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Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Genetics in medicine, 2017-08, Vol.19 (8), p.900-908

2017

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Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review

Brain & development (Tokyo. 1979), 2020-01, Vol.42 (1), p.77-82

2020

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SATB2-Associated Syndrome: a Case Report of a De Novo Nonsense Mutation in SATB2 from China and Review of Literature

Clinical laboratory (Heidelberg), 2018-01, Vol.64 (4/2018)

2018

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Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force

Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.69-69, Article 69

2017

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Neurological aspects of the Angelman syndrome

Brain & development (Tokyo. 1979), 2005-03, Vol.27 (2), p.88-94

Williams, Charles A.

2005

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In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Cold Spring Harbor molecular case studies, 2018-10, Vol.4 (5), p.a003160

2018

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Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2008-09, Vol.147B (6), p.799-806

2008

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Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature

Cold Spring Harbor molecular case studies, 2018-10, Vol.4 (5), p.a003301

2018

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SPG20 mutation in three siblings with familial hereditary spastic paraplegia

Cold Spring Harbor molecular case studies, 2017-07, Vol.3 (4), p.a001537

2017

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Clinical features and management issues in Mowat-Wilson syndrome

American journal of medical genetics. Part A, 2006-12, Vol.140A (24), p.2730-2741

2006

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Síndrome de Phelan McDermid: descripción de cinco pacientes e informe del primer caso descripto en gemelas siamesas

Archivos argentinos de pediatría, 2012-06, Vol.110 (3), p.e50-e54

2012

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Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1726-1732

2013

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KBG syndrome involving a single-nucleotide duplication in ANKRD11

Cold Spring Harbor molecular case studies, 2016-11, Vol.2 (6), p.a001131-a001131

2016

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SCN8A mutation in a child presenting with seizures and developmental delays

Cold Spring Harbor molecular case studies, 2016-11, Vol.2 (6), p.a001073-a001073

2016

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Mental retardation, growth retardation, unusual nose, and open mouth: An autosomal recessive entity

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2160-2163

Alkuraya, Fowzan S.

2010

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22q13 deletion syndrome

American journal of medical genetics, 2001-06, Vol.101 (2), p.91-99

2001

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Angelman syndrome revisited

The Neurologist (Baltimore, Md.), 2007-09, Vol.13 (5), p.305-312

2007

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8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism

Genetic counseling, 2011-01, Vol.22 (4), p.353

2011

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Two 22q telomere deletions serendipitously detected by FISH

Journal of medical genetics, 1998-11, Vol.35 (11), p.939-942

1998

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Angelman’s Syndrome: Pathological Study

Pediatric neurology briefs, 1991-05, Vol.5 (5), p.33

Millichap, J Gordon

1991

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Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

Ear and hearing, 2020-07, Vol.41 (4), p.983-989

2020

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Missing persons: Young children's talk about absent members of their social network

Mind & language, 2022-11, Vol.37 (5), p.933-954

2022

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Pseudo-pheochromocytoma due to obstructive sleep apnea: a case report

Endocrinology, diabetes & metabolism case reports, 2022-02, Vol.2022 (1), p.1-4

2022

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Talking about people who are not there: Children’s early references to absent caregivers and absent friends

First language, 2022-06, Vol.42 (3), p.405-425

2022

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Familial Absent Uvula With Velopharyngeal Incompetence—A New Syndrome?

The Cleft palate-craniofacial journal, 2020-04, Vol.57 (4), p.514-519

2020

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Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review

SATB2-Associated Syndrome: a Case Report of a De Novo Nonsense Mutation in SATB2 from China and Review of Literature

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force

Neurological aspects of the Angelman syndrome

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections

Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature

SPG20 mutation in three siblings with familial hereditary spastic paraplegia

Clinical features and management issues in Mowat-Wilson syndrome

Síndrome de Phelan McDermid: descripción de cinco pacientes e informe del primer caso descripto en gemelas siamesas

Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions

KBG syndrome involving a single-nucleotide duplication in ANKRD11

SCN8A mutation in a child presenting with seizures and developmental delays

Mental retardation, growth retardation, unusual nose, and open mouth: An autosomal recessive entity

22q13 deletion syndrome

Angelman syndrome revisited

8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism

Two 22q telomere deletions serendipitously detected by FISH

Angelman’s Syndrome: Pathological Study

Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve Malformations

Missing persons: Young children's talk about absent members of their social network

Pseudo-pheochromocytoma due to obstructive sleep apnea: a case report

Talking about people who are not there: Children’s early references to absent caregivers and absent friends

Familial Absent Uvula With Velopharyngeal Incompetence—A New Syndrome?

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