Works matching DE "GENETIC disorders in children"

Results: 700

Malpuech syndrome: implications for anesthetic management.

Published in:

2010

By:

Kiernan, Fiona;
Crowe, Suzanne

Publication type:

Letter

Infraclavicular coracoid approach brachial plexus block for radial club hand repair.

Published in:

Pediatric Anesthesia, 2007, v. 17, n. 9, p. 863, doi. 10.1111/j.1460-9592.2007.02219.x

By:

PONDE, VRUSHALI;
ATHANI, B.;
THRUPPAL, SHREEDHAR

Publication type:

Article

Congenital hyperinsulinism – a review of the disorder and a discussion of the anesthesia management.

Published in:

Pediatric Anesthesia, 2007, v. 17, n. 7, p. 616, doi. 10.1111/j.1460-9592.2007.02192.x

By:

HARDY, OLGA T.;
LITMAN, RONALD S.

Publication type:

Article

Anesthesia management for the child with Sanjad–Sakati syndrome.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 11, p. 1189, doi. 10.1111/j.1460-9592.2006.01981.x

By:

Platis, Cari M.;
Wasersprung, David;
Kachko, Ludmyla;
Tsunzer, Igor;
Katz, Jacob

Publication type:

Article

Anesthesia in a patient with chromosome 11;22 translocation: a case report and literature review.

Published in:

Pediatric Anesthesia, 2005, v. 15, n. 11, p. 985, doi. 10.1111/j.1460-9592.2005.01561.x

By:

Drum, Elizabeth T.;
Herlich, Andrew;
Levine, Bruce;
Mayhew, James F.

Publication type:

Article

Awake nasotracheal intubation using fiberoptic bronchoscope in a pediatric patient with Freeman–Sheldon syndrome.

Published in:

Pediatric Anesthesia, 2005, v. 15, n. 9, p. 790, doi. 10.1111/j.1460-9592.2004.01533.x

By:

Kim, J. S.;
Park, S. Y.;
Min, S. K.;
Kim, J. H.;
Lee, S. Y.;
Moon, B. K.

Publication type:

Article

RET promoter variations in familial African degenerative leiomyopathy (ADL): first report of a possible genetic-environmental interaction.

Published in:

2012

By:

Rensburg, C.;
Moore, S.;
Zaahl, M.

Publication type:

Report

Pancreatic head resection preserving the main pancreatic duct for congenital hyperinsulinism of infancy.

Published in:

Pediatric Surgery International, 2012, v. 28, n. 9, p. 935, doi. 10.1007/s00383-012-3147-x

By:

Obatake, Masayuki;
Mochizuki, Kyoko;
Taura, Yasuaki;
Inamura, Yukio;
Nakatomi, Akiko;
Kinoshita, Fumiko;
Nagayasu, Takeshi

Publication type:

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

Closed gastroschisis.

Published in:

2011

By:

Shalaby, Aly;
Davenport, Mark

Publication type:

commentary

Hereditary pancreatitis.

Published in:

2010

By:

Lal, Alysandra;
Lal, Dave;
Lal, Dave R

Publication type:

journal article

A case of arrested primary congenital glaucoma.

Published in:

Eye (0950-222X), 2013, v. 27, n. 1, p. 100, doi. 10.1038/eye.2012.232

By:

Shaw, M;
Handley, S;
Porooshani, H;
Papadopoulos, M

Publication type:

Article

A nine-year-old patient affected by chromosomal aberration with the suspicion of juvenile idiopathic arthritis.

Published in:

2018

By:

Żuber, Zbigniew;
Nawrotek, Magdalena;
Sobczyk, Małgorzata;
Mężyk, Elżbieta;
Turowska-Heydel, Dorota

Publication type:

Case Study

Lethal Language, Lethal Decisions.

Published in:

Hastings Center Report, 2003, v. 33, n. 2, p. 37, doi. 10.2307/3528153

By:

KOOGLER, TRACY K.;
WILFOND, BENJAMIN S.;
ROSS, LAINIE FRIEDMAN

Publication type:

Article

Argininosuccinic aciduria: Clinical and biochemical phenotype findings in Malaysian children.

Published in:: Malaysian Journal of Pathology, 2010, v. 32, n. 2, p. 87
Publication type:: Article

Attitudes Toward Pre-implantation Genetic Diagnosis (PGD) for Genetic Disorders Among Potential Users in Malaysia.

Published in:

Science & Engineering Ethics, 2016, v. 22, n. 1, p. 133, doi. 10.1007/s11948-015-9639-z

By:

Olesen, Angelina;
Nor, Siti;
Amin, Latifah

Publication type:

Article

LETTERER-SIWE'S DISEASE. REPORT OF A CASE, WITH AUTOPSY.

Published in:

Australasian Journal of Dermatology, 1966, v. 8, n. 3, p. 186, doi. 10.1111/j.1440-0960.1966.tb01380.x

By:

Gunther, W. W.

Publication type:

Article

ACRODERMATITIS ENTEROPATHICA.

Published in:

Australasian Journal of Dermatology, 1965, v. 8, n. 1, p. 10, doi. 10.1111/j.1440-0960.1965.tb01365.x

By:

Entwisle, Brian R.

Publication type:

Article

CONGENITAL ATRICHIA.

Published in:

Australasian Journal of Dermatology, 1964, v. 7, n. 4, p. 223, doi. 10.1111/j.1440-0960.1964.tb01355.x

By:

Linn, Howard W.

Publication type:

Article

Coexistence of Gilbert Syndrome and Hereditary Spherocytosis in a Child Presenting with Extreme Jaundice.

Published in:

2014

By:

Jae Hee Lee;
Kyung Rye Moon

Publication type:

Case Study

Letter: A case of achondrogenesis type II associated with huge cystic hygroma: prenatal diagnosis by ultrasonography.

Published in:

1999

By:

Won, H.S.;
Yoo, H.K.;
Lee, P. R.;
Lee, I.S.;
Kim, A.;
Nam, J. H.;
Mok, J. E.

Publication type:

Letter

Students with Cystic Fibrosis Participating in Recess.

Published in:

Virginia Journal, 2014, v. 35, n. 1, p. 15

By:

Lucas, Matthew D.;
Jones, Brett S.

Publication type:

Article

Prevalence of Congenital Ocular Anomalies among Children with Genetic Disorders: An Egyptian Study.

Published in:

2018

By:

Tomairek, Reham H.;
Amin, Maha M.;
Raafat, Karima;
Abdel Hady, Sawsan;
Elkotoury, Ahmed

Publication type:

journal article

Genetic Services for Foster Children: An Unmet Need?

Published in:

Child Welfare, 1990, v. 69, n. 4, p. 341

By:

Rauch, Julia B.

Publication type:

Article

Association between CYP2C19 extensive metabolizer phenotype and childhood anti-reflux surgery following failed proton pump inhibitor medication treatment.

Published in:

2018

By:

Franciosi, James P.;
Mougey, Edward B.;
Williams, Andre;
Gomez Suarez, Roberto A.;
Thomas, Cameron;
Creech, Christa L.;
George, Katherine;
Corao, Diana;
Lima, John J.

Publication type:

journal article

Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI).

Published in:

2017

By:

Graff, Krzysztof;
Syczewska, Malgorzata

Publication type:

journal article

The ethical framework for performing research with rare inherited neurometabolic disease patients.

Published in:

2017

By:

Giannuzzi, Viviana;
Devlieger, Hugo;
Margari, Lucia;
Odlind, Viveca;
Ragab, Lamis;
Bellettato, Cinzia;
D'Avanzo, Francesca;
Lampe, Christina;
Cassis, Linda;
Cortès-Saladelafont, Elisenda;
Cazorla, Ángels;
Barić, Ivo;
Cvitanović-Šojat, Ljerka;
Fumić, Ksenija;
Dali, Christine;
Bartoloni, Franco;
Bonifazi, Fedele;
Scarpa, Maurizio;
Ceci, Adriana;
Odlind, Viveca Lena

Publication type:

journal article

Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1691, doi. 10.1007/s00431-014-2314-6

By:

Martin, Florence;
Kana, Veronika;
Mori, Andrea;
Fischer, Dirk;
Parkin, Nicolas;
Boltshauser, Eugen;
Rushing, Elisabeth;
Klein, Andrea

Publication type:

Article

Chemical pleurodesis using a Viscum album extract in infants with congenital chylothorax.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 6, p. 823, doi. 10.1007/s00431-014-2283-9

By:

Cho, Hwa;
Na, Kook;
Kim, Do;
Choi, Young;
Ma, Jae;
Jeong, In

Publication type:

Article

Pyogenic liver abscess and peritonitis due to Rhizopus oryzae in a child with Papillon-Lefevre syndrome.

Published in:

2011

By:

Dalgic, Buket;
Bukulmez, Aysegul;
Sari, Sinan

Publication type:

journal article

Eponym: Papillon-Lefevre syndrome.

Published in:

2011

By:

Dalgıc, Buket;
Bukulmez, Aysegul;
Sarı, Sinan;
Dalgıc, Buket;
Sarı, Sinan

Publication type:

journal article

Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.

Published in:

2011

By:

Dumic, Miroslav;
Barišić, Nina;
Rojnić-Putarek, Nataša;
Stanimirović, Andrija;
Koehler, Katrin;
Huebner, Angela;
Kušec, Vesna;
Dumić, Miroslav;
Barišić, Nina;
Rojnić-Putarek, Nataša;
Kušec, Vesna;
Stanimirović, Andrija

Publication type:

journal article

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).

Published in:

2010

By:

Roberts, Catherine M. L.;
Angus, Janet E.;
Leach, Ian H.;
McDermott, Elizabeth M.;
Walker, David A.;
Ravenscroft, Jane C.

Publication type:

journal article

Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.

Published in:

2010

By:

Dumic, Katja;
Wilson, Robert;
Thanasawat, Pavinee;
Grubic, Zorana;
Kusec, Vesna;
Stingl, Katarina;
New, Maria I.

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

Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome.

Published in:

2010

By:

Delft, Eveline van;
Andriessen, Peter;
Vaessens, Colleen N. A. L.;
Buijs, Jan;
Oetomo, Sidarto Bambang;
van Delft, Eveline;
Bambang Oetomo, Sidarto

Publication type:

journal article

Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1.

Published in:

2010

By:

Schlump, Jan-Ulrich;
Mayatepek, Ertan;
Spiekerkoetter, Ute

Publication type:

journal article

Congenital Laryngeal Stridor (Laryngomalacia).

Published in:: Clinical Pediatrics, 1973, v. 12, n. S1, p. 79
Publication type:: Article

Congenital Pulmonary Lymphangiectasis.

Published in:

Clinical Pediatrics, 1972, v. 11, n. 2, p. 107, doi. 10.1177/000992287201100219

By:

Kandall, Stephen R.

Publication type:

Article

Congenital Cystic Adenomatoid Malformation of the Lung.

Published in:

Clinical Pediatrics, 1969, v. 8, n. 6, p. 327, doi. 10.1177/000992286900800605

By:

Parodi-Hueck, Luis;
Densler, James F.;
Reed, Richard C.;
Poulos, Peter;
Shulman, Murray W.

Publication type:

Article

The Adopted Child and Congenital Malformations.

Published in:

Clinical Pediatrics, 1967, v. 6, n. 12, p. 696, doi. 10.1177/000992286700601211

By:

Dumars Jr, K. W.

Publication type:

Article

CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIC PURPURA.

Published in:

Clinical Pediatrics, 1966, v. 5, n. 3, p. 143, doi. 10.1177/000992286600500303

By:

Eisenstein, Elliot M.

Publication type:

Article

Genu Recurvatum Congenitum in the Newborn: Its Incidence, Course, Treatment, Prognosis.

Published in:

Clinical Pediatrics, 1965, v. 4, n. 10, p. 587, doi. 10.1177/000992286500401006

By:

Charif, Pija;
Reichelderfer, Thomas E.

Publication type:

Article

Progressive symmetric erythrokeratoderma: A rare case report.

Published in:

2016

By:

Patro, Nibedita;
Panda, Maitreyee;
Mohapatra, Madhuchhanda;
Dash, Mrutunjay;
Jena, Subhransu Sekhar

Publication type:

Case Study

Comèl–Netherton’s syndrome in siblings.

Published in:

2016

By:

Shanmukhappa, Asha Gowrappala;
Kharge, Priyadarshini;
Shivaram, Bhumika;
Budamakuntala, Leelavathy

Publication type:

Case Study

Anhidrosis and nonhealing painless leg ulcer with osteomyelitis in a young boy.

Published in:

Indian Journal of Paediatric Dermatology, 2014, v. 15, n. 2, p. 79, doi. 10.4103/2319-7250.139504

By:

Dutta, Abhijit;
Ghosh, Sudip Kumar;
Chowdhury, Amlan;
Ghosh, Arghyaprasun

Publication type:

Article

Wilms' tumor: A systematic review.

Published in:

Archives of Hellenic Medicine / Arheia Ellenikes Iatrikes, 2014, v. 31, n. 1, p. 41

By:

KOSMAS, N.;
TSOUKALAS, N.

Publication type:

Article

Congenital Massive Neck Swelling in a Neonate.

Published in:

Indian Journal of Medical Specialities, 2010, v. 1, n. 1, p. 33, doi. 10.7713/ijms.2010.0008

By:

Narang, Manish;
Gomber, Sunil;
Salota, Vishal;
Kau, Gurleen

Publication type:

Article

Face Recognition in Children with a Pervasive Developmental Disorder Not Otherwise Specified.

Published in:

Journal of Autism & Developmental Disorders, 2003, v. 33, n. 3, p. 303, doi. 10.1023/A:1024458618172

By:

Serra, M.;
Aithaus, M.;
De Sonnevilte, L. M. J.;
Stant, A. D.;
Jackson, A. E.;
Minderaa, R. B.

Publication type:

Article

Update on Overall Prevalence of Major Birth Defects- Atlanta, Georgia, 1978-2005.

Published in:

JAMA: Journal of the American Medical Association, 2008, v. 299, n. 7, p. 756, doi. 10.1001/jama.299.7.756

By:

Rynn, L;
Cragan, J;
Correa, A

Publication type:

Article