(Q35692750)

9 August 2017

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title

Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles (English)

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9 August 2017

Joel Zlotogora

1

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9 August 2017

publication date

16 March 2004

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9 August 2017

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9 August 2017

volume

114

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9 August 2017

issue

6

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9 August 2017

page(s)

521-526

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Rare etiology of autosomal recessive disease in a child with noncarrier parents

9 August 2017

cites work

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12 December 2020

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations

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12 December 2020

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.

1 reference

12 December 2020

Development. There's something curious about paternal-age effects

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12 December 2020

Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients

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12 December 2020

Molecular Genotyping in Brazilian Patients with the Classical and Nonclassical Forms of 21-Hydroxylase Deficiency

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12 December 2020

Genetic risk assessment in carrier testing for spinal muscular atrophy

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12 December 2020

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

1 reference

12 December 2020

CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations

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12 December 2020

Uniparental disomy: a novel mechanism for thalassemia major

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12 December 2020

Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy

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12 December 2020

A novel mechanism for thalassaemia intermedia

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12 December 2020

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy

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12 December 2020

Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection

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12 December 2020

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

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12 December 2020

Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation

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12 December 2020

Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7

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12 December 2020

Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa

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12 December 2020

Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency

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12 December 2020

Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism

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12 December 2020

Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis.

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12 December 2020

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

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12 December 2020

Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms

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12 December 2020

Mutational Analysis in Lebanese Patients with Congenital Adrenal Hyperplasia due to a Deficit in 21-Hydroxylase

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12 December 2020

Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease

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12 December 2020

Spontaneous mutation as a risk factor

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12 December 2020

The role of the SMN gene in proximal spinal muscular atrophy

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12 December 2020

Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis

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12 December 2020

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement

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12 December 2020

Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

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12 December 2020

Leigh syndrome transmitted by uniparental disomy of chromosome 9.

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12 December 2020

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

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12 December 2020

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

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12 December 2020

Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations

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12 December 2020

Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.

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12 December 2020

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

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12 December 2020

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis

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12 December 2020

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

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12 December 2020

A new genetic concept: uniparental disomy and its potential effect, isodisomy

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12 December 2020

Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency

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12 December 2020

Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.

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12 December 2020

Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis

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12 December 2020

Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia

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12 December 2020

Uniparental disomy as a mechanism for human genetic disease

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12 December 2020

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.

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12 December 2020

Uniparental disomies in unselected populations

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12 December 2020

A de Novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene

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12 December 2020

Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa

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12 December 2020

Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene

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12 December 2020

Bloom syndrome and maternal uniparental disomy for chromosome 15.

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12 December 2020

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.

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12 December 2020

Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

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12 December 2020

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus

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12 December 2020

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

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12 December 2020

Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan.

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12 December 2020

Uniparental disomy in steroid 5alpha-reductase 2 deficiency

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12 December 2020

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation

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12 December 2020

Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus

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12 December 2020

Uniparental disomy in cartilage-hair hypoplasia

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12 December 2020

Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis

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12 December 2020

10.1007/S00439-004-1105-Y

Identifiers

DOI

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9 August 2017

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