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Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders

Mitra, Ileena ; Lavillaureix, Alinoë ; Yeh, Erika ; [et al.]

Public Library of Science (PLoS) ; 2017

In: PLOS Genetics Vol. 13, No. 1 ( 2017-1-11), p. e1006516-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 13, No. 1 ( 2017-1-11), p. e1006516-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1006516

DOI: 10.1371/journal.pgen.1006516.g001

DOI: 10.1371/journal.pgen.1006516.g002

DOI: 10.1371/journal.pgen.1006516.g003

DOI: 10.1371/journal.pgen.1006516.g004

DOI: 10.1371/journal.pgen.1006516.t001

DOI: 10.1371/journal.pgen.1006516.t002

DOI: 10.1371/journal.pgen.1006516.s001

DOI: 10.1371/journal.pgen.1006516.s002

DOI: 10.1371/journal.pgen.1006516.s003

DOI: 10.1371/journal.pgen.1006516.s004

DOI: 10.1371/journal.pgen.1006516.s005

DOI: 10.1371/journal.pgen.1006516.s006

DOI: 10.1371/journal.pgen.1006516.s007

DOI: 10.1371/journal.pgen.1006516.s008

DOI: 10.1371/journal.pgen.1006516.s009

DOI: 10.1371/journal.pgen.1006516.s010

DOI: 10.1371/journal.pgen.1006516.s011

DOI: 10.1371/journal.pgen.1006516.s012

DOI: 10.1371/journal.pgen.1006516.s013

DOI: 10.1371/journal.pgen.1006516.s014

DOI: 10.1371/journal.pgen.1006516.s015

DOI: 10.1371/journal.pgen.1006516.s016

DOI: 10.1371/journal.pgen.1006516.s017

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2017

detail.hit.zdb_id: 2186725-2

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Pleiotropic Mechanisms Indicated for Sex Differences in Autism

Mitra, Ileena ; Tsang, Kathryn ; Ladd-Acosta, Christine ; [et al.]

Public Library of Science (PLoS) ; 2016

In: PLOS Genetics Vol. 12, No. 11 ( 2016-11-15), p. e1006425-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 12, No. 11 ( 2016-11-15), p. e1006425-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1006425

DOI: 10.1371/journal.pgen.1006425.g001

DOI: 10.1371/journal.pgen.1006425.g002

DOI: 10.1371/journal.pgen.1006425.g003

DOI: 10.1371/journal.pgen.1006425.t001

DOI: 10.1371/journal.pgen.1006425.t002

DOI: 10.1371/journal.pgen.1006425.t003

DOI: 10.1371/journal.pgen.1006425.t004

DOI: 10.1371/journal.pgen.1006425.s001

DOI: 10.1371/journal.pgen.1006425.s002

DOI: 10.1371/journal.pgen.1006425.s003

DOI: 10.1371/journal.pgen.1006425.s004

DOI: 10.1371/journal.pgen.1006425.s005

DOI: 10.1371/journal.pgen.1006425.s006

DOI: 10.1371/journal.pgen.1006425.s007

DOI: 10.1371/journal.pgen.1006425.s008

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2016

detail.hit.zdb_id: 2186725-2

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Correction: Pleiotropic Mechanisms Indicated for Sex Differences in Autism

Mitra, Ileena ; Tsang, Kathryn ; Ladd-Acosta, Christine ; [et al.]

Public Library of Science (PLoS) ; 2017

In: PLOS Genetics Vol. 13, No. 6 ( 2017-6-7), p. e1006831-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 13, No. 6 ( 2017-6-7), p. e1006831-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1006831

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2017

detail.hit.zdb_id: 2186725-2

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ATP7A mutation with occipital horns and distal motor neuropathy: A continuum

Fradin, Melanie ; Lavillaureix, Alinoe ; Jaillard, Sylvie ; [et al.]

Elsevier BV ; 2020

In: European Journal of Medical Genetics Vol. 63, No. 12 ( 2020-12), p. 104087-

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In: European Journal of Medical Genetics, Elsevier BV, Vol. 63, No. 12 ( 2020-12), p. 104087-

Type of Medium: Online Resource

ISSN: 1769-7212

URL: Article

DOI: 10.1016/j.ejmg.2020.104087

Language: English

Publisher: Elsevier BV

Publication Date: 2020

detail.hit.zdb_id: 2186601-6

SSG: 12

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Phénotype prénatal des microduplications 22q11 : description de 12 nouveaux cas et Revue de la littérature

Mary, Laura ; Lavillaureix, Alinoë ; Perrot, Adélie ; [et al.]

Elsevier BV ; 2022

In: Morphologie Vol. 106, No. 354 ( 2022-09), p. S19-

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In: Morphologie, Elsevier BV, Vol. 106, No. 354 ( 2022-09), p. S19-

Type of Medium: Online Resource

ISSN: 1286-0115

URL: Article

DOI: 10.1016/j.morpho.2022.06.090

Language: French

Publisher: Elsevier BV

Publication Date: 2022

detail.hit.zdb_id: 2158707-3

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New generation sequencing for the diagnosis of intellectual disabilities: Exome sequencing or large panel?

Lavillaureix, Alinoe ; Nava, Caroline ; Mignot, Cyril ; [et al.]

Elsevier BV ; 2017

In: European Journal of Paediatric Neurology Vol. 21 ( 2017-06), p. e155-

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In: European Journal of Paediatric Neurology, Elsevier BV, Vol. 21 ( 2017-06), p. e155-

Type of Medium: Online Resource

ISSN: 1090-3798

URL: Article

DOI: 10.1016/j.ejpn.2017.04.1148

Language: English

Publisher: Elsevier BV

Publication Date: 2017

detail.hit.zdb_id: 2009085-7

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Skraban‐Deardorff syndrome: Six new cases of WDR 26 ‐related disease and expansion of the clinical phenotype

Cospain, Auriane ; Schaefer, Elise ; Faoucher, Marie ; [et al.]

Wiley ; 2021

In: Clinical Genetics Vol. 99, No. 5 ( 2021-05), p. 732-739

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In: Clinical Genetics, Wiley, Vol. 99, No. 5 ( 2021-05), p. 732-739

Abstract: Skraban‐Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The syndrome comprises intellectual deficiency, severe speech impairment, ataxic gait, seizures, mild hypotonia with feeding difficulties during infancy, and dysmorphic features. Here, we report on six novel heterozygous de novo pathogenic variants in WDR26 in six probands. The patients' phenotypes were consistent with original publication. One patient displayed marked hypotonia with an abnormal muscle biopsy; this finding warrants further investigation. Gait must be closely monitored, in order to highlight any musculoskeletal or neurological abnormalities and prompt further examinations. Speech therapy and alternative communication methods should be initiated early in the clinical follow‐up, in order to improve language and oral eating and drinking.

Type of Medium: Online Resource

ISSN: 0009-9163 , 1399-0004

URL: Issue

URL: Article

DOI: 10.1111/cge.v99.5

DOI: 10.1111/cge.13933

RVK:

WA 15000

Language: English

Publisher: Wiley

Publication Date: 2021

detail.hit.zdb_id: 2004581-5

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Antenatal finding of 16q24.1 duplication including FOXF1, revealing an autosomal dominant familial pathology with congenital short bowel, malrotation and renal abnormalities

Lavillaureix, Alinoë ; Foulon, Gauthier ; Launay, Erika ; [et al.]

Elsevier BV ; 2021

In: Clinics and Research in Hepatology and Gastroenterology Vol. 45, No. 5 ( 2021-09), p. 101562-

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In: Clinics and Research in Hepatology and Gastroenterology, Elsevier BV, Vol. 45, No. 5 ( 2021-09), p. 101562-

Type of Medium: Online Resource

ISSN: 2210-7401

URL: Article

DOI: 10.1016/j.clinre.2020.10.007

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2594333-9

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Table_1.xlsx

Molin, Arnaud ; Lemoine, Sandrine ; Kaufmann, Martin ; [et al.]

Frontiers Media SA ; 2021

In: Frontiers in Endocrinology Vol. 12 ( 2021-10-13)

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In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 12 ( 2021-10-13)

Abstract: Mutations in CYP24A1 (vitamin D 24-hydroxylase) and SLC34A1 (renal phosphate transporter NPT2a) cause autosomal recessive Infantile Hypercalcemia type 1 and 2, illustrating links between vitamin D and phosphate metabolism. Patients may present with hypercalciuria and alternate between chronic phases with normal serum calcium but inappropriately high 1,25-(OH) 2 D and appropriately low PTH, and acute phases with hypercalcemia with suppressed PTH. Mutations in SLC34A3 and SLC9A3R1 have been associated with phosphate wasting without hypercalcemia. The aims of this study were to evaluate the frequency of mutations in these genes in patients with a medical history suggestive of CYP24A1 mutation to search for a specific pattern. Using next generation sequencing, we screened for mutations in 185 patients with PTH levels & lt; 20 pg/mL, hypercalcemia and/or hypercalciuria, and relatives. Twenty-eight (15%) patients harbored biallelic mutations in CYP24A1 (25) and SLC34A3 (3), mostly associated with renal disease (lithiasis, nephrocalcinosis) (86%). Hypophosphatemia was found in 7 patients with biallelic mutations in CYP24A1 and a normal phosphatemia was reported in 2 patients with biallelic mutations in SLC34A3 . Rare variations in SLC34A1 and SLC34A3 were mostly of uncertain significance. Fifteen patients (8%) carried only one heterozygous mutation. Heterozygous relatives carrying SLC34A1 or SLC34A3 variation may present with biochemical changes in mineral metabolism. Two patients’ genotype may suggest digenism (heterozygous variations in different genes). No variation was found in SLC9A3R1. As no specific pattern can be found, patients with medical history suggestive of CYP24A1 mutation should benefit from SLC34A1 and SLC34A3 analysis.

Type of Medium: Online Resource

ISSN: 1664-2392

URL: Article

DOI: 10.3389/fendo.2021.736240

DOI: 10.3389/fendo.2021.736240.s001

Language: Unknown

Publisher: Frontiers Media SA

Publication Date: 2021

detail.hit.zdb_id: 2592084-4

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Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

Cospain, Auriane ; Dubourg, Christèle ; Gastineau, Swellen ; [et al.]

Elsevier BV ; 2020

In: Molecular Genetics and Metabolism Reports Vol. 24 ( 2020-09), p. 100621-

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In: Molecular Genetics and Metabolism Reports, Elsevier BV, Vol. 24 ( 2020-09), p. 100621-

Type of Medium: Online Resource

ISSN: 2214-4269

URL: Article

DOI: 10.1016/j.ymgmr.2020.100621

Language: English

Publisher: Elsevier BV

Publication Date: 2020

detail.hit.zdb_id: 2821908-9

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