(Q39735601)

14 September 2017

1 reference

title

The syndromology of anorectal malformation (atresia, stenosis, ectopia) (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

4 April 2023

1 reference

Pinsky L

1

1 reference

14 September 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=352149

4 April 2023

publication date

1 January 1978

1 reference

full work available at URL

14 September 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320010408

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320010408

4 April 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

American Journal of Medical Genetics Part A

4 April 2023

published in

1 reference

14 September 2017

volume

1

1 reference

14 September 2017

issue

4

1 reference

14 September 2017

page(s)

461-474

1 reference

A Syndrome of Multiple Congenital Anomalies Associated With Teratogenic Exposure

14 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320010408

Occurrence and Properties of Fetal Intestinal Glycosidases (Disaccharidases) in Human Amniotic Fluid

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.1320010408

A COMPLEX OF ANOMALIES ASSOCIATED WITH TRACHEOESOPHAGEAL FISTULA AND ESOPHAGEAL ATRESIA

21 January 2018

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects

4 April 2023

5

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Extending the scope of the VATER association: definition of the VATER syndrome

4 April 2023

6

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

The Vater association: malformations of the male external genitalia

4 April 2023

8

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies

4 April 2023

10

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Familial anal abnormality

4 April 2023

11

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Imperforate anus/polydactyly/vertebral anomalies syndrome: A hereditary trait?

4 April 2023

13

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

A new polydactyly/imperforate-anus/vertebral-anomalies syndrome

4 April 2023

14

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

The FG syndrome: Further characterization, report of a third family, and of a sporadic case

4 April 2023

15

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

X-linked skeletal dysplasia with mental retardation

4 April 2023

16

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Familial occurrence of the G syndrome

4 April 2023

19

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

The G syndrome. A four-generation family study

4 April 2023

20

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

The pathologic anatomy of the G syndrome

4 April 2023

24

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Anterior sacral meningocele, anal canal duplication cyst and covered anus occurring in one family

4 April 2023

25

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Hereditary defect of the sacrum and coccyx with anterior sacral meningocele

4 April 2023

27

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Zeitschrift fur Kinderchirurgie : organ der Deutschen, der Schweizerischen und der Osterreichischen Gesellschaft fur Kinderchirurgie = Surgery in infancy and childhood

4 April 2023

29

17

389

Puri

1975

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.

4 April 2023

31

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Hydrometrocolpos in infancy

4 April 2023

35

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

The renal lesion of the Laurence-Moon-Biedl syndrome

4 April 2023

40

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Malformative Syndrome with Cryptophthalmos

4 April 2023

44

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Helvetica paediatrica acta

4 April 2023

45

24

239

Huguenin

1969

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism

4 April 2023

46

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Persistent cloaca with no urethral, genital, or anal openings.

4 April 2023

48

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption

4 April 2023

51

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Exocrine pancreatic insufficiency with congenital anomalies

4 April 2023

52

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Proteolytic and lipolytic deficiency of the exocrine pancreas

4 April 2023

54

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Further studies of patients with the cardiofacial syndrome

4 April 2023

56

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Asymmetric crying facies: an index of other congenital anomalies

4 April 2023

57

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Frequency of other malformations in congenital hypoplasia of depressor anguli oris muscle syndrome

4 April 2023

58

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Congenital hypoplasia of depressor anguli oris muscle. A genetically determined condition?

4 April 2023

60

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA

4 April 2023

63

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

"Cat eye" syndrome with normal chromosomes

4 April 2023

65

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case

4 April 2023

67

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Confirmation of trisomy 22 by trypsin-giemsa staining

4 April 2023

68

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Quinacrine fluorescence and Giemsa banding in trisomy 22

4 April 2023

70

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

The 13q- deletion syndrome

4 April 2023

71

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

E (16-18) trisomy syndrome: analysis of 13 cases

4 April 2023

72

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

TRISOMY 18 SYNDROME WITH ABSENT RADIUS, VARUS DEFORMITY OF HAND, AND RUDIMENTARY THUMB: REPORT OF A CASE

4 April 2023

74

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

A community of human malformation syndromes involving the müllerian ducts, distal extremities, urinary tract, and ears

4 April 2023

76

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Esophageal atresia associated with an anorectal anomaly and probably laryngeal fissure in three siblings

4 April 2023

82

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

A new syndrome of dysmorphogenesis: imperforate-anus associated with poly-oligodactyly and skeletal (mainly vertebral) anomalies

4 April 2023

86

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

The “fetoscope”—A new clinical tool for prenatal genetic diagnosis

4 April 2023

87

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

Antenatal diagnosis of duodenal atresia

4 April 2023

88

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

The diagnosis of fetal hydronephrosis, megaureter and urethral obstruction by ultrasonic echography

4 April 2023

90

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320010408

4 April 2023

Identifiers

1 reference

14 September 2017

1 reference