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Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature

American journal of medical genetics. Part A, 2009-06, Vol.149A (6), p.1241-1248

2009

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009-06, Vol.18 (12), p.2149-2165

2009

Volltextzugriff (PDF)

Point of view: Marfan syndrome: be aware of life-threatening complications

Medicine and health, Rhode Island, 2002-02, Vol.85 (2), p.70

Abuelo, Dianne N

2002

Volltextzugriff (PDF)

Loss-of-function mutations in ATP6VOA2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009, Vol.18 (12), p.2149-2165

2009

Volltextzugriff (PDF)

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

The Journal of pediatrics, 1995-07, Vol.127 (1), p.82-87

1995

Volltextzugriff (PDF)

Attitudes toward genetic testing for cystic fibrosis among college students

Journal of genetic counseling, 1992-09, Vol.1 (3), p.219-226

1992

Volltextzugriff (PDF)

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

Human genetics, 2001-02, Vol.108 (2), p.109-115

2001

Volltextzugriff (PDF)

Ataxia telangiectasia and acinic cell carcinoma of the parotid gland

Journal of surgical oncology, 1988-10, Vol.39 (2), p.133-138

1988

Volltextzugriff (PDF)

Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting

American journal of medical genetics, 2000-10, Vol.94 (5), p.392-399

2000

Volltextzugriff (PDF)

Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities

American journal of medical genetics, 1997-05, Vol.70 (1), p.67-73

1997

Volltextzugriff (PDF)

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

Human genetics, 1996-12, Vol.98 (6), p.710-718

1996

Volltextzugriff (PDF)

Incidence of Down's syndrome in Rhode Island

JAMA : the journal of the American Medical Association, 1982-08, Vol.248 (6), p.645

1982

Volltextzugriff (PDF)

Prenatal diagnosis of homozygous alpha-thalassemia

JAMA : the journal of the American Medical Association, 1979-04, Vol.241 (15), p.1610

1979

Volltextzugriff (PDF)

Genetic disorders in Southeast Asian immigrants

JAMA : the journal of the American Medical Association, 1978-09, Vol.240 (12), p.1240

1978

Volltextzugriff (PDF)

Anxiety in women with low maternal serum alpha-fetoprotein screening results

Prenatal diagnosis, 1991-06, Vol.11 (6), p.381-385

1991

Volltextzugriff (PDF)

Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome

Prenatal diagnosis, 1997-02, Vol.17 (2), p.187-189

1997

Volltextzugriff (PDF)

Limb defects and congenital anomalies of the genitalia in an infant with homozygous α-thalassemia

American journal of medical genetics, 1997-01, Vol.68 (2), p.158-161

1997

Volltextzugriff (PDF)

Acute Renal Insufficiency Due to Renal Infarctions in a Patient With Neurofibromatosis

American journal of kidney diseases, 1990-04, Vol.15 (4), p.357-360

1990

Volltextzugriff (PDF)

Prolife Perinatologist

The New England journal of medicine, 1992-09, Vol.327 (11), p.812-814

Rubsamen, D S

1992

Volltextzugriff (PDF)

Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature

American Journal of Medical Genetics Part A, 2009, Vol.149A (6), p.1241-1248

2009

Volltextzugriff (PDF)

Prognosis for couples who have experienced repeated pregnancy loss

Fertility and sterility, 1983-12, Vol.40 (6), p.844-845

1983

Volltextzugriff (PDF)

Neurofibromatosis with fully expressed Noonan syndrome

American journal of medical genetics, 1988-04, Vol.29 (4), p.937-941

1988

Volltextzugriff (PDF)

Cholesterol supplementation in Smith-Lemli-Opitz syndrome

American journal of medical genetics, 1998-07, Vol.78 (4), p.378-378

Abuelo, Dianne N.

1998

Volltextzugriff (PDF)

Case 51-1980: Mode of inheritance of congenital heart disease

The New England journal of medicine, 1981-05, Vol.304 (19), p.1176

Abuelo, D N

1981

Volltextzugriff (PDF)

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

American journal of medical genetics, 1999-07, Vol.85 (2), p.160-170

1999

Volltextzugriff (PDF)

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Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Point of view: Marfan syndrome: be aware of life-threatening complications

Loss-of-function mutations in ATP6VOA2 impair vesicular trafficking, tropoelastin secretion and cell survival

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

Attitudes toward genetic testing for cystic fibrosis among college students

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

Ataxia telangiectasia and acinic cell carcinoma of the parotid gland

Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting

Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

Incidence of Down's syndrome in Rhode Island

Prenatal diagnosis of homozygous alpha-thalassemia

Genetic disorders in Southeast Asian immigrants

Anxiety in women with low maternal serum alpha-fetoprotein screening results

Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome

Limb defects and congenital anomalies of the genitalia in an infant with homozygous α-thalassemia

Acute Renal Insufficiency Due to Renal Infarctions in a Patient With Neurofibromatosis

Prolife Perinatologist

Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature

Prognosis for couples who have experienced repeated pregnancy loss

Neurofibromatosis with fully expressed Noonan syndrome

Cholesterol supplementation in Smith-Lemli-Opitz syndrome

Case 51-1980: Mode of inheritance of congenital heart disease

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

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