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Large duplication in MTM1 associated with myotubular myopathy

Neuromuscular disorders : NMD, 2013-03, Vol.23 (3), p.214-218

2013

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Detection of deletions in de novo “balanced” chromosome rearrangements: Further evidence for their role in phenotypic abnormalities

Genetics in medicine, 2004-03, Vol.6 (2), p.81-89

2004

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X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

American journal of medical genetics, 2003-01, Vol.116A (3), p.255-260

2003

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Delineation of complex chromosomal rearrangements: evidence for increased complexity

Human genetics, 2004-04, Vol.114 (5), p.448-457

2004

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Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

American journal of medical genetics, 2003-07, Vol.120A (1), p.28-33

2003

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Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

Human genetics, 2001-09, Vol.109 (3), p.311-318

2001

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Single maxillary central incisor in a girl with del(18p) syndrome

Journal of medical genetics, 1991-08, Vol.28 (8), p.530-532

1991

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Commentary on ?Muir-Torre syndrome? by Tuncel et al

European journal of plastic surgery, 2004-10, Vol.27 (5), p.244-245

Aughton, D.

2004

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Sonographic detection of hydrolethalus syndrome

Journal of clinical ultrasound, 1994-05, Vol.22 (4), p.286

Aughton, D

1994

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Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant

Journal of medical genetics, 1990-12, Vol.27 (12), p.788-790

1990

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Down syndrome and omphalocele: an underrecognized association

Pediatrics (Evanston), 1994-03, Vol.93 (3), p.514

1994

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Müllerian duct abnormalities and galactosaemia heterozygosity: report of a family

Clinical dysmorphology, 1993-01, Vol.2 (1), p.55-61

Aughton, D J

1993

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Transient elevation of sweat chloride concentration in a malnourished girl with the Mauriac syndrome

The Journal of pediatrics, 1995-02, Vol.126 (2), p.261-263

1995

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Familial medial telangiectatic nevus : variant of nevus flammeus-port-wine stain

Plastic and reconstructive surgery (1963), 1993-05, Vol.91 (6), p.1032-1041

1993

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Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia

Obstetrics and gynecology (New York. 1953), 2003-10, Vol.102 (4), p.801-805

2003

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Isolated bicuspid aortic valve in a newborn with Down syndrome

Clinical pediatrics, 1995-11, Vol.34 (11), p.622-622

1995

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Isolated Bicuspid Aortic Valve in a Newborn With Down Syndrome

Clinical pediatrics, 1995-02, Vol.34 (2), p.116-117, Article 116

1995

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Cholelithiasis in Infants with Down Syndrome: Three Cases and Literature Review

Clinical pediatrics, 1992-11, Vol.31 (11), p.650-652

1992

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Dizygotic twins concordant for truncus arteriosus

Clinical genetics, 1991-01, Vol.39 (1), p.75-79

1991

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Marked female predilection in some syndromes associated with facial hemangiomas

American journal of medical genetics, 1994-08, Vol.52 (2), p.130-135

1994

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Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents

American journal of medical genetics, 1990-10, Vol.37 (2), p.178-181

Aughton, David J.

1990

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Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review

Clinical genetics, 1988-04, Vol.33 (4), p.299-307

1988

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The clinical outcome of fetuses with the prenatal sonographic diagnosis of isolated micrognathia

Ultrasound in medicine & biology, 2003-05, Vol.29 (5), p.S63-S63

2003

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Familial posterior helical ear pits

American journal of medical genetics, 1992-06, Vol.43 (3), p.639-639

1992

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Dir dup(X) (q13→qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies

American journal of medical genetics, 1993-04, Vol.46 (2), p.159-164

1993

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Large duplication in MTM1 associated with myotubular myopathy

Detection of deletions in de novo “balanced” chromosome rearrangements: Further evidence for their role in phenotypic abnormalities

X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

Delineation of complex chromosomal rearrangements: evidence for increased complexity

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

Single maxillary central incisor in a girl with del(18p) syndrome

Commentary on ?Muir-Torre syndrome? by Tuncel et al

Sonographic detection of hydrolethalus syndrome

Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant

Down syndrome and omphalocele: an underrecognized association

Müllerian duct abnormalities and galactosaemia heterozygosity: report of a family

Transient elevation of sweat chloride concentration in a malnourished girl with the Mauriac syndrome

Familial medial telangiectatic nevus : variant of nevus flammeus-port-wine stain

Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia

Isolated bicuspid aortic valve in a newborn with Down syndrome

Isolated Bicuspid Aortic Valve in a Newborn With Down Syndrome

Cholelithiasis in Infants with Down Syndrome: Three Cases and Literature Review

Dizygotic twins concordant for truncus arteriosus

Marked female predilection in some syndromes associated with facial hemangiomas

Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents

Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review

The clinical outcome of fetuses with the prenatal sonographic diagnosis of isolated micrognathia

Familial posterior helical ear pits

Dir dup(X) (q13→qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies

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