Works matching DE "MULTIPLE human abnormalities"

Results: 622

A Rare Neck Lesion in Children: Bilateral Chondrocutaneous Branchial Remnant.

Published in:

International Journal of Surgical Pathology, 2025, v. 33, n. 4, p. 951, doi. 10.1177/10668969241291898

By:

Tığlı, Tunç;
Orhan, Diclehan;
Soyer, Tutku

Publication type:

Article

Report on Witteveen-Kolk syndrome caused by large fragment deletion in the 15q24.1 - q24.2 region in infants with early onset and literature review.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-01971-3

By:

Tang, Hanlin;
Xu, Jiaxuan;
Ge, Ling;
Gao, Qunting;
Tan, Xinlu;
Qiao, Qicheng;
Liu, Ruihan;
Kong, Qingxia;
Li, Qiubo;
Jiang, Xiufang

Publication type:

Article

Continence management in children with severe caudal regression syndrome: role of multidisciplinary team and long-term follow-up.

Published in:

2022

By:

Esposito, Giacomo;
Totonelli, Giorgia;
Iacobelli, Barbara Daniela;
Longo, Daniela;
Caldaro, Tamara;
Blasetti, Giulia;
Bevilacqua, Francesca;
Santato, Francesca;
Lucignani, Giulia;
Sollini, Maria Laura;
Marras, Carlo Efisio;
Bagolan, Pietro;
Mosiello, Giovanni

Publication type:

journal article

A new approach using image analysis to assess pulmonary hypoplasia in the fetal lamb diaphragmatic hernia model.

Published in:

2019

By:

Kawaguchi, Takuya;
Kawaguchi, Kohei;
Obayashi, Juma;
Tanaka, Kunihide;
Ohyama, Kei;
Seki, Yasuji;
Nagae, Hideki;
Furuta, Shigeyuki;
Pringle, Kevin C.;
Kitagawa, Hiroaki

Publication type:

journal article

Repair of type IV laryngotracheoesophageal cleft (LTEC) on ECMO.

Published in:

2019

By:

Kawahara, Insu;
Maeda, Kosaku;
Samejima, Yoshitomo;
Kajihara, Keisuke;
Uemura, Kotaro;
Nomura, Kozo;
Isono, Kaori;
Morita, Keiichi;
Fukuzawa, Hiroaki;
Nakao, Makoto;
Yokoi, Akiko

Publication type:

journal article

The multi-disciplinary management of complex congenital and acquired tracheo-oesophageal fistulae.

Published in:

2019

By:

Thakkar, H. S.;
Hewitt, R.;
Cross, K.;
Hannon, E.;
De Bie, F.;
Blackburn, S.;
Eaton, S.;
McLaren, C. A.;
Roebuck, D. J.;
Elliott, M. J.;
Curry, J. I.;
Muthialu, N.;
De Coppi, P.

Publication type:

journal article

Endoplasmic reticulum stress response is activated in pulmonary hypoplasia secondary to congenital diaphragmatic hernia, but is decreased by administration of amniotic fluid stem cells.

Published in:

2018

By:

Tzanetakis, Areti;
Antounians, Lina;
Belfiore, Alyssa;
Ma, Qi;
Stasiewicz, Mark;
Pellerito, Ornella;
Zani, Augusto

Publication type:

journal article

Assessment of the nitrofen model of congenital diaphragmatic hernia and of the dysregulated factors involved in pulmonary hypoplasia.

Published in:

2018

By:

Montalva, Louise;
Zani, Augusto

Publication type:

journal article

New prognostic classification and managements in infants with esophageal atresia.

Published in:

2018

By:

Yamoto, Masaya;
Nomura, Akiyoshi;
Fukumoto, Koji;
Takahashi, Toshiaki;
Nakaya, Kengo;
Sekioka, Akinori;
Yamada, Yutaka;
Urushihara, Naoto

Publication type:

journal article

Response to pulmonary vasodilators in infants with congenital diaphragmatic hernia.

Published in:

2018

By:

Kumar, Vasantha H. S.;
Dadiz, Rita;
Koumoundouros, Jamie;
Guilford, Stephanie;
Lakshminrusimha, Satyan

Publication type:

journal article

A review of genetic factors contributing to the etiopathogenesis of anorectal malformations.

Published in:

2017

By:

Khanna, Kashish;
Sharma, Shilpa;
Pabalan, Noel;
Singh, Neetu;
Gupta, D K

Publication type:

journal article

Anorectal malformations, associated congenital anomalies and their investigation in a South African setting.

Published in:

2017

By:

Merwe, Elmarie;
Cox, S.;
Numanoglu, A.;
Vd Merwe, Elmarie

Publication type:

journal article

Expression of T-box transcription factors 2, 4 and 5 is decreased in the branching airway mesenchyme of nitrofen-induced hypoplastic lungs.

Published in:

2017

By:

Takahashi, Toshiaki;
Friedmacher, Florian;
Zimmer, Julia;
Puri, Prem

Publication type:

journal article

Anorectal malformations associated spinal cord anomalies.

Published in:

2016

By:

Totonelli, Giorgia;
Morini, Francesco;
Catania, Vincenzo;
Schingo, Paolo;
Mosiello, Giovanni;
Palma, Paolo;
Iacobelli, Barbara;
Bagolan, Pietro;
Catania, Vincenzo Davide;
Schingo, Paolo Maria;
Iacobelli, Barbara Daniela

Publication type:

journal article

Prenatal counseling for cloaca and cloacal exstrophy-challenges faced by pediatric surgeons.

Published in:

2012

By:

Bischoff A;
Calvo-Garcia MA;
Baregamian N;
Levitt MA;
Lim FY;
Hall J;
Peña A;
Bischoff, Andrea;
Calvo-Garcia, Maria A;
Baregamian, Naira;
Levitt, Marc A;
Lim, Foong-Yen;
Hall, Jennifer;
Peña, Alberto

Publication type:

journal article

Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome.

Published in:

2011

By:

Gosemann, Jan-Hendrik;
Puri, Prem

Publication type:

journal article

Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia.

Published in:

2011

By:

Aboud, Mohammed;
Al-Shamsy, Mohammed;
Aboud, Mohammed Joudi;
Al-Shamsy, Mohammed Mojar

Publication type:

journal article

Hirschsprung's disease: what about mortality?

Published in:

2011

By:

Pini Prato, Alessio;
Rossi, Valentina;
Avanzini, Stefano;
Mattioli, Girolamo;
Disma, Nicola;
Jasonni, Vincenzo

Publication type:

journal article

Comparative outcomes in intestinal atresia: a clinical outcome and pathophysiology analysis.

Published in:

2011

By:

Burjonrappa, Sathyaprasad;
Crete, Elise;
Bouchard, Sarah

Publication type:

journal article

Review of the evidence on the closure of abdominal wall defects.

Published in:

2011

By:

Mortellaro, Vincent;
Peter, Shawn;
Fike, Frankie;
Islam, Saleem;
Mortellaro, Vincent E;
St Peter, Shawn D;
Fike, Frankie B

Publication type:

journal article

Abdominal compartment syndrome in childhood: diagnostics, therapy and survival rate.

Published in:

2011

By:

Steinau, Gerhard;
Kaussen, Torsten;
Bolten, Beate;
Schachtrupp, Alexander;
Neumann, Ulf;
Conze, Joachim;
Boehm, Gabriele;
Neumann, Ulf P

Publication type:

journal article

Comment on Turowski et al.: Delayed diagnosis of imperforate anus: an unacceptable morbidity.

Published in:

2011

By:

Wilson, Brooke;
Holland, Andrew;
Wilson, Brooke E;
Holland, Andrew J A

Publication type:

commentary

Clinical risk factors for gastroschisis and omphalocele in humans: a review of the literature.

Published in:

2010

By:

Frolov, Polina;
Alali, Jasem;
Klein, Michael;
Klein, Michael D

Publication type:

journal article

Delayed diagnosis of imperforate anus: an unacceptable morbidity.

Published in:

2010

By:

Turowski, Carmen;
Dingemann, Jens;
Gillick, John

Publication type:

journal article

Prenatal diagnosis of cloacal malformations.

Published in:

2010

By:

Bischoff, Andrea;
Levitt, Marc A.;
Foong Yen Lim;
Guimarães, Carolina;
Peña, Alberto;
Lim, Foong Yen;
Guimarães, Carolina;
Peña, Alberto

Publication type:

journal article

Repair of cleft lip and simultaneous repair of cleft hard palate with vomer flap in unilateral complete cleft lip and palate: a comparative study.

Published in:

2010

By:

Ferdous, Kazi Md. Noor-ul;
Salek, A. J. M.;
Islam, M. Kabirul;
Das, Bijiy Krishna;
Khan, A. R.;
Karim, Md. Shahid

Publication type:

journal article

Long-term functional outcomes in children with Currarino syndrome.

Published in:

2010

By:

Yoshida, Atsushi;
Maoate, Kiki;
Blakelock, Russell;
Robertson, Stephen;
Beasley, Spencer

Publication type:

journal article

Nephrectomy for multicystic dysplastic kidney and renal hypodysplasia in children: where do we stand?

Published in:

2010

By:

Mattioli, Girolamo;
Pini-Prato, Alessio;
Costanzo, Sara;
Avanzini, Stefano;
Rossi, Valentina;
Basile, Angela;
Ghiggeri, Gian Marco;
Magnasco, Alberto;
Leggio, Samuele;
Rapuzzi, Giovanni;
Jasonni, Vincenzo

Publication type:

journal article

Detection of malignant right coronary artery anomaly by multi-slice CT coronary angiography.

Published in:

2002

By:

Dirksen, M. S.;
Bax, J. J.;
Blom, N. A.;
Schalij, M. J.;
Jukema, W. J.;
Vliegen, H. W.;
van der Wall, E. E.;
de Roos, A.;
Lamb, H. J.

Publication type:

journal article

Extreme fenestration of the basilar artery associated with cleft palate, nasopharyngeal mature teratoma, and hypophyseal duplication.

Published in:

2002

By:

Uchino, A.;
Sawada, A.;
Takase, Y.;
Fujita, I.;
Kudo, S.

Publication type:

journal article

Prospective follow-up study of 55 children born after subzonal insemination and intracytoplasmic sperm injection.

Published in:

1994

By:

Bonduelle, M;
Desmyttere, S;
Buysse, A;
Van Assche, E;
Schietecatte, J;
Devroey, P;
Van Steirteghem, A C;
Liebaers, I

Publication type:

journal article

Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.

Published in:

Turkish Archives of Pediatrics, 2025, v. 60, n. 1, p. 48, doi. 10.5152/TurkArchPediatr.2025.24172

By:

Gungoren, Ezgi Yalcin;
Meric, Zeynep;
Sefer, Asena Pinar;
Ozkan, Asuman Deveci;
Can, Salim;
Babayeva, Royala;
Kasap, Nurhan;
Nain, Ercan;
Yucel, Esra Ozek;
Kiykim, Ayca;
Bilgic-Eltan, Sevgi;
Yucelten, Ayse Deniz;
Karakoc-Aydiner, Elif;
Ozen, Ahmet;
Baris, Safa

Publication type:

Article

Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond–Blackfan Anemia May Be Overlooked.

Published in:

Turkish Archives of Pediatrics, 2024, v. 59, n. 4, p. 364, doi. 10.5152/TurkArchPediatr.2024.23193

By:

Soltanova, Gulare;
Oral, Nihan Avcu;
Gümrük, Fatma;
Şimşek Kiper, Pelin Özlem;
Ünal, Şule

Publication type:

Article

Updates From the Literature, May/June 2017.

Published in:

Journal of Midwifery & Women's Health, 2017, v. 62, n. 3, p. 368, doi. 10.1111/jmwh.12632

By:

Bond, Sharon

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

Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation.

Published in:

BioMed Research International, 2019, p. 1, doi. 10.1155/2019/9352581

By:

Hu, Ting;
Zhang, Zhu;
Wang, Jiamin;
Li, Qinqin;
Zhu, Hongmei;
Lai, Yi;
Wang, He;
Liu, Shanling

Publication type:

Article

New intrauterine shunt for treatment of fetal fluid accumulation: single-center experience of first 17 cases.

Published in:

2019

By:

Nørgaard, L. N.;
Søgaard, K.;
Jensen, L. N.;
Ekelund, C.;
Kahrs, B. H.;
Tabor, A.;
Sundberg, K.

Publication type:

Letter

Fetal exome sequencing: yield and limitations in a tertiary referral center.

Published in:

2019

By:

Daum, H.;
Meiner, V.;
Elpeleg, O.;
Harel, T.;
Bar‐Or, Libat;
Eilat, Avital;
Fahham, Duha;
Gur, Michal;
Hacohen, Nuphar;
Kimchi, Adva;
Macarov, Michal;
Porat, Shay;
Rosenak, Daniel;
Shaag, Avraham;
Shkedi‐Rafid, Shiri;
Szmulewicz, Adi;
Yagel, Simcha;
Yanai, Nili;
Zvi, Naama;
Banne, Ehud

Publication type:

journal article

Progressive lesions of central nervous system in microcephalic fetuses with suspected congenital Zika virus syndrome.

Published in:

2017

By:

Sarno, M.;
Aquino, M.;
Pimentel, K.;
Cabral, R.;
Costa, G.;
Bastos, F.;
Brites, C.

Publication type:

journal article

Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities.

Published in:

2017

By:

Syngelaki, A.;
Guerra, L.;
Ceccacci, I.;
Efeturk, T.;
Nicolaides, K. H.

Publication type:

journal article

Detection of 22q11.2 microduplication by cell-free DNA screening and chromosomal microarray in fetus with multiple anomalies.

Published in:

2016

By:

Wu, W.‐J.;
Ma, G.‐C.;
Lin, Y.‐S.;
Yeang, C.‐H.;
Ni, Y.‐H.;
Li, W.‐C.;
Tsai, H.‐D.;
Shur‐Fen Gau, S.;
Chen, M.

Publication type:

Case Study

Correlation between prenatal ultrasound and postmortem findings in 1029 fetuses following termination of pregnancy.

Published in:

2016

By:

Struksnæs, C.;
Blaas, H.‐G. K.;
Eik‐Nes, S. H.;
Vogt, C.

Publication type:

journal article

Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis.

Published in:

2015

By:

Grande, M.;
Jansen, F. A. R.;
Blumenfeld, Y. J.;
Fisher, A.;
Odibo, A. O.;
Haak, M. C.;
Borrell, A.

Publication type:

journal article

A Child with VACTERL Association for Deceased Donor Renal Transplantation: Perioperative Anesthetic Management Concerns.

Published in:

Indian Journal of Transplantation, 2023, v. 17, n. 1, p. 110, doi. 10.4103/ijot.ijot_76_22

By:

Trivedi, Viral;
Vaniya, Nilesh;
Vora, Kalpana;
Singh, Amrita

Publication type:

Article

Case Study. Peritoneal Dialysis Catheter Obstruction by Uterine Tubaric Fimbriae in an Adult Woman with Developmental Abnormalities.

Published in:

2016

By:

Grosjean, Fabrizio;
Mangione, Filippo;
Sileno, Giuseppe;
Ticozzelli, Elena;
Abelli, Massimo;
Dal Canton, Antonio

Publication type:

Case Study

The Structure of Informal Social Networks of Persons with Profound Intellectual and Multiple Disabilities.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2015, v. 28, n. 3, p. 249, doi. 10.1111/jar.12134

By:

Kamstra, A.;
Putten, A. A. J.;
Vlaskamp, C.

Publication type:

Article

The Role of the External Personal Assistants for Children with Profound Intellectual and Multiple Disabilities Working in the Children's Home.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2015, v. 28, n. 3, p. 201, doi. 10.1111/jar.12122

By:

Axelsson, Anna Karin

Publication type:

Article

Can you Know me Better? An Exploratory Study Combining Behavioural and Physiological Measurements for an Objective Assessment of Sensory Responsiveness in a Child with Profound Intellectual and Multiple Disabilities.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2012, v. 25, n. 6, p. 522, doi. 10.1111/j.1468-3148.2012.00698.x

By:

Lima, Mariely;
Silva, Karine;
Magalhães, Ana;
Amaral, Isabel;
Pestana, Helena;
de Sousa, Liliana

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