase, Hiromi;
Enomoto, Yumi;
Kuroda, Yukiko;
Kurosawa, Kenji;
Ishikawa, Hiroshi

Publication type:

Article

Gonadal agenesis with hypoplastic paramesonephric ducts (PMNDs) derivatives in dizygotic twins.

Published in:

Gynecological Endocrinology, 2016, v. 32, n. 10, p. 792, doi. 10.1080/09513590.2016.1197199

By:

Miolo, Gianmaria;
Del Pup, Lino;
Ash, Anthony;
Manno, Massimo;
Pivetta, Barbara;
Tessitori, Giovanni;
Corona, Giuseppe

Publication type:

Article

An unusual mullerian duct anomaly : A case report.

Published in:

Pravara Medical Review, 2012, v. 4, n. 2, p. 20

By:

D. Shrirame;
F. T. Behera;
P. K. Baviskar;
S. G. Gandage

Publication type:

Article

REEDUCAREA PSIHOMOTRICĂ LA COPILUL CU AGENEZIE DE CORP CALOS (Studiu de caz).

Published in:

2011

By:

Manuela Mirela, Zărnica I.

Publication type:

Case Study

Pelvic cystic mass and ipsilateral renal agenesis detected by ultrasound in a young girl: early onset of Herlyn-Werner-Wunderlich Syndrome.

Published in:

2016

By:

Fernández-Ibieta, María;
Hernández-Anselmi, Esperanza;
Fernández-Córdoba, María Soledad;
Hernández-Anselmi, Esperanza Banu

Publication type:

Case Study

Mayer-Rokitansky-Küster-Hauser Syndrome with Alopecia: A Rare Case Report with Review of Literature.

Published in:

2016

By:

Choudhary, Sanjiv V.;
Choudhari, Uday V.

Publication type:

Case Study

Genetic Etiology of Renal Agenesis: Fine Mapping of Renag1 and Identification of Kit as the Candidate Functional Gene.

Published in:

PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0118147

By:

Samanas, Nyssa Becker;
Commers, Tessa W.;
Dennison, Kirsten L.;
Harenda, Quincy Eckert;
Kurz, Scott G.;
Lachel, Cynthia M.;
Wavrin, Kristen Leland;
Bowler, Michael;
Nijman, Isaac J.;
Guryev, Victor;
Cuppen, Edwin;
Hubner, Norbert;
Sullivan, Ruth;
Vezina, Chad M.;
Shull, James D.

Publication type:

Article

Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities.

Published in:

PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0051533

By:

Shih-Kai Wang;
Hui-Chen Chan;
Makovey, Igor;
Simmer, James P.;
Hu, Jan C-C.

Publication type:

Article

Genetic Analysis Reveals an Unexpected Role of BMP7 in Initiation of Ureteric Bud Outgrowth in Mouse Embryos.

Published in:

PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0019370

By:

Gonçalves, Alexandre;
Zeller, Rolf

Publication type:

Article

Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations.

Published in:

PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012375

By:

Harewood, Louise;
Liu, Monica;
Keeling, Jean;
Howatson, Alan;
Whiteford, Margo;
Branney, Peter;
Evans, Margaret;
Fantes, Judy;
FitzPatrick, David R.

Publication type:

Article

Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies.

Published in:

PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005232

By:

Bin Zhang;
Jufang Chang;
Ming Fu;
Jie Huang;
Kashyap, Rakesh;
Salavaggione, Ezequiel;
Jain, Sanjay;
Shashikant, Kulkarni;
Deardorff, Matthew A.;
Uzielli, Maria L. Giovannucci;
Dorsett, Dale;
Beebe, David C.;
Jay, Patrick Y.;
Heuckeroth, Robert O.;
Krantz, Ian;
Milbrandt, Jeffrey

Publication type:

Article

Pneumopericardium in a Preterm Infant with Marked Pulmonary Hypoplasia.

Published in:

Deutsches Ärzteblatt International, 2022, v. 119, n. 15, p. 276, doi. 10.3238/arztebl.m2022.0020

By:

Tomuschat, Christian;
Jürgens, Julian;
Deindl, Philipp

Publication type:

Article

Multiple Eph Receptors and B-Class Ephrins Regulate Midline Crossing of Corpus Callosum Fibers in the Developing Mouse Forebrain.

Published in:

Journal of Neuroscience, 2006, v. 26, n. 3, p. 882, doi. 10.1523/JNEUROSCI.3162-05.2006

By:

Mendes, Shannon W.;
Henkemeyer, Mark;
Liebl, Daniel J.

Publication type:

Article

Lower extremity bone mineral density in children with congenital spinal dysfunction.

Published in:

Developmental Medicine & Child Neurology, 2012, v. 54, n. 12, p. 1133, doi. 10.1111/j.1469-8749.2012.04420.x

By:

HAAS, ROCHELLE E;
KECSKEMETHY, HEIDI H;
LOPICCOLO, MARIA A;
HOSSAIN, JOBAYER;
DY, ROCHELLE T;
BACHRACH, STEVEN J

Publication type:

Article

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.

Published in:

Developmental Medicine & Child Neurology, 2012, v. 54, n. 8, p. 765, doi. 10.1111/j.1469-8749.2012.04316.x

By:

ROMANIELLO, ROMINA;
TONELLI, ALESSANDRA;
ARRIGONI, FILIPPO;
BASCHIROTTO, CINZIA;
TRIULZI, FABIO;
BRESOLIN, NEREO;
BASSI, MARIA TERESA;
BORGATTI, RENATO

Publication type:

Article

Spontaneous periodic hypothermia and hyperhidrosis: a possibly novel cerebral neurotransmitter disorder.

Published in:

Developmental Medicine & Child Neurology, 2011, v. 53, n. 4, p. 378, doi. 10.1111/j.1469-8749.2010.03854.x

By:

MASRUHA, MARCELO RODRIGUES;
LIN, JAIME;
ARITA, JULIANA HARUMI;
NETO, EDUARDO FERREIRA DE CASTRO;
SCERNI, DÉBORA AMADO;
CAVALHEIRO, ESPER ABRÃO;
MAZZACORATTI, MARIA DA GRAÇ NAFFAH;
VILANOVA, LUIZ CELSO PEREIRA

Publication type:

Article

Multiple Congenital Birth Defects in a Full-Term Infant.

Published in:

Archives of Pathology & Laboratory Medicine, 2004, v. 128, n. 4, p. 73, doi. 10.5858/2004-128-e73-pqcmcb

By:

He, Rui;
Harrison, Kathleen;
Malloy, Colleen;
McClatchey, Kenneth D.

Publication type:

Article

47,XXY With Associated Bilateral Renal Agenesis.

Published in:

Archives of Pathology & Laboratory Medicine, 2004, v. 128, n. 3, p. 44, doi. 10.5858/2004-128-e44-xwabra

By:

Barroeta, Julieta E.;
Stopyra, Gary A.

Publication type:

Article

Benign Cystic Mesothelioma Associated with Ipsilateral Renal Agenesis: A Case Report and Review of Literature.

Published in:

2014

By:

MURRO, DIANA;
HARBHAJANKA, APARNA;
MAHON, BRETT;
DEZIEL, DANIEL

Publication type:

Case Study

Possible Role of WT1 in a Human Fetus with Evolving Bronchial Atresia, Pulmonary Malformation and Renal Agenesis.

Published in:

Pediatric & Developmental Pathology, 2012, v. 15, n. 1, p. 39, doi. 10.2350/11-03-0997-OA.1

By:

Loo, Christine K. C.;
Algar, Elizabeth M.;
Payton, Diane J.;
Perry-Keene, Joanna;
Pereira, Tamara N.;
Ramm, Grant A.

Publication type:

Article