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Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 8, p. 1053, doi. 10.1007/s00431-013-1996-5
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- Publication type:
- Article
Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0295-9
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- Publication type:
- Article
Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever.
- Published in:
- 2015
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- Publication type:
- Case Study
Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-78
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- Publication type:
- Article
Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study.
- Published in:
- 2012
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- Publication type:
- journal article
Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature.
- Published in:
- Journal of Clinical Investigation, 2006, v. 116, n. 3, p. 760, doi. 10.1172/JCI25303
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- Publication type:
- Article
High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia.
- Published in:
- 2022
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- Publication type:
- journal article
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
- Published in:
- Nature Genetics, 2000, v. 25, n. 2, p. 182, doi. 10.1038/76041
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- Publication type:
- Article
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
- Published in:
- 2016
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- Publication type:
- journal article
Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation.
- Published in:
- Frontiers in Endocrinology, 2019, p. N.PAG, doi. 10.3389/fendo.2019.00381
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- Publication type:
- Article
Proteomic Analysis of Nasal Epithelial Cells from Cystic Fibrosis Patients.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0108671
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- Publication type:
- Article
Involvement of the Same TNFR1 Residue in Mendelian and Multifactorial Inflammatory Disorders.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069757
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- Publication type:
- Article
The Risk of Familial Mediterranean Fever in <i>MEFV</i> Heterozygotes: A Statistical Approach.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068431
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- Publication type:
- Article
Involvement of the Modifier Gene of a Human Mendelian Disorder in a Negative Selection Process.
- Published in:
- PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007676
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- Publication type:
- Article
Matrix Metalloproteinase Gene Polymorphisms and Bronchopulmonary Dysplasia: Identification of MMP16 as a New Player in Lung Development.
- Published in:
- PLoS ONE, 2008, v. 3, n. 9, p. 1, doi. 10.1371/journal.pone.0003188
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- Publication type:
- Article
Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 11, p. 4334, doi. 10.1210/jc.2009-1327
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- Publication type:
- Article
Primary Growth Hormone (GH) Insensitivity and Insulin-Like Growth Factor Deficiency Caused by Novel Compound Heterozygous Mutations of the GH Receptor Gene: Genetic and Functional Studies of Simple and Compound Heterozygous States.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 6, p. 2223, doi. 10.1210/jc.2006-2624
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- Publication type:
- Article
Novel HESX1 Mutations Associated with a LifeThreatening Neonatal Phenotype, Pituitary Aplasia, but Normally Located Posterior Pituitary and No Optic Nerve Abnormalities.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 11, p. 4528, doi. 10.1210/jc.2006-0426
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- Publication type:
- Article
The Growth Response to Growth Hormone (GH) Treatment in Children with Isolated GH Deficiency Is Independent of the Presence of the Exon 3-Minus Isoform of the GH Receptor.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 10, p. 4171, doi. 10.1210/jc.2006-0063
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- Publication type:
- Article
Functional Relationship between LHX4 and POU1F1 in Light of the LHX4 Mutation Identified in Patients with Pituitary Defects.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 9, p. 5456, doi. 10.1210/jc.2004-2332
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- Publication type:
- Article
Heterozygous Nonsense Mutation in Exon 3 of the Growth Hormone Receptor (GHR) in Severe GH Insensitivity (Laron Syndrome) and the Issue of the Origin and Function of the GHRd3 Isoform.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 4, p. 1705, doi. 10.1210/jc.2002-021667
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- Publication type:
- Article
Extensive Phenotypic Analysis of a Family with Growth Hormone (GH) Deficiency Caused by a Mutation in the GH-Releasing Hormone Receptor Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 2, p. 432, doi. 10.1210/jc.83.2.432
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- Publication type:
- Article
Nine Novel Growth Hormone Receptor Gene Mutations in Patients with Laron Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1997, v. 82, n. 2, p. 435, doi. 10.1210/jcem.82.2.3725
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- Publication type:
- Article
Isolation and Expression of the Human hPF20 Gene Orthologous to Chlamydomonas pf20.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2002, v. 26, n. 3, p. 362, doi. 10.1165/ajrcmb.26.3.4738
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- Publication type:
- Article
The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia.
- Published in:
- Human Genetics, 2000, v. 107, n. 6, p. 642, doi. 10.1007/s004390000427
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- Publication type:
- Article
Proteasomal degradation of NOD2 by NLRP12 in monocytes promotes bacterial tolerance and colonization by enteropathogens.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07750-5
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- Publication type:
- Article
Recurrent Intragenic Duplication within the <bold><italic>NR5A1</italic></bold> Gene and Severe Proximal Hypospadias.
- Published in:
- Sexual Development, 2017, v. 11, n. 5/6, p. 293, doi. 10.1159/000485909
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- Publication type:
- Article
The role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 653, doi. 10.1038/ejhg.2012.223
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- Publication type:
- Article
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233
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- Publication type:
- Article
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 1, p. 51, doi. 10.1038/sj.ejhg.5200574
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- Publication type:
- Article
Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 9/10, p. 993, doi. 10.1515/jpem-2014-0289
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- Publication type:
- Article
Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 1, p. 85, doi. 10.1530/EJE-12-0026
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- Publication type:
- Article
Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency.
- Published in:
- Liver International, 2021, v. 41, n. 8, p. 1894, doi. 10.1111/liv.14935
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- Publication type:
- Article
Intronic Mutation in the Growth Hormone (GH) Receptor Gene from a Girl with Laron Syndrome and Extremely High Serum GH Binding Protein: Extended Phenotypic Study in a Very Large Pedigree.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1997, v. 10, n. 3, p. 265
- By:
- Publication type:
- Article
Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome?
- Published in:
- 2019
- By:
- Publication type:
- journal article
RaDiCo, the French national research program on rare disease cohorts.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.
- Published in:
- Rheumatology, 2023, v. 62, n. 1, p. 473, doi. 10.1093/rheumatology/keac274
- By:
- Publication type:
- Article
Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.
- Published in:
- Rheumatology, 2021, v. 60, n. 12, p. 5775, doi. 10.1093/rheumatology/keab252
- By:
- Publication type:
- Article
Spondyloarthritis associated with familial Mediterranean fever: successful treatment with anakinra.
- Published in:
- Rheumatology, 2017, v. 56, n. 1, p. 167, doi. 10.1093/rheumatology/kew290
- By:
- Publication type:
- Article
Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.81280
- By:
- Publication type:
- Article
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 2, p. 266, doi. 10.1093/hmg/ddx396
- By:
- Publication type:
- Article
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 3, p. 472, doi. 10.1093/hmg/ddv486
- By:
- Publication type:
- Article
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 4, p. 765, doi. 10.1093/hmg/ddr508
- By:
- Publication type:
- Article
Unusual Phenotypic Features in a Patient with a Novel Splice Mutation in the GHRHR Gene.
- Published in:
- Molecular Medicine, 2008, v. 14, n. 5/6, p. 286, doi. 10.2119/2007-00128.Hilal
- By:
- Publication type:
- Article
Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders.
- Published in:
- Arthritis & Rheumatology, 2014, v. 66, n. 9, p. 2621, doi. 10.1002/art.38727
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- Publication type:
- Article
"Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france".
- Published in:
- Helicobacter, 2021, v. 26, n. 2, p. 1, doi. 10.1111/hel.12789
- By:
- Publication type:
- Article
FMF in heterozygotes: are we able to accurately diagnose the disease in very young children?
- Published in:
- 2011
- By:
- Publication type:
- Abstract