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The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

Journal of medical genetics, 2000-12, Vol.37 (12), p.916-920

2000

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Down syndrome and coeliac disease: usefulness of antigliadin and antiendomysium antibodies

Acta Paediatrica, 1996-12, Vol.85 (12), p.1503-1505

1996

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Two new human hemoglobin variants caused by unusual mutational events : Hb Zaïre contains a five residue repetition within the α-chain and Hb Duino has two residues substituted in the β-chain

Human genetics, 1992-08, Vol.89 (6), p.676-680

1992

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Assessment of growth hormone insulin like growth factor-I axis in Down's syndrome

Journal of endocrinological investigation, 1994-06, Vol.17 (6), p.431-436

1994

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Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle

Human genetics, 1997-03, Vol.99 (3), p.387-392

1997

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Varicella in Immunocompetent Children in the First Two Years of Life: Role of Treatment with Oral Acyclovir

Journal of chemotherapy, 1995-01, Vol.7 (1), p.62-66

1995

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Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna

Human molecular genetics, 2000-05, Vol.9 (8), p.1251-1255

2000

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Expression of the human ETS-2 oncogene in normal fetal tissues and in the brain of a fetus with trisomy 21

Human genetics, 1989-10, Vol.83 (3), p.295-296

1989

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Incidence of bronchial asthma in Down syndrome

The Journal of pediatrics, 1990-03, Vol.116 (3), p.487-487

1990

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Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein

Human genetics, 1998-03, Vol.102 (3), p.289-293

1998

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Coexistence of Haemophilia A and Von Willebrand's Disease in the Same Kindred

Scandinavian Journal of Haematology, 1978-05, Vol.20 (5), p.423-428

1978

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Identification and Characterization of a New Human Gene Encoding a Small Protein with High Homology to the Proline-Rich Region of the SH3BGR Gene

Biochemical and biophysical research communications, 1998-06, Vol.247 (2), p.302-306

1998

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Delineation of Syndromes Due to Partial 6q Imbalances. Trisomy 6q21→qter and Monosomy 6q221→qter in Two Unrelated Patients

Acta geneticae medicae et gemellologiae, 1978-01, Vol.27, p.57-66

1978

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Acute promyelocytic leukemia in children. An ultrastructural study

Pathologica, 1976-11, Vol.68 (985-986), p.539

Rasore-Quartino, A

1976

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Role of low-dose radiotherapy in the multimodal treatment of Kasabach-Merritt syndrome

Radiologia medica, 1995-07, Vol.90 (1-2), p.162-166

1995

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Potential Benefit of Acyclovir for Chickenpox Acquired from Household Contacts

Journal of chemotherapy (Florence), 1997, Vol.9 (3), p.199-202

1997

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Two new human hemoglobin variants caused by unusual mutational events: Hb Zaiere contains a five residue repetition within the alpha -chain and Hb Duino has two residues substituted in the beta -chain

Human genetics, 1992-01, Vol.89 (6), p.676-680

1992

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Syndromes from birth to adulthood

La Pediatria medica e chirurgica, 1993-05, Vol.15 Suppl 1, p.57

Rasore-Quartino, A

1993

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Type A2 brachydactily: report of a new family

Acta geneticae medicae et gemellologiae, 1977, Vol.26 (2), p.141

1977

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Pharmacokinetics of cytochrome P-450

Pathologica, 1993-05, Vol.85 (1097), p.395

1993

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A possible anti-D autosensitization in a D (Rh0) negative patient

Haematologica (Roma), 1983-01, Vol.68 (5), p.656

1983

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Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: description of a patient whose mother showed minimal features of the disease

Pathologica, 1993-03, Vol.85 (1096), p.225

1993

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Dystkeratosis congenita: unusual presenting features within a kindred

Pediatric hematology and oncology, 1993, Vol.10 (2), p.145-149

1993

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Dyskeratosis Congenita: Unusual Presenting Features Within a Kindred

Pediatric hematology and oncology, 1993, Vol.10 (2), p.145-149

1993

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Expression of the human ETS-2 oncogenic in normal fetal tissues and in the brain of a fetus with trisomy 21

Human genetics, 1989, Vol.83 (3), p.295-296

1989

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The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

Down syndrome and coeliac disease: usefulness of antigliadin and antiendomysium antibodies

Two new human hemoglobin variants caused by unusual mutational events : Hb Zaïre contains a five residue repetition within the α-chain and Hb Duino has two residues substituted in the β-chain

Assessment of growth hormone insulin like growth factor-I axis in Down's syndrome

Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle

Varicella in Immunocompetent Children in the First Two Years of Life: Role of Treatment with Oral Acyclovir

Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna

Expression of the human ETS-2 oncogene in normal fetal tissues and in the brain of a fetus with trisomy 21

Incidence of bronchial asthma in Down syndrome

Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein

Coexistence of Haemophilia A and Von Willebrand's Disease in the Same Kindred

Identification and Characterization of a New Human Gene Encoding a Small Protein with High Homology to the Proline-Rich Region of the SH3BGR Gene

Delineation of Syndromes Due to Partial 6q Imbalances. Trisomy 6q21→qter and Monosomy 6q221→qter in Two Unrelated Patients

Acute promyelocytic leukemia in children. An ultrastructural study

Role of low-dose radiotherapy in the multimodal treatment of Kasabach-Merritt syndrome

Potential Benefit of Acyclovir for Chickenpox Acquired from Household Contacts

Two new human hemoglobin variants caused by unusual mutational events: Hb Zaiere contains a five residue repetition within the alpha -chain and Hb Duino has two residues substituted in the beta -chain

Syndromes from birth to adulthood

Type A2 brachydactily: report of a new family

Pharmacokinetics of cytochrome P-450

A possible anti-D autosensitization in a D (Rh0) negative patient

Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: description of a patient whose mother showed minimal features of the disease

Dystkeratosis congenita: unusual presenting features within a kindred

Dyskeratosis Congenita: Unusual Presenting Features Within a Kindred

Expression of the human ETS-2 oncogenic in normal fetal tissues and in the brain of a fetus with trisomy 21

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