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List of works by Baraitser M

A Noonan-like short stature syndrome with sparse hair.

scientific article

A case of Marshall-Smith or Weaver syndrome

scientific article

A case of atelosteogenesis

scientific article

A case with blepharophimosis resembling Ohdo syndrome.

scientific article published in April 1994

A clinical follow-up of British patients with FG syndrome.

scientific article published in April 1994

A computerised data base for the diagnosis of rare dysmorphic syndromes ⬇️

scientific article published on April 1, 1984

A database of genetically determined neurological conditions for clinicians

scientific article published on January 1989

A distinctive overgrowth syndrome with polysyndactyly

scientific article published on 01 October 1996

A distinctive type of hypohidrotic ectodermal dysplasia featuring hypothyroidism

scientific article published on 01 January 1986

A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures

scientific article

A family with congenital suprabulbar paresis (Worster-Drought syndrome)

A family with congenital suprabulbar paresis (Worster-Drought syndrome).

scientific article

A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?

scientific article

A gene for FG syndrome maps in the Xq12-q21.31 region

scientific article published in November 1997

A new X-linked mental retardation syndrome

scientific article published on 01 January 1987

A new alopecia/mental retardation syndrome

scientific article published on February 1983

A new camptodactyly syndrome

scientific article

A new craniosynostosis/mental retardation syndrome diagnosed by fetoscopy.

scientific article published in July 1982

A new form of familial ataxia, deafness, and mental retardation

scientific article published on August 1993

A reappraisal of the CHARGE association ⬇️

scientific article published on March 1, 1988

A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome.

scientific article

A recognisable short stature syndrome with premature aging and pigmented naevi ⬇️

scientific article published on January 1, 1988

A single maxillary incisor as a manifestation of an ectodermal dysplasia

scientific article

A syndrome of brachyphalangy, polydactyly and absent tibiae

scientific article published on 01 April 1997

A syndrome of mental retardation, short stature, hemolytic anemia, delayed puberty, and abnormal facial appearance: similarities to a report of aldolase A deficiency

scientific article published in December 1987

A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection

scientific article published on August 1986

Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale

scientific article published on 01 January 1984

Alexander's disease: clues to diagnosis.

scientific article

Alopecia, mental retardation, epilepsy and microcephaly in two cousins

scientific article published on April 1992

An apparently new syndrome of bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay.

scientific article published in July 1993

An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts

scientific article published in May 1986

An avoidable recurrence of cri du chat syndrome in the next generation.

scientific article

An extended family with a dominantly inherited speech disorder

scientific article (publication date: April 1990)

An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings

scientific article published on February 1987

An unusual syndrome with mental retardation and sparse hair

scientific article

Angelman's syndrome

scientific article

Annual Review of Genetics

scientific article published in December 1987 in Postgraduate Medical Journal

Annual Review of Genetics

scientific article published October 1989 in Postgraduate Medical Journal

Ataxia, developmental delay and an extensive neuronal migration abnormality in 2 siblings.

scientific article

Atlas des Maladies Chromosomiques.

scientific article published in February 1978

Atlas des Maladies Chromosomiques.

scientific article published in December 1982

Atypical facio-scapulo-humeral muscular dystrophy--a counselling dilemma

scientific article published in March 1991

Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia).

scientific article

Autosomal dominant late onset cerebellar ataxia with myoclonus, peripheral neuropathy and sensorineural deafness: a clinicopathological report

scientific article

Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities

scientific article published in September 1991

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease

scientific article

Autosomal recessive microcephaly with severe psychomotor retardation

scientific article published on February 1992

Autosomal recessive microcephaly, mental retardation with nonpigmentary retinopathy and a distinctive electroretinogram

scientific article published on August 1989

Axonal velocities of motor units in the hand and foot muscles of the baboon

scientific article published on 01 October 1976

Balanced t(6;8)(6p8p;6q8q) and the CHARGE association

scientific article

Biochemical and clinical studies of Friedreich's ataxia

scientific article

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

scientific article

Central nervous system malformations in Mohr's syndrome

scientific article

Cerebellar ataxia and ectodermal dysplasia in brothers

scientific article published on June 1993

Cerebral arteriovenous malformation in Noonan's syndrome

scientific article published on January 1992

Children who look different

scientific article published on 01 April 1988

Chromosomal Variation in Man. A Catalog of Chromosomal Variants and Anomalies.

scientific article published in October 1976

Chromosomes and mental retardation

scientific article published in August 1986

Coffin-Siris syndrome

scientific article

Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?

scientific article published on 01 April 1993

Congenital cutis laxa with retardation of growth and development

scientific article

Congenital spinal deformity in a three generation family

scientific article

Congenital trichomegaly, pigmentary retinal degeneration, and short stature

scientific article published on 01 April 1986

Congenital varicella infection

scientific article published in December 1991

Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome

scientific article published on April 1, 1995

Craniofrontonasal dysplasia in two male sibs

scientific article published in October 1993

Craniofrontonasal dysplasia.

scientific article

Cutis laxa and the Costello syndrome

scientific article

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients

scientific article published in January 1987

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies

scientific article

Dentistry in the Interdisciplinary Treatment of Genetic Diseases.

scientific article published in April 1982

Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome

scientific article

Dilemmas in counselling: the EEC syndrome

scientific article

Distal spinal muscular atrophy with vocal cord paralysis ⬇️

scientific article published on March 1, 1992

Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears

scientific article published on January 1988

Dominantly inherited congenital cerebellar ataxia with atrophy of the vermis

scientific article

Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype

scientific article published in September 1991

Down's Anomaly 2nd ed.

scientific article

Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies

scientific article

Early onset leukodystrophy with distinct facial features in 2 siblings.

scientific article

Effect of genetic counselling on the prevalence of Huntington's chorea ⬇️

scientific article published on January 22, 1983

Effect of genetic counselling on the prevalence of Huntington's chorea.

scientific article

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

scientific article

FG syndrome

scientific article

Femoral hypoplasia unusual facies syndrome with preaxial polydactyly.

scientific article

Focal dermal hypoplasia (Goltz syndrome).

scientific article

Frontofacionasal dysplasia: a new case and review of the phenotype.

scientific article

Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly?

article

Genes and the Mind. Inheritance of Mental Illness.

scientific article published in June 1981

Genetic Aspects of Speech and Language Disorders

scientific article published in August 1985

Genetic Basis of the Epilepsies.

scientific article published in November 1982

Genetic Forms of Hypogonadism

scientific article published in August 1976

Genetic and clinical heterogeneity of Stickler syndrome ⬇️

scientific article published on 01 October 1991

Genetic aspects of speech disorders

scientific article published on 01 August 1987

Genetic prediction in Huntington's disease: what are the limitations imposed by pedigree structure?

scientific article published in January 1988

Genetic study of narcoleptic syndrome ⬇️

scientific article published on August 1, 1978

Genetics of Mobius syndrome ⬇️

scientific article published on December 1, 1977

Genetics of Neuropsychiatric Diseases

scientific article

Greig cephalopolysyndactyly: report of 13 affected individuals in three families

scientific article published in October 1983

Hemihypertrophy, hemimegalencephaly, and polydactyly

scientific article published in December 1996

Hereditary neurocutaneous angiomatous malformations: autosomal dominant inheritance in two families

scientific article published in January 1988

Heterogeneity in dominant anterior segment malformations

scientific article

Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review.

scientific article

Huntington's chorea arising as a fresh mutation

scientific article

Hypohidrotic ectodermal dysplasia with hypothyroidism.

scientific article published in May 1990

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

scientific article

Intrafamilial correlation in Friedreich's ataxia ⬇️

scientific article published on December 1, 1981

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome ⬇️

scientific article published on January 1, 1988

Johanson-Blizzard syndrome.

scientific article published in January 1989

Joubert syndrome: a review

scientific article published on July 1, 1992

Joubert-Boltshauser syndrome with polydactyly in siblings

scientific article

Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder?

scientific article published in October 1993

Lenz microphthalmia--a case report

scientific article published on 01 August 1982

Lethal congenital erythroderma: a newly recognised genetic disorder

scientific article published on May 1, 1992

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome

scientific article published on 01 January 1995

Malformation syndromes--a diagnostic approach

scientific article published in April 1984

Marshall/Stickler syndrome

scientific article

Median clefting of the upper lip associated with cutaneous polyps

scientific article published on May 1990

Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings

scientific article published in August 1990

Megalocornea, developmental retardation and dysmorphic features: two further patients.

scientific article published in April 1994

Mental retardation, microcephaly and blepharochalasis in brothers

scientific article published on April 1994

Mesomelic limb shortness: a previously unreported autosomal recessive type

scientific article published on 01 October 1993

Microcephaly and intracranial calcification in two brothers.

scientific article published on June 1983

Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome

scientific article

Midline facial defects with ocular colobomata ⬇️

scientific article published on September 1, 1990

Mild de Lange syndrome--does it exist?

scientific article published on April 1993

Moebius syndrome, an axonal neuropathy and hypogonadism

scientific article published on 01 October 1996

Moebius' syndrome with unilateral cerebellar hypoplasia

scientific article published on September 1989

Mohr syndrome variant or Joubert-Boltshauser syndrome?

scientific article

Moore-Federman syndrome and acromicric dysplasia: are they the same entity?

scientific article

Multiple pterygium syndrome: evolution of the phenotype

scientific article

Nance-Sweeney chondrodysplasia--a further case?

scientific article published on 01 July 1996

Neurological complications in one of a sibpair with aplasia cutis congenita

scientific article published on October 1, 1992

Neurology of Hereditary Metabolic Disorders of Children

scientific article published in February 1997

New Chromosomal and Malformation Syndromes.

scientific article published in October 1976

New case of the Carey-Fineman-Ziter syndrome

scientific article published on 01 November 1994

Nonspecific X‐linked mental retardation with macrocephaly and obesity: A further family ⬇️

scientific article published on 01 July 1995

Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis

scientific article

Nosology of Smith-Lemli-Opitz syndrome

scientific article published on 01 November 1987

Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'.

scientific article

Okihiro syndrome: thenar hypoplasia and Duane anomaly in three generations

scientific article published on 01 July 1993

Organic acidurias and amino acidurias in the aetiology of long-term mental handicap.

scientific article published in December 1980

Orofaciodigital syndrome with mesomelic limb shortening.

scientific article

PEHO or PEHO-like syndrome?

scientific article published in April 1996

Parietal foramina in Saethre-Chotzen syndrome.

scientific article

Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome).

scientific article

Partial lipodystrophy syndromes--a further male case

scientific article published on 01 November 1990

Partial trisomy 3q causing mild Cornelia de Lange phenotype

scientific article

Pelizaeus-Merzbacher disease: classical or connatal?

scientific article

Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis

scientific article

Peripheral and central somatosensory nerve conduction defects in Friedreich's ataxia

scientific article published on June 1980

Perlman and Wiedemann-Beckwith syndromes: two distinct conditions associated with Wilms' tumour

scientific article published in December 1992

Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

scientific article

Pitfalls in counselling: the craniosynostoses

scientific article

Pitfalls of genetic counselling in Pfeiffer's syndrome

scientific article

Prenatal treatment of fetal hydrops associated with the hypertelorism-dysphagia syndrome (Opitz-G syndrome).

scientific article published in March 1986

Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases ⬇️

scientific article published on December 1, 1991

Primidone teratogenicity or noonan syndrome?

scientific article published on 01 May 1982

Proteus syndrome: an expanded phenotype

scientific article published on 01 May 1987

Proteus syndrome: report of a case with severe brain impairment and fatal course

scientific article published on June 1990

Purkiss et al reply.

scientific article

Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs

scientific article published on January 1, 1992

Rapadilino syndrome ??? a non-Finnish case ⬇️

scientific article published on April 1, 1998

Recently recognized chromosomal defects of clinical importance

scientific article published on February 1986

Recessively inherited brachydactyly type C.

scientific article

Reduced penetrance in tuberous sclerosis

scientific article

Relevance of a family history of seizures

scientific article

Selective IgG2 subclass deficiency--a marker for the syndrome of pre/postnatal growth retardation, developmental delay, hypotrophy of distal extremities, dental anomalies and eczema

scientific article published in April 1997

Severe Silver-Russell syndrome

scientific article

Severe mental retardation and absent nails of Hallux and Pollex ⬇️

scientific article published on November 1, 1991

Severe microcephaly associated with congenital varicella infection

scientific article published on October 1991

Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?

scientific article published on January 2000

Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case.

scientific article published in September 1980

Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?

scientific article

Sorsby syndrome: a report on further generations of the original family

scientific article

Tel Hashomer camptodactyly syndrome: report of a case with myopathic features

scientific article

The 'happy puppet' syndrome of Angelman: review of the clinical features

scientific article published on January 1989

The 3-M syndrome.

scientific article

The Angelman (Happy Puppet) syndrome: is it autosomal recessive?

scientific article published in May 1987

The Eye in Chromosome Duplications and Deficiencies.

scientific article published in August 1978

The FG syndrome: 7 new cases

scientific article

The Holt-Oram syndrome

scientific article

The Johanson-Blizzard syndrome

scientific article

The London Dysmorphology Database

scientific article published on August 1987

The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot

scientific article published on October 1985

The Rubinstein-Taybi syndrome: occurrence in two sets of identical twins

scientific article published on 01 April 1983

The Walker-Warburg or a new syndrome?

scientific article published on 01 January 1996

The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity

scientific article published in October 1983

The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.

scientific article published in July 1997

The clinical features of the Cohen syndrome: further case reports

scientific article

The clinical spectrum of the Fraser syndrome: report of three new cases and review

scientific article

The effect of undernutrition on brain-rhythm development.

scientific article published in January 1969

The femoral hypoplasia-unusual facies syndrome.

scientific article

The genetics of the spinal muscular atrophies

scientific article

The hypertelorism microtia clefting syndrome.

scientific article published on October 1982

The incidence and nature of visual pathway involvement in Friedreich's ataxia. A clinical and visual evoked potential study of 22 patients

scientific article published on 01 June 1980

The iris in Williams syndrome

scientific article published on September 1990

The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)

scientific article

The orofaciodigital (OFD) syndromes

scientific article

The use of a computerised database for the diagnosis of a rare neurological syndrome

scientific article published on November 1987

Three mildly retarded siblings with congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature: a new syndrome?

scientific article published in October 1995

Three patients with the osteochondrodysplasia and hypertrichosis syndrome - Cantu syndrome ⬇️

scientific article published on April 1, 1998

Total situs inversus associated with the oculo-auriculo-vertebral spectrum

scientific article published on 01 January 1994

Trigonocephaly and the Opitz C syndrome

scientific article

Two brothers with deafness, femoral epiphyseal dysplasia, short stature and developmental delay.

scientific article published in January 1996

Two brothers with heart defects and limb shortening: case reports and review

scientific article published on December 1990

Two siblings with mental retardation and progressive spasticity

scientific article published on 01 June 1993

Unusual presentation of fragile X syndrome

scientific article published on 01 November 1990

Update on the London Dysmorphology Database

scientific article published on 01 July 1991

X linked mental retardation: a family with a separate syndrome?

scientific article

X-linked recessive bulbospinal neuronopathy: a report of ten cases

scientific article

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