Works matching DE "GENETIC disorders in children"

Results: 700

Pseudo-Bartter as an initial presentation of cystic fibrosis. A case report and review of the literature.

Published in:

2010

By:

Marah, M. A.

Publication type:

Case Study

Causes and anatomical site of blindness and severe visual loss in Isfahan, Islamic Republic of Iran.

Published in:

Eastern Mediterranean Health Journal, 2010, v. 16, n. 2, p. 228, doi. 10.26719/2010.16.2.228

By:

Dehghan, A.;
Kianersi, F.;
Moazam, E.;
Ghanbari, H.

Publication type:

Article

A Pediatric Genetic Disorder Diagnosed in Adulthood.

Published in:

PLoS Medicine, 2006, v. 3, n. 1, p. e15, doi. 10.1371/journal.pmed.0030015

By:

Church, Joseph A.

Publication type:

Article

Congenital pseudoarthrosis of the tibia with localised gigantism in a case of congenital constriction band syndrome.

Published in:

Indian Journal of Plastic Surgery, 2011, v. 44, n. 1, p. 139, doi. 10.1055/s-0039-1699494

By:

Agashe, Mandar V.;
Rathod, Chasanal M.;
Dhamele, Jaideep A.

Publication type:

Article

Current concepts in genetics of nonsyndromic clefts.

Published in:

Indian Journal of Plastic Surgery, 2009, v. 42, n. 1, p. 68, doi. 10.4103/0970-0358.53004

By:

Murthy, Jyotsna;
Bhaskar, L. V. K. S.

Publication type:

Article

Down syndrome and precocious menopause.

Published in:

Journal of Assisted Reproduction & Genetics, 2005, v. 22, n. 3, p. 129, doi. 10.1007/s10815-005-4878-6

By:

Bartmann, Ana Karina;
Araújo, Francielle M.;
Iannetta, Odilon;
Paneto, João C.C.;
Martelli, Lúcia;
Ramos, Ester Silveria

Publication type:

Article

Guideline on Dental Management of Heritable Dental Developmental Anomalies.

Published in:: 2016
Publication type:: journal article

Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onsetCommunicated by Arnold MunnichOnline Citation: Human Mutation, Mutation in Brief #589 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/589.pdf

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 444

By:

J. Häberle;
E. Schmidt;
S. Pauli;
B. Rapp;
E. Christensen;
B. Wermuth;
H.G. Koch

Publication type:

Article

Hemophilia Care in the Pediatric Age.

Published in:

Journal of Clinical Medicine, 2017, v. 6, n. 5, p. 54, doi. 10.3390/jcm6050054

By:

Bertamino, Marta;
Riccardi, Francesca;
Banov, Laura;
Svahn, Johanna;
Molinari, Angelo Claudio

Publication type:

Article

Health-related quality of life among children with hereditary angioedema.

Published in:

Pediatric Allergy & Immunology, 2017, v. 28, n. 4, p. 370, doi. 10.1111/pai.12712

By:

Engel‐Yeger, Batya;
Farkas, Henriette;
Kivity, Shmuel;
Veszeli, Nóra;
Kőhalmi, Kinga Viktória;
Kessel, Aharon

Publication type:

Article

Misdiagnosed CD19 deficiency leads to severe lung disease.

Published in:

Pediatric Allergy & Immunology, 2014, v. 25, n. 6, p. 603, doi. 10.1111/pai.12222

By:

Skendros, Panagiotis;
Rondeau, Sophie;
Chateil, Jean‐Francois;
Bui, Stephanie;
Bocly, Veronique;
Moreau, Jean‐Francois;
Theodorou, Ioannis;
Aladjidi, Nathalie

Publication type:

Article

Presence of Helicobacter pylori in a Sibling is Associated with a Long-Term Increased Risk of H. pylori Infection in Israeli Arab Children.

Published in:

Helicobacter, 2010, v. 15, n. 2, p. 108, doi. 10.1111/j.1523-5378.2010.00746.x

By:

Muhsen, Khitam;
Athamna, Abed;
Bialik, Anya;
Alpert, Gershon;
Cohen, Dani

Publication type:

Article

Cognitive-behavioural and autistic features of children with subtelomeric deletions.

Published in:

Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 813, doi. 10.1111/j.1365-2788.2008.01119_8.x

By:

Fisch, G. S.;
Carey, J.;
Youngblom, J.;
Simensen, R.;
Battaglia, A.

Publication type:

Article

A comparative study of mastery motivation in young children with Down's syndrome: similar outcomes, different processes?

Published in:

Journal of Intellectual Disability Research, 2003, v. 47, n. 3, p. 181, doi. 10.1046/j.1365-2788.2003.00460.x

By:

Gilmore, L.;
Cuskelly, M.;
Hayes, A.

Publication type:

Article

A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome.

Published in:

Journal of Intellectual Disability Research, 2002, v. 46, n. 2, p. 133, doi. 10.1046/j.1365-2788.2002.00361.x

By:

Collins, M. S. Ross;
Cornish, K.

Publication type:

Article

Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome.

Published in:

2017

By:

Deeb, Asma

Publication type:

Case Study

ASSOCIATION STUDY OF FIVE MUTATION IN FGFR1 AND FGFR2 GENES IN INDIAN CHILDREN WITH CRANIOSYNOSTOSIS.

Published in:

Genetika (0534-0012), 2013, v. 45, n. 3, p. 881, doi. 10.2298/GENSR1303881P

By:

PANDEY, Rajeev Kumar;
ALI, Abid;
BAJPAI, Minu;
GAYAN, Sukanya;
SINGH, Amit

Publication type:

Article

Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.

Published in:

Clinical & Experimental Dermatology, 2015, v. 40, n. 5, p. 529, doi. 10.1111/ced.12587

By:

Fong, K.;
Takeichi, T.;
Liu, L.;
Pramanik, R.;
Lee, J.;
Akiyama, M.;
McGrath, J. A.

Publication type:

Article

Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene.

Published in:

Clinical & Experimental Dermatology, 2008, v. 33, n. 5, p. 602, doi. 10.1111/j.1365-2230.2008.02734.x

By:

Remenyik, É;
Lecha, M.;
Badenas, C.;
Kószó, F.;
Vass, V.;
Herrero, C.;
Varga, V.;
Emri, G.;
Balogh, A.;
Horkay, I.

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

Eponym: Papillon-Lefevre syndrome.

Published in:

2011

By:

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

Publication type:

journal 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

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

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

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

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

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

Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia.

Published in:

2009

By:

Poisson, Alice;
Vasdev, Ashok;
Brunelle, Francis;
Plauchu, Henri;
Dupuis-Girod, Sophie;
French Italian HHT network

Publication type:

journal article

Neuroglial heterotopia causing neonatal airway obstruction: presentation, management, and literature review.

Published in:

2008

By:

Husein, Omar F.;
Collins, Meredith;
Kang, D. Richard

Publication type:

journal article

Outcome of three cases of untreated maternal glutaric aciduria type I.

Published in:

2008

By:

Garcia, Paula;
Martins, Esmeralda;
Diogo, Luísa;
Rocha, Hugo;
Marcão, Ana;
Gaspar, Eurico;
Almeida, Margarida;
Vaz, Catarina;
Soares, Isabel;
Barbot, Clara;
Vilarinho, Laura;
Diogo, Luísa;
Marcão, Ana

Publication type:

journal article

Tufting enteropathy and skeletal dysplasia: is there a link?

Published in:

2007

By:

El-Matary, Wael;
Dalzell, A. Mark;
Kokai, George;
Davidson, Joyce E.

Publication type:

journal article

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

Published in:

2007

By:

De Vries, Maaike C.;
Rodenburg, Richard J.;
Morava, Eva;
Van Kaauwen, Edwin P. M.;
Ter Laak, Henk;
Mullaart, Reinier A.;
Snoeck, Irina N.;
Van Hasselt, Peter M.;
Harding, Peter;
Van den Heuvel, Lambert P. W.;
Smeitink, Jan A. M.

Publication type:

journal article

Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease.

Published in:

2004

By:

Mills, Kevin;
Vellodi, Ashok;
Morris, Peter;
Cooper, Donald;
Morris, Michael;
Young, Elisabeth;
Winchester, Bryan

Publication type:

journal article

A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

Published in:

2003

By:

Seidel, Jörg;
Heller, Anita;
Senger, Gabriele;
Starke, Heike;
Chudoba, Ilse;
Kelbova, Christina;
Tönnies, Holger;
Neitzel, Heidemarie;
Haase, Claudia;
Beensen, Volkmar;
Zintl, Felix;
Claussen, Uwe;
Liehr, Thomas;
Seidel, Jörg;
Tönnies, Holger

Publication type:

journal article

Congenital cytomegalovirus infection after recurrent infection: case reports and review of the literature.

Published in:

2003

By:

Gaytant, Michael A.;
Rours, G. Ingrid J. G.;
Steegers, Eric A. P.;
Galama, Jochem M. D.;
Semmekrot, Ben A.

Publication type:

journal article

A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature.

Published in:

2003

By:

Becker, Sandra Anna;
Popp, Susanne;
Rager, Klaus;
Jauch, Anna

Publication type:

journal article

Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations.

Published in:

2002

By:

Padoan, Rita;
Bassotti, Alessandra;
Seia, Manuela;
Corbetta, Carlo

Publication type:

journal article

Unrelated CD3/CD19-Depleted Peripheral Stem Cell Transplantation for Hurler Syndrome.

Published in:

Pediatric Hematology & Oncology, 2014, v. 31, n. 8, p. 723, doi. 10.3109/08880018.2014.939794

By:

Schwinger, Wolfgang;
Sovinz, Petra;
Benesch, Martin;
Lackner, Herwig;
Seidel, Markus;
Strenger, Volker;
Sperl, Daniela;
Raicht, Andrea;
Brunner-Krainz, Michaela;
Paschke, Eduard;
Plecko, Barbara;
Urban, Christian

Publication type:

Article

New genetics and diagnosis of childhood B-cell precursor acute lymphoblastic leukemia.

Published in:

Pediatric Reports, 2011, v. 3, p. 5, doi. 10.4081/pr.2011.s2.e4

By:

Harrison, Christine

Publication type:

Article

Progressive osseous heteroplasia: diagnosis, treatment, and prognosis.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 37, doi. 10.2147/TACG.S51064

By:

Pignolo, Robert J.;
Ramaswamy, Girish;
Fong, John T.;
Shore, Eileen M.;
Kaplan, Frederick S.

Publication type:

Article

QT dispersion and cardiac involvement in children with Familial Mediterranean fever.

Published in:

Cardiology in the Young, 2012, v. 22, n. 4, p. 404, doi. 10.1017/S1047951111001867

By:

Koca, Bülent;
Kasapçopur, Özgür;
Bakari, Süleyman;
Sönmez, Emine;
Öztunç, Funda;
Eroğlu, Ayşe Güler;
Saltik, Levent;
Calay, Özden

Publication type:

Article

Dilated cardiomyopathy presenting in childhood: aetiology, diagnostic approach, and clinical course.

Published in:

Cardiology in the Young, 2010, v. 20, n. 6, p. 680, doi. 10.1017/S1047951110001009

By:

Gesuete, Valentina;
Ragni, Luca;
Prandstraller, Daniela;
Oppido, Guido;
Formigari, Roberto;
Gargiulo, Gaetano D.;
Picchio, Fernando M.

Publication type:

Article

Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 4, p. 417, doi. 10.1038/ejhg.2008.190

By:

Stuhrmann, Manfred;
Brakensiek, Kai;
Argyriou, Loukas;
Boehm, Ingolf;
Hinderhofer, Katrin;
Bauer, Ingrid;
Rhode, Britta M;
Maelzer, Madeleine;
Zuehlke, Christine;
Krueger, Gabriele;
Schmidtke, Joerg

Publication type:

Article

When good CF tests go bad.

Published in:

2009

By:

Devitt, Trudi Mc;
Barton, David

Publication type:

Opinion