Works matching DE "MULTIPLE human abnormalities"

Results: 628

Jacobsen syndrome in a patient with combined immunodeficiency, thrombocytopenia, congenital heart disease and facial dysmorphism: a case report and review of literature.

Published in:

Polish Journal of Allergology / Alergologia Polska, 2025, v. 12, n. 2, p. 147, doi. 10.5114/pja.2025.151295

By:

Özdemir, Öner;
Dikici, Ümmügülsüm;
Yarar, Murat Hakkı

Publication type:

Article

Management of Seckel Syndrome with Cerebral Aneurysms: Favorable Outcomes.

Published in:

Journal of Pediatric Neurosciences, 2024, v. 19, n. 3, p. 123, doi. 10.4103/jpn.jpn_143_23

By:

Chand, Prem;
Jan, Aliyan;
Khan, Durray Shahwar A.

Publication type:

Article

PENTALOGY OF CANTRELL: A CASE REPORT.

Published in:

Health Problems of Civilization, 2025, v. 19, n. 2, p. 237, doi. 10.5114/hpc.2024.138897

By:

Płusajska, Justyna;
Świercz, Grzegorz;
Młodawski, Jakub;
Malmur, Mariusz;
Zalega, Magdalena

Publication type:

Article

Nevus Sebaceous of Jadassohn's Misdiagnosed as a Vascular Anomaly: a Pediatric Case Report.

Published in:

Indian Journal of Surgery, 2024, v. 86, n. 6, p. 1305, doi. 10.1007/s12262-024-04063-4

By:

Arredondo Montero, Javier;
Carracedo Vega, Elena;
Dolores Ayuso, Lidia;
Montes, Marta

Publication type:

Article

Infantile Inguinal Hernia with Uterus, Both Fallopian Tubes, and Both Ovaries as Contents: a Case Report.

Published in:

Indian Journal of Surgery, 2023, v. 85, n. 5, p. 1284, doi. 10.1007/s12262-023-03687-2

By:

Reddy, Chemuru Munisekhar;
Ramakrishna, H. K.

Publication type:

Article

Cerebriform Nevus Sebaceous of Jadassohn—a Rare Entity.

Published in:

Indian Journal of Surgery, 2022, v. 84, n. 3, p. 572, doi. 10.1007/s12262-021-03009-4

By:

Bhattacharya, Kaushik;
Reddy, Praveenchandra

Publication type:

Article

CLOVES Syndrome.

Published in:

Indian Journal of Surgery, 2021, v. 83, n. 6, p. 1596, doi. 10.1007/s12262-020-02692-z

By:

Al Mahruqi, Ghaitha;
Stephen, Edwin;
Selveraj, Dheepak;
Lee, Byung-Boong

Publication type:

Article

Inguinal and Scrotal Swellings in Adults Can Be Persistent Müllerian Duct Syndrome with Tumors.

Published in:

Indian Journal of Surgery, 2021, v. 83, n. 3, p. 784, doi. 10.1007/s12262-020-02328-2

By:

Demir, Hale;
Ergun, Penbe Gul;
Demirdag, Cetin;
Uygun, Nesrin

Publication type:

Article

Congenital bilateral perisylvian syndrome.

Published in:

2018

By:

Chatur, Chinky;
Balani, Ankit

Publication type:

journal article

Basal vein of Rosenthal anomaly with aplasia of the telencephalic segment and prominent lateral mesencephalic vein.

Published in:

Surgical & Radiologic Anatomy, 2025, v. 47, n. 1, p. 1, doi. 10.1007/s00276-025-03589-w

By:

Zedde, Marialuisa;
Pascarella, Rosario

Publication type:

Article

Anomalous origin of one pulmonary artery from the ascending aorta: A rare entity in congenital heart disease.

Published in:

Ümraniye Pediatri Dergisi, 2023, v. 3, n. 1, p. 34, doi. 10.14744/upd.2023.33043

By:

Şengül, Fatma Sevinç;
Arslan, Perver;
Atik, Sezen Ugan;
Ayyıldız, Pelin;
Kamalı, Hacer;
Yıldız, Okan;
Haydin, Sertaç;
Güzeltaş, Alper

Publication type:

Article

Prenatal genetic screening goes beyond trisomies.

Published in:

Medical Laboratory Observer (MLO), 2017, v. 49, n. 11, p. 30

By:

Martin, Kimberly;
McKanna, Trudy

Publication type:

Article

Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.

Published in:

JAMA Network Open, 2024, v. 7, n. 3, p. e242609, doi. 10.1001/jamanetworkopen.2024.2609

By:

Waikel, Rebekah L.;
Othman, Amna A.;
Patel, Tanviben;
Ledgister Hanchard, Suzanna;
Hu, Ping;
Tekendo-Ngongang, Cedrik;
Duong, Dat;
Solomon, Benjamin D.

Publication type:

Article

Anaesthesia recommendations for Pallister-Hall syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, n. 7/8, p. 1, doi. 10.19224/ai2022.S242

By:

Brull, Sorin J.;
Biesecker, Leslie G.

Publication type:

Article

Larsen syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. S151, doi. 10.19224/ai2022.S151

By:

Chin, Joel;
Brooke, Jenny

Publication type:

Article

Anaesthesia recommendations for Larsen syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, n. 5, p. S151

By:

Chin, Joel;
Brooke, Jenny;
Rai, Amit;
Boettner, Friedrich

Publication type:

Article

Radical Surgical Treatment of A Large Seminal Vesicle Cyst Causing Acute Urinary Retention in A Patient with Zinner Syndrome: A Case Report and Review of Literature.

Published in:

Journal of Urological Surgery, 2021, v. 8, n. 4, p. 291, doi. 10.4274/jus.galenos.2021.2021.0016

By:

Djordjevic, Dejan;
Dragicevic, Svetomir;
Vukovic, Marko

Publication type:

Article

iCan-Play: A Practice Guideline for Assessment and Intervention of Play for Children with Severe Multiple Disabilities.

Published in:

Open Journal of Occupational Therapy (OJOT), 2020, v. 8, n. 3, p. 1, doi. 10.15453/2168-6408.1696

By:

Hui, Stephanie;
Dimitropoulou, Katherine

Publication type:

Article

Lack of chromosome 15q11-q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome.

Published in:

1998

By:

Dasouki, Majed J.;
Marney, Annis;
Butler, Merlin G.;
Dasouki, M J;
Marney, A;
Butler, M G

Publication type:

commentary

Newborn Skin Maturity Medical Device Validation for Gestational Age Prediction: Clinical Trial.

Published in:

Journal of Medical Internet Research, 2022, v. 24, n. 9, p. N.PAG, doi. 10.2196/38727

By:

Reis, Zilma Silveira Nogueira;
Romanelli, Roberta Maia de Castro;
Guimarães, Rodney Nascimento;
Gaspar, Juliano de Souza;
Neves, Gabriela Silveira;
Vale, Marynea Silva do;
Nader, Paulo de Jesus;
Moura, Martha David Rocha de;
Vitral, Gabriela Luíza Nogueira;
Reis, Marconi Augusto Aguiar dos;
Pereira, Marcia Margarida Mendonça;
Marques, Patrícia Franco;
Nader, Silvana Salgado;
Harff, Augusta Luize;
Beleza, Ludmylla de Oliveira;
Castro, Maria Eduarda Canellas de;
Souza, Rayner Guilherme;
Pappa, Gisele Lobo;
Aguiar, Regina Amélia Pessoa Lopes de;
do Vale, Marynea Silva

Publication type:

Article

Outcomes of hypoplastic left heart syndrome: analysis of National Inpatient Sample Database 1998-2004 versus 2005-2014.

Published in:

2020

By:

Hamzah, Mohammed;
Othman, Hasan F.;
Baloglu, Orkun;
Aly, Hany

Publication type:

journal article

Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.

Published in:

2011

By:

Schramm, Charlotte;
Draaken, Markus;
Tewes, Gabriel;
Bartels, Enrika;
Schmiedeke, Eberhard;
Märzheuser, Stefanie;
Grasshoff-Derr, Sabine;
Hosie, Stuart;
Holland-Cunz, Stefan;
Priebe, Lutz;
Kreiß-Nachtsheim, Martina;
Hoffmann, Per;
Aretz, Stefan;
Nöthen, Markus M.;
Reutter, Heiko;
Ludwig, Michael;
Märzheuser, Stefanie;
Kreiss-Nachtsheim, Martina;
Nöthen, Markus M

Publication type:

journal article

Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria.

Published in:

2010

By:

Sukhudyan, Biayna;
Jaladyan, Varsine;
Melikyan, Gayane;
Schlump, Jan Ulrich;
Boltshauser, Eugen;
Poretti, Andrea

Publication type:

journal article

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Published in:

2010

By:

Shafeghati, Yousef;
Kahrizi, Kimia;
Najmabadi, Hossein;
Kuss, Andreas Walter;
Ropers, Hans-Hilger;
Tzschach, Andreas

Publication type:

journal article

Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome.

Published in:

2010

By:

Lima, Kari;
Følling, Ivar;
Eiklid, Kristin L.;
Natvig, Solveig;
Abrahamsen, Tore G.;
Følling, Ivar

Publication type:

journal article

Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.

Published in:

2010

By:

Inoue, Hirosuke;
Takada, Hidetoshi;
Kusuda, Takeshi;
Goto, Takako;
Ochiai, Masayuki;
Kinjo, Tadamune;
Muneuchi, Jun;
Takahata, Yasushi;
Takahashi, Naomi;
Morio, Tomohiro;
Kosaki, Kenjiro;
Hara, Toshiro

Publication type:

journal article

Array CGH defined interstitial deletion on chromosome 14: a new case.

Published in:

2010

By:

Piccione, Maria;
Antona, Vincenzo;
Scavone, Valeria;
Malacarne, Michela;
Pierluigi, Mauro;
Grasso, Marina;
Corsello, Giovanni

Publication type:

journal article

Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism.

Published in:

2010

By:

Jenderny, Jutta;
Schmidt, Winfried;
Bartsch, Oliver

Publication type:

journal article

Prolidase deficiency: it looks like systemic lupus erythematosus but it is not.

Published in:

2010

By:

Klar, Aharon;
Navon-Elkan, Paulina;
Rubinow, Alan;
Branski, David;
Hurvitz, Haggit;
Christensen, Ernst;
Khayat, Morad;
Falik-Zaccai, Tzipora C.

Publication type:

journal article

Spectrum of congenital heart defects in Croatia.

Published in:

2010

By:

Dilber, Daniel;
Malčić, Ivan;
Malcić, Ivan

Publication type:

journal article

Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.

Published in:

2010

By:

Pavone, Piero;
Ruggieri, Martino;
Lombardo, Ilaria;
Sudi, Jyotsna;
Biancheri, Roberta;
Castellano-Chiodo, Danilo;
Rossi, Andrea;
Incorpora, Gemma;
Nowak, Norma J.;
Christian, Susan L.;
Pavone, Lorenzo;
Dobyns, William B.

Publication type:

journal article

Ochoa syndrome: a spectrum of urofacial syndrome.

Published in:

2010

By:

Aydogdu, Ozgu;
Burgu, Berk;
Demirel, Fuat;
Soygur, Tarkan;
Ozcakar, Zeynep Birsin;
Yalcınkaya, Fatos;
Tekgul, Serdar;
Yalcinkaya, Fatos

Publication type:

journal article

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

Published in:

2010

By:

Ferrero, Giovanni Battista;
Baldassarre, Giuseppina;
Panza, Emanuele;
Valenzise, Mariella;
Pippucci, Tommaso;
Mussa, Alessandro;
Pepe, Ernesto;
Seri, Marco;
Silengo, Margherita Cirillo

Publication type:

journal article

Prognosis of pentalogy of Cantrell depends mainly on the severity of the intracardiac anomalies and associated malformations.

Published in:

2009

By:

Zhan Gao;
Qun-Jun Duan;
Ze-Wei Zhang;
Jian-Hua Li;
Liang-Long Ma;
Li-Yang Ying;
Gao, Zhan;
Duan, Qun-Jun;
Zhang, Ze-Wei;
Li, Jian-Hua;
Ma, Liang-Long;
Ying, Li-Yang

Publication type:

commentary

Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.

Published in:

2009

By:

Morais, Paulo;
Magina, Sofia;
Ribeiro, Maria do Céu;
Rodrigues, Manuela;
Lopes, José Manuel;
Huong Le Thi Thanh;
Wehnert, Manfred;
Guimarães, Hercília;
Ribeiro, Maria do Céu;
Lopes, José Manuel;
Thanh, Huong Le Thi;
Guimarães, Hercília

Publication type:

journal article

Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: a previously unreported association.

Published in:

2009

By:

Tufano, Maria;
Della Corte, Claudia;
Cirillo, Francesco;
Spagnuolo, Maria Immacolata;
Candusso, Manila;
Melis, Daniela;
Torre, Giuliano;
Iorio, Raffaele

Publication type:

journal 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

Oculocutaneous albinism accompanied by minor morphologic stigmata.

Published in:

2008

By:

Castro-Gago, Manuel

Publication type:

commentary

Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery.

Published in:

2008

By:

Ziolkowska, Lidia;
Kawalec, Wanda;
Turska-Kmiec, Anna;
Krajewska-Walasek, Malgorzata;
Brzezinska-Rajszys, Grazyna;
Daszkowska, Jadwiga;
Maruszewski, Bogdan;
Burczynski, Piotr

Publication type:

journal article

An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.

Published in:

2008

By:

Koç, Altuğ;
Kan, Derya;
Karaer, Kadri;
Ergün, Mehmet A.;
Karaoğuz, Meral Yirmibeş;
Gücüyener, Kıvılcım;
Hinreiner, Sophie;
Liehr, Thomas;
Perçin, E. Ferda;
Koç, Altuğ;
Ergün, Mehmet A;
Karaoğuz, Meral Yirmibeş;
Gücüyener, Kivilcim;
Perçin, E Ferda

Publication type:

journal article

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature.

Published in:

2008

By:

Joss, Shelagh;
Ghazawy, Sam;
Tomkins, Susan;
Ahmed, Mushtaq;
Bradbury, John;
Sheridan, Eamonn;
Joss, Shelagh K

Publication type:

journal article

Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature.

Published in:

2008

By:

Schell-Apacik, Chayim Can;
Cohen, Monika;
Vojta, Stepan;
Ertl-Wagner, Birgit;
Klopocki, Eva;
Heinrich, Uwe;
Von Voss, Hubertus

Publication type:

journal article

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

Published in:

2007

By:

De Ravel, Thomy J. L.;
Devriendt, Koen;
Fryns, Jean-Pierre;
Vermeesch, Joris R.

Publication type:

journal article

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.

Published in:

2007

By:

Garnier, Arnaud;
Dauger, Stéphane;
Eurin, Danièle;
Parisi, Ida;
Parenti, Giancarlo;
Garel, Catherine;
Delbecque, Katy;
Baumann, Clarisse;
Dauger, Stéphane;
Eurin, Danièle

Publication type:

journal article

An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.

Published in:

2005

By:

Lehmann, Katarina;
Mundlos, Stefan;
Meinecke, Peter

Publication type:

journal article

Presenting phenotype in 100 children with the 22q11 deletion syndrome.

Published in:

2005

By:

Oskarsdóttir, Sólveig;
Persson, Christina;
Eriksson, Bengt O;
Fasth, Anders

Publication type:

journal article

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.

Published in:

2005

By:

Willemsen, Michel A. A. P.;
Breedveld, Guido J.;
Wouda, Siep;
Otten, Barto J.;
Yntema, Jan L.;
Lammens, Martin;
De Vries, Bert B. A.

Publication type:

journal article

Further delineation of El-Shanti syndrome.

Published in:

2004

By:

El-Shanti, Hatem

Publication type:

Case Study

The nature of naevus flammeus.

Published in:

2003

By:

Leung, Alexander K.C.

Publication type:

commentary

Haematuria, transient proteinuria, serpiginous-border skin rash, and cardiomegaly in a 10-year-old girl. Diagnosis: Acute post-streptococcal glomerulonephritis associated with acute rheumatic pericarditis.

Published in:

2003

By:

Lin, Wei-Jen;
Lo, Wen-Tsung;
Ou, Tien-Yuan;
Wang, Chih-Chien

Publication type:

journal article